Not currently registered for phenotyping at IMPC

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

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
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Joint hypermobility, Clinodactyly of the 5th finger 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
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Hip dysplasia, Limitation of joint mob... OMIM:619598
Multiple Epiphyseal Dysplasia With Robin Phenotype
Talipes equinovarus, Short humerus, Short femur, Irregular epiphyses, Micrognathia, Intrauterine ... OMIM:601560
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... OMIM:271530
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... ORPHA:75508
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Irregular vertebral endplates, Rhizomelia, Osteopenia, Stippled calcification proxi... OMIM:222765
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... OMIM:256050
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... OMIM:616716
Omodysplasia 2
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... OMIM:164745
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed... OMIM:601438
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... ORPHA:2114
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation of finger, Coxa vara, S... ORPHA:2831
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, 11 pairs of ribs, S... OMIM:108720
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... ORPHA:2141
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Micromelia, Metaphyseal c... OMIM:250460
Parastremmatic Dwarfism
Kyphosis, Genu valgum, Flexion contracture, Short neck, Scoliosis OMIM:168400
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Diastrophic Dysplasia
Costal cartilage calcification, Irregular epiphyses, Hip contracture, Talipes equinovarus, Short ... OMIM:222600
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Limited elbow extension, Abnormality of pelvic... OMIM:146000
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Short finger, Tapered finger OMIM:302000
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Talipes equinovarus, Hypoplastic scapulae, Rhizomelia, Scapulohumeral synostosis, D... OMIM:602471
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Abnormal vertebral morph... OMIM:142900
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Short lon... OMIM:611702
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Wide anterior ... OMIM:601561
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lungs, Abnormal form of the ve... ORPHA:2635
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... ORPHA:93314
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... OMIM:252320
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Aplasia/Hypo... ORPHA:1263
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... OMIM:177170
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Hypochondroplasia
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Odontochondrodysplasia 1
Genu varum, Death in infancy, Recurrent respiratory infections, Short phalanx of finger, Short lo... OMIM:184260
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Pulmonary hypoplasia, Abnormal lung lobation, Abnormality of epip... ORPHA:2631
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Short ri... OMIM:602557
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Achondroplasia
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Trident ... ORPHA:15
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... OMIM:608728
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormality of epiphysis mor... ORPHA:93351
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe OMIM:618453
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Limb undergrowth, Rhizomelia, Abnormal... ORPHA:177
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Reduced arm span, Genu varum, Arthralgia of the hip, Fragmentation of the metacarpal epiphyses, A... ORPHA:166002
Greenberg Dysplasia
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... ORPHA:1426
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Short long bone, Avascular nec... ORPHA:93308
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... OMIM:609616
Diastrophic Dysplasia
Symphalangism affecting the phalanges of the hand, Abnormal form of the vertebral bodies, Proxima... ORPHA:628
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Metaphyseal widening, Limb undergrowth, Bea... OMIM:618961
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Small epiphyses, Microretrognathia, Hip contracture, Coronal cleft vertebrae, Irreg... OMIM:618363
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sanda... OMIM:607143
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like vertebral bodi... OMIM:151210
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Rhizomelia, Short ri... OMIM:610319
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Pla... OMIM:211350
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... OMIM:601376
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... ORPHA:1803
Rhizomelic Syndrome, Urbach Type
Micrognathia, Triphalangeal thumb, Abnormality of the elbow, Abnormality of epiphysis morphology,... ORPHA:3098
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... OMIM:618728
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Limb undergrowth, Abnormality of limb bone morphology, Abnormal ... ORPHA:2204
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Prolonge... OMIM:210710
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Short ribs, Stillbirth, Advanced ossification of carpal... OMIM:215045
Ollier Disease
Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Joint st... ORPHA:296
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Dysspondyloenchondromatosis
Kyphoscoliosis, Generalized joint laxity, Abnormality of ulnar metaphysis, Platyspondyly, Genu va... ORPHA:85198
Autosomal Dominant Omodysplasia
Micrognathia, Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Elbow dislocation ORPHA:93328
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... ORPHA:93352
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Kyphoscoliosis, Massively thickened long bone cortices, Micromelia, Brachydactyly OMIM:122900
Cono-Spondylar Dysplasia
Short lower limbs, Short 4th toe, Epiphyseal dysplasia, Kyphosis, Short humerus, Short neck, Scol... ORPHA:420794
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Pulmonary hypoplasia, Short ribs, Absent verteb... ORPHA:93296
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Coxa valga, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffne... OMIM:616583
Rare Circulatory System Disease
Abnormal metatarsal morphology, Enlargement of the wrists, Abnormality of the elbow, Abnormality ... ORPHA:98028
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Tho... OMIM:113000
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short 1st metacarp... OMIM:251450
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... OMIM:607323
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Mesomelic Limb Shortening And Bowing
Micrognathia, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... OMIM:249710
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexion contracture, Kyphosis,... OMIM:313420
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Short palm, Limitation of joint mobility, Micromelia ORPHA:168555
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Abnormality of the vertebral column, Micrognathia, Metaphyseal dysplas... ORPHA:93316
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... ORPHA:93360
Codas Syndrome
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Coronal cleft vertebrae, Generalized j... OMIM:600373
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped epiphysis, Ovoid vertebral bodies, Coxa vara, Cone-shaped metacarpal epip... ORPHA:63446
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Kyphosis... OMIM:130060
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... ORPHA:1427
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhiz... OMIM:300863
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... OMIM:250230
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs ORPHA:156728
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Distal tapering femur, Laryngotracheomal... ORPHA:56305
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... OMIM:271630
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... OMIM:611263
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Short clavicles, Talipes e... OMIM:309350
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Ruvalcaba Syndrome
Short metatarsal, Small hand, Kyphosis, Short metacarpal, Short foot, Limited elbow extension, Sh... OMIM:180870
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... ORPHA:1354
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Arachnodactyly, Kyphosis, Bilateral single transverse palmar cre... ORPHA:1548
Kyphomelic Dysplasia
Micrognathia, Large hands, Bowing of the long bones, Abnormal form of the vertebral bodies, Missi... ORPHA:1801
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Talipes equinovarus, Vertebral wedging, Increased sus... OMIM:259450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Talipes equinovarus, Hand clenching, Arthrogryposis multiplex congenita, Congenital... OMIM:618291
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormality of epiphysis morphology, Osteoarthritis, Micromelia, Platyspondyly ORPHA:93283
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation d... OMIM:609813
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology, Proximal placement of thumb, ... OMIM:314390
Spondyloepiphyseal Dysplasia Congenita
Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone mineral density, Short femur,... ORPHA:94068
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... ORPHA:1240
Bethlem Myopathy 2
Kyphosis, Hip dislocation, Flexion contracture, Scapular winging, Distal joint laxity, Scoliosis OMIM:616471
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... ORPHA:2098
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... OMIM:607326
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Micrognathia, Small epiphyses, Cervical instability, Laryngotracheomalacia, Abnormal vertebral mo... ORPHA:93346
Hall-Riggs Mental Retardation Syndrome
Metaphyseal dysplasia, Intrauterine growth retardation, Irregular vertebral endplates, Osteoporos... OMIM:234250
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... OMIM:208230
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... ORPHA:959
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Rocker bottom foot, Talipes equinovarus, Hand clenching, Neonatal death, Arthrogryp... OMIM:611890
Odontochondrodysplasia
Death in infancy, Cone-shaped epiphysis, Bowing of the long bones, Abnormality of the metaphysis,... ORPHA:166272
Autosomal Recessive Omodysplasia
Micrognathia, Abnormality of femur morphology, Rhizomelia, Craniosynostosis, Abnormality of the m... ORPHA:93329
Hyperphosphatasia With Mental Retardation Syndrome 6
2-3 toe syndactyly, Hip contracture, Shortening of all distal phalanges of the fingers, Limb unde... OMIM:616809
Weismann-Netter Syndrome
Fibular bowing, Horizontal sacrum, Lateral femoral bowing, Kyphosis, Anterior tibial bowing, Calv... OMIM:112350
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Limited elbow movement,... OMIM:218600
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Omodysplasia 1
Limited elbow flexion, Micrognathia, Rhizomelia, Limited knee flexion/extension, Limited knee ext... OMIM:258315
Fetal Akinesia Deformation Sequence 4
Micrognathia, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Flexion contractu... OMIM:618393
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Iliac crest serration, Posterior w... ORPHA:168549
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Talipes equinovarus, Limited elbow extension, Elbow flexion contracture, Micrognathia, Radioulnar... ORPHA:93359
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Occipital Horn Syndrome
Short clavicles, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Platyspondyly, Gen... OMIM:304150
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Talipes equinovarus, Arthrogryposis multiplex congenita, Knee flexion contractur... OMIM:600175
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Breath-Holding Spells
Cyanosis OMIM:607578
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Abnormal bon... OMIM:300244
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Single transverse palmar crease, Rhizomelia, Broad toe, Osteoporosis, Short... OMIM:218330
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Platyspo... OMIM:601356
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Multiple prenatal fractures, Abnormal bone structure, Super... OMIM:215140
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Ovoid vertebra... OMIM:102370
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Talipes equinovarus, Small hand, Kyphosis, Hip dislocation, Short foot, Scoliosis OMIM:300434
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Recurrent respiratory infections, Talipes equinovarus, Kyph... ORPHA:85288
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Mesomelia, Brachydactyly, Abnormal shoulder morphology ORPHA:1277
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... OMIM:223800
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Joint hypermobility, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Multip... OMIM:259420
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Ulnar deviation of finger, Hypoplasia of the radius, E... ORPHA:2249
Kniest Dysplasia
Hip contracture, Coronal cleft vertebrae, Flattened, squared-off epiphyses of tubular bones, Dela... OMIM:156550
Achondrogenesis Type 1A
Micrognathia, Aplasia/Hypoplasia of the lungs, Short neck, Short foot, Short palm, Recurrent frac... ORPHA:93299
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Apnea, Central Sleep
Cyanosis OMIM:207720
Myopathic Ehlers-Danlos Syndrome
Talipes equinovarus, Joint contracture of the hand, Elbow flexion contracture, Contractures invol... ORPHA:536516
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyphosis, Coxa va... OMIM:313400
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Short lower limbs, Multiple prenatal fractures, Platyspondyly, ... OMIM:259440
Acrocephalopolydactyly
Limb undergrowth, Short neck, Short long bone, Brachydactyly ORPHA:221054
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Micrognathia, Limb undergrowth, Spontaneous neonatal pneumothorax, Osteopenia, Wide anterior font... OMIM:225410
Acromesomelic Dysplasia 1
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... OMIM:602875
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Hip dislocation, Abnormality of pe... ORPHA:1508
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Micrognathia, Flexion contracture of toe, Abnormality of epiphysis morphology, Os... ORPHA:3409
Thanatophoric Dysplasia Type 1
Femoral bowing, Short greater sciatic notch, Aplasia/Hypoplasia of the lungs, Excessive wrinkled ... ORPHA:1860
Ck Syndrome
Micrognathia, Abnormal cortical bone morphology, Kyphosis, Joint hypermobility, Abnormal digit mo... OMIM:300831
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Femoroacetabular impingement, Spinal defo... ORPHA:321
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormality of femur morphology... ORPHA:3429
Thanatophoric Dysplasia
Abnormal ilium morphology, Intrauterine growth retardation, Abnormal sacroiliac joint morphology,... ORPHA:2655
Zimmermann-Laband Syndrome 3
Triphalangeal thumb, Kyphosis, Long thumb, Aplasia of the distal phalanx of the 5th toe, Long hal... OMIM:618658
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Tapered finger, Irregular vertebral endplates, Kyphoscoliosis, Pr... OMIM:612350
Achondrogenesis Type 1B
Micrognathia, Aplasia/Hypoplasia of the lungs, Talipes equinovarus, Short foot, Short neck, Micro... ORPHA:93298
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... ORPHA:1190
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Short ribs, Micromelia, Hypoplastic ilia OMIM:600972
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Intrauterine growth retardation, Adducted thumb, Decreased fibular diameter, Limb u... OMIM:616897
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Adducted thumb, Knee flexion contracture, Slender finger, Kyphosis, Hip dislocation... ORPHA:75840
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Abnormal bone structure, Abnormalit... ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularit... OMIM:307800
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Talipes equinovarus, Hemivertebrae, Dysplastic sacrum, Hypoplastic ... OMIM:134780
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Micrognathia, Large tarsal bones, Prominent interphalangeal joints, Coronal cleft vertebrae, Shor... OMIM:215150
Ulbright-Hodes Syndrome
Severe intrauterine growth retardation, Fibular aplasia, Micrognathia, Ovoid thoracolumbar verteb... ORPHA:3404
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Cubitus valgus, Prominent calcaneus, Toe clinodactyly, Limited elbow extension, Short fourth meta... ORPHA:457395
Bruck Syndrome
Talipes equinovarus, Bowing of the long bones, Osteoporosis, Arthrogryposis multiplex congenita, ... ORPHA:2771
Borjeson-Forssman-Lehmann Syndrome
Widely spaced toes, Tapered finger, Shortening of all distal phalanges of the fingers, Kyphosis, ... OMIM:301900
Alpha-Mannosidosis
Bowing of the long bones, Hypoplastic inferior ilia, Arthritis, Kyphosis, Synostosis of joints, G... ORPHA:61
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Short ph... OMIM:300106
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Enlargement of the wrists, Bowing of th... OMIM:600081
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253000
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Broad long bones, Abnormal cartilage matrix, Coronal cleft vertebr... ORPHA:2347
Kniest Dysplasia
Aplasia/hypoplasia of the extremities, Abnormal bone structure, Short long bone, Laryngotracheoma... ORPHA:485
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the elbow, Abnormality of ... ORPHA:1842
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Intrauterine growth retardation, Osteoporosis, Abnormality of the cervical spine, K... ORPHA:48431
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Hyperlordosis, Flexion contracture, Short neck, Scoliosis OMIM:300718
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Limb undergrowth, Joint contracture of the hand, Overlapping fingers, Camptodactyly, Micromelia OMIM:601016
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Hypoxemia, Honeycomb lung, Death in infancy, Desquamative interstitial pneu... OMIM:610921
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Limb joint contracture, Micrognathia, Intrauterine growth retardation,... ORPHA:284417
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Split hand,... ORPHA:392
3M Syndrome
Intrauterine growth retardation, Rocker bottom foot, Abnormality of the elbow, Congenital hip dis... ORPHA:2616
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Intrauterine growth retardation, Talipes equinovarus, Cran... OMIM:251230
Ruvalcaba Syndrome
Intrauterine growth retardation, Cone-shaped epiphysis, Abnormality of the elbow, Small hand, Pro... ORPHA:3121
Arthrogryposis, Distal, Type 4
Distal arthrogryposis, Tibial deviation of toes, Deviation of the 2nd toe, Talipes equinovarus, C... OMIM:609128
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Broad long bones, Limb undergrowth, Multiple prenatal fractures, Platyspondyly, Cr... OMIM:166210
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253010
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Multiple prenatal fractures, Type 1 collagen overmodification, Oste... OMIM:610915
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Hypophosphatasia, Infantile
Decreased calvarial ossification, Short lower limbs, Death in infancy, Bowing of the legs, Increa... OMIM:241500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Cerebellar atrophy, Iron accumulation in substantia nigra, Abnormal autonomic nerv... ORPHA:329284
Achondrogenesis
Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormality of bone mineral density, Short neck, M... ORPHA:932
Widow'S Peak Syndrome
Arthralgia/arthritis, Arthralgia of the hip, Hip osteoarthritis, Kyphosis, Narrow iliac wing, Hig... OMIM:314570
Acrodysostosis
Abnormality of the ulna, Spinal canal stenosis, Cone-shaped epiphysis, Epiphyseal stippling, Shor... ORPHA:950
Jeune Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Abnormality of the metaph... ORPHA:474
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Pulmonary hypoplasia, Talipes equinovarus, Bowing of the long bones, Neonatal death... OMIM:224410
Occipital Horn Syndrome
Absent tibia, Rickets, Aplastic clavicle, Synostosis of joints, Brachydactyly, Osteomalacia, Brui... ORPHA:198
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Irregular epiphyses, Short finger, Metaphyseal widening, Rhizomelia, Platyspondyly, Mesomelia, Br... OMIM:612813
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... ORPHA:93315
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis OMIM:618234
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Mesomelia-Synostoses Syndrome
Micrognathia, Abnormality of femur morphology, Ulnar deviation of finger, Synostosis of carpal bo... ORPHA:2496
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Metaphyseal irregularity, Short ribs, Short long bone, Carpal ... OMIM:250420
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth OMIM:274210
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Enlargement of the wrists, Bowing of th... OMIM:300554
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Anterior scalloping of vertebral bodies, Short toe, Single interphalangeal crease... OMIM:611717
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Kyphoscoliosis, Pl... OMIM:184253
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Craniosynostosis,... ORPHA:2145
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Clinodactyly of the 5th finger, Congenital foot contractu... ORPHA:3454
Shashi-Pena Syndrome
Kyphosis, Osteoporosis, Scoliosis, Deep palmar crease OMIM:617190
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Abnormal cartilage matrix, Talipes equinovarus, Epiphyseal stipp... ORPHA:86822
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Short neck, Coxa vara, Irregular, rachi... OMIM:184252
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Genu valgum, Kyphosis, Hyperlordosis, Joint stiffness, Short neck... OMIM:252605
Microcephaly, Short Stature, And Limb Abnormalities
Intrauterine growth retardation, Patellar aplasia, Dislocated radial head, Hypoplasia of the radi... OMIM:617604
Sponastrime Dysplasia
Abnormality of the vertebral column, Metaphyseal irregularity, Shallow acetabular fossae, Hip sub... ORPHA:93357
Dermatosparaxis Ehlers-Danlos Syndrome
Micrognathia, Coxa valga, Rickets, Excessive wrinkled skin, Avascular necrosis of the capital fem... ORPHA:1901
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Broad long bones, Pulmonary hypoplasia, Talipes equinovarus, Bowing of the legs, Li... ORPHA:1865
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral fusion, Talipes equinovarus, Sacral dimple, Short long bone, Vertebra... OMIM:618845
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Adducted thumb, Talipes equinovarus, Arthrogryposis multiplex congenita, Kyphosis, Flexion contra... OMIM:618484
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Scoliosis, Short neck, Clinoda... ORPHA:178148
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology ORPHA:369873
Short Stature-Obesity Syndrome
Micrognathia, Limb undergrowth, Clinodactyly of the 5th finger, Micromelia, Brachydactyly OMIM:269870
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Ulnar deviation of the hand, Pulmonary hypoplasia, Abnormal lung lobation, Metaphys... OMIM:263210
Platyspondylic Dysplasia, Torrance Type
Abnormality of the carpal bones, Genu varum, Pulmonary hypoplasia, Hypoplastic scapulae, Bowing o... ORPHA:85166
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Enlargement of the wrists, Bowing of th... OMIM:241530
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Talipes equinovarus, Kyphosis, Hip dislocation, Scoliosis, Lumbar hyperlordosis OMIM:616756
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Bowed humerus, Trident pelvis, Short long bone, Short humerus, Brachydactyly OMIM:619479
Microcephalic Primordial Dwarfism, Montreal Type
Micrognathia, Kyphosis, Reduced bone mineral density, Prematurely aged appearance, Vertebral segm... ORPHA:2617
Fountain Syndrome
Metaphyseal dysplasia, Large hands, Abnormal form of the vertebral bodies, Erythema, Coarse metap... ORPHA:3219
Achondrogenesis, Type Ii
Broad long bones, Hypoplastic iliac wing, Short ribs, Absent vertebral body mineralization, Still... OMIM:200610
Fibrochondrogenesis 1
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Hypoplas... OMIM:228520
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Kyphosis, Hip dysplasia, Short distal phalanx of finger, Scoliosis, Brach... ORPHA:1858
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
Caribbean Parkinsonism
Orthostatic hypotension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology ORPHA:97355
Chondrodysplasia-Disorder Of Sex Development Syndrome
Micromelia, Intrauterine growth retardation, Broad long bones, Short metacarpal, Abnormality of p... ORPHA:1422
Idiopathic Bronchiectasis
Bronchiectasis, Recurrent lower respiratory tract infections, Respiratory tract infection, Recurr... ORPHA:60033
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Chst3-Related Skeletal Dysplasia
Irregular epiphyses, Small epiphyses, Intervertebral space narrowing, Abnormality of the elbow, R... ORPHA:263463
Waardenburg Syndrome Type 3
Cutaneous finger syndactyly, Abnormality of the upper limb, Synostosis of carpal bones, Abnormali... ORPHA:896
Tetrasomy 5P
Micrognathia, Talipes equinovarus, Long fingers, Short neck, Wide anterior fontanel, Cyanosis, Re... ORPHA:3309
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Death in infancy, Bowing of the legs, Rhizomelia, Hypoplastic p... OMIM:610682
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Hypophosphatemic Bone Disease
Osteomalacia, Bowing of the legs, Rickets OMIM:146350
Asbestos Intoxication
Hypoxemia, Subpleural honeycombing, Lung adenocarcinoma, Interlobular septal thickening, Pleural ... ORPHA:2302
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Micrognathia, Radial bowing, Vertebral wedg... OMIM:617866
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Abnormality of pelvic girdle bone morphology,... ORPHA:2928
Infantile Systemic Hyalinosis
Increased susceptibility to fractures, Osteoporosis, Telangiectasia of the skin, Osteopenia, Shor... ORPHA:2176
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Micrognathia, Tapered finger, Kyphosis, Clinodactyly, Brachydactyly OMIM:617061
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Desquamative interstitial pneumonitis, Interlobular septal thickening, Neonatal... OMIM:265120
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Kyphosis, Brachydactyly, Camptodactyly of finger, Joint stiffness, C... ORPHA:137834
Spondyloepiphyseal Dysplasia Congenita
Talipes equinovarus, Delayed calcaneal ossification, Limitation of knee mobility, Atlantoaxial in... OMIM:183900
Hall-Riggs Syndrome
Abnormality of epiphysis morphology, Limb undergrowth, Abnormality of the metaphysis, Platyspondy... ORPHA:2107
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Large hands, Scoliosis, Kyphosis, Tapered finger ORPHA:276630
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Metatarsus adductus, 2-3 toe syndactyly, 4-5 toe syndactyly, Lumbar kyphosis in infancy, Kyphosco... ORPHA:3041
Distal Monosomy 17Q
Aplasia/Hypoplasia of the thumb, Abnormal form of the vertebral bodies, Small hand, Upper limb as... ORPHA:1597
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Death in infancy, Abnormal autonomic nervous system physiology OMIM:614498
Masa Syndrome
Hyperlordosis, Adducted thumb, Talipes equinovarus, Kyphosis OMIM:303350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Enlargem... OMIM:264700
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Intrauterine growth retardation, Large hands, Long fingers, Reduced subcutaneous ad... OMIM:264090
Choanal Atresia
Polydactyly, Craniosynostosis, Cyanosis, Recurrent respiratory infections, Tracheomalacia ORPHA:137914
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger s... OMIM:274000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Tracheobronchomalacia, Talipes equ... ORPHA:140
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... OMIM:601559
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Abnormal autonomic nervous system physiology OMIM:300894
Cerebrocostomandibular Syndrome
Micrognathia, Congenital hip dislocation, Calcaneal epiphyseal stippling, 11 pairs of ribs, Short... OMIM:117650
Clark-Baraitser syndrome
Broad palm, Tapered finger, Genu valgum, Kyphosis, Short palm, Scoliosis, Joint laxity OMIM:300602
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality... ORPHA:582
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Toe clinodactyly, Short phalanx of ... OMIM:615777
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Abnormal cartilage matrix, Pulmonary hypoplasia OMIM:245650
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Enlargem... OMIM:277440
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
4Q21 Microdeletion Syndrome
Toe syndactyly, Intrauterine growth retardation, Small hand, Kyphosis, Short foot, Short palm, Sc... ORPHA:238750
Pycnodysostosis
Increased bone mineral density, Spondylolysis, Micrognathia, Intrauterine growth retardation, Gen... ORPHA:763
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the long bones, S... OMIM:224400
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis, Tapered finger OMIM:618512
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Abnormality of the metaphysis, Platyspondyly, Kyphosis, Joint hy... ORPHA:93274
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Cervical spinal canal st... ORPHA:508533
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Biconcave vertebral bodies, Genu varum, Flat capital femoral epiphysis, Laryngotracheomalacia, Ky... OMIM:271510
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Micromelia, Single transverse palmar crease, Coro... OMIM:618870
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
C Syndrome
Toe syndactyly, Micrognathia, Ulnar deviation of finger, Limb undergrowth, Fused sternal ossifica... OMIM:211750
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis, Arachnodactyly, Joint laxity OMIM:248760
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Joint hyperflexibility, Kyphosis ORPHA:1875
Dysostosis, Stanescu Type
Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality of the metaphysis, Kyp... ORPHA:1798
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Adducted thumb, Shoulder dislocation, Arachnodactyly, Kyphosis, Scoliosis, Joint hyperflexibility ORPHA:2181
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Small hand, Kyphosis, Slender finger, Short foot, Clinodactyly of the 5th finger, Scoliosis OMIM:618443
Image Syndrome
Metaphyseal dysplasia, Intrauterine growth retardation, Micromelia ORPHA:85173
X-Linked Hypophosphatemia
Abnormality of lower-limb metaphyses, Abnormality of epiphysis morphology, Genu varum, Sacroiliac... ORPHA:89936
Primary Pulmonary Hypoplasia
Hypoxemia, Micrognathia, Intrauterine growth retardation, Pneumothorax, Cyanosis, Patellar hypopl... ORPHA:2257
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Platyspondyly, Kyphosis, Flared iliac wing, Scoliosis, Anterior beaking o... OMIM:230650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent lower respiratory tract infections, Rhizomelic arm shortening, Short metacarpal, Recurr... ORPHA:508542
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Small abnormally formed scapulae, Bowing of the long bones, Metaphys... OMIM:187600
Atkin-Flaitz Syndrome
Broad palm, Tapered finger, Genu valgum, Kyphosis, Short palm, Scoliosis, Joint laxity OMIM:300431
Nievergelt Syndrome
Tarsal synostosis, Talipes equinovarus, Genu valgum, Mesomelia, Metatarsal synostosis, Radioulnar... OMIM:163400
Crisponi Syndrome
Micrognathia, Death in infancy, Kyphosis, Limitation of joint mobility, Flexion contracture, Camp... ORPHA:1545
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Broad palm, Joint contracture of the hand, Congenital hip dislocation, Kyphosis, L... OMIM:300280
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, In... OMIM:610913
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Intrauterine growth retardation, Recurrent fractures, Micromeli... ORPHA:2772
Schaaf-Yang Syndrome
Narrow palm, Rocker bottom foot, Tapered finger, Small hand, Arthrogryposis multiplex congenita, ... OMIM:615547
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Thin bony cortex, Abnormality of femur morphology, Fibrous dysplasia of ... ORPHA:249
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Clubbing, Cyanosis, Recurrent respiratory infections, Intraal... OMIM:610910
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... ORPHA:3258
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Osteoglophonic Dysplasia
Broad metatarsal, Pseudoarthrosis, Broad palm, Hypoplastic scapulae, Short metatarsal, Increased ... OMIM:166250
Cole-Carpenter Syndrome
Micrognathia, Intrauterine growth retardation, Bowing of the long bones, Abnormal form of the ver... ORPHA:2050
Dent Disease 1
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Enlargement of the wrists, Bowing of th... OMIM:300009
Becker Nevus Syndrome
Upper limb asymmetry, Kyphosis, Spina bifida occulta, Scoliosis, Abnormality of tibia morphology,... ORPHA:64755
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... OMIM:164900
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Neonatal death, Syndactyly, Mesomelia, Hypoplasia of the ulna OMIM:228940
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Broad palm, Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metap... ORPHA:2502
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Genu valgum, Reduced bone mineral density, Short neck, Spina bifida occulta ORPHA:2983
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Recurrent lower... OMIM:619632
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Mesomelia, Broad thumb, Short neck, Lumbar hyperlordosis, Brachydactyly, Joint laxity ORPHA:171866
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... OMIM:231070
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Talipes equinovarus, Kyphosis, Joint hypermobility, Hip dislocation, Fragile skin,... OMIM:617821
Marden-Walker Syndrome
Micrognathia, Radioulnar synostosis, Intrauterine growth retardation, Talipes equinovarus, Joint ... OMIM:248700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Cubitus valgus, Deviation of the 5th finger, Camptodactyly of finger, Narrow... OMIM:143095
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Pathologic fracture, 11 pairs of ribs, ... OMIM:271640
Autism Spectrum Disorder Due To Auts2 Deficiency
Micrognathia, Decreased palmar creases, Narrow palm, Arthrogryposis multiplex congenita, Joint co... ORPHA:352490
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Kyphoscoliosis, Partial duplication of the phalanx of hand, Sacral dimple, Short di... OMIM:616331
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Osteopenia, Joint hypermobility, Vertebral compression fracture, Mesomelia OMIM:616229
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Genu valgum, Sandal gap, Micromelia, Joint hyperflexibility ORPHA:1035
Pelviscapular Dysplasia
Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb... ORPHA:93333
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Fibular aplasia, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Buerger Disease
Acrocyanosis ORPHA:36258
Ulnar-Mammary Syndrome
Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Hypopla... OMIM:181450
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Wiedemann-Rautenstrauch Syndrome
2-3 toe syndactyly, Cervical vertebral dysplasia, Camptodactyly of finger, Short humerus, Irregul... ORPHA:3455
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Blomstrand Lethal Chondrodysplasia
Micrognathia, Pulmonary hypoplasia, Abnormality of epiphysis morphology, Bowing of the long bones... ORPHA:50945
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Sandal gap, Kyphosis, Flexion contracture of... OMIM:619040
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Hidrotic ectodermal dysplasia, Kyphosis, Camptodactyly of finger, Scoliosis, Join... ORPHA:1883
Osteogenesis Imperfecta, Type Xi
Biconcave vertebral bodies, Vertebral wedging, Increased susceptibility to fractures, Kyphoscolio... OMIM:610968
Glutamine Deficiency, Congenital
Neonatal death, Erythema, Flexion contracture, Camptodactyly, Recurrent respiratory infections, M... OMIM:610015
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis ORPHA:505652
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Tricuspid Atresia
Cyanosis ORPHA:1209
Ethylmalonic Encephalopathy
Acrocyanosis, Abnormal brainstem MRI signal intensity, Petechiae ORPHA:51188
Intellectual Developmental Disorder, Autosomal Dominant 23
Micrognathia, Postaxial polydactyly, Broad distal phalanx of finger, Kyphosis, Sandal gap, Sacral... OMIM:615761
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, H... OMIM:602418
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Dysplastic sacrum, Short ribs, Iliac crest serration, Severe platyspondyly, ... OMIM:613320
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Triceps weakness, Weakness of the intrinsic hand muscles, Shoulder girdl... ORPHA:98913
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, 11 pairs of ribs, Iliac c... OMIM:250220
Congenital Myasthenic Syndrome
Spinal deformities, Kyphoscoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocatio... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Spinal deformities, Kyphoscoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocatio... ORPHA:98914
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Bronchiectasis, Recurrent bronchopulmonary infections, Reduced delayed hypersensitivity... OMIM:242700
Pallister-Hall-Like Syndrome
Micrognathia, Death in infancy, Short ribs, Hip dislocation, Postaxial hand polydactyly, Pulmonar... OMIM:241800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Recurrent respiratory infections, Flexion contracture, Short humerus, Short femur ORPHA:17
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Intrauterine growth retardation, Abnormal form of the ve... ORPHA:2311
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Cervical platyspondyly, Hypoplasia of the odontoid process, Palmop... OMIM:169170
Autosomal Recessive Hypophosphatemic Rickets
Spinal canal stenosis, Genu varum, Tibial bowing, Enlargement of the wrists, Abnormal sacroiliac ... ORPHA:289176
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Prematurely aged appearance, Clubbing of toes, Abnorm... ORPHA:1318
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Micrognathia, Toe syndactyly, Broad hallux phalanx, Abnormality of... ORPHA:3082
Hypomelanosis Of Ito
Kyphosis, Radial deviation of finger, Syndactyly, Scoliosis, Hand polydactyly, Clinodactyly OMIM:300337
Mucopolysaccharidosis, Type Vii
Metatarsus adductus, Chronic bronchitis, Talipes equinovarus, Anterior beaking of lumbar vertebra... OMIM:253220
Congenital Insensitivity To Pain With Severe Intellectual Disability
Micrognathia, Tibial bowing, Rocker bottom foot, Congenital bilateral hip dislocation, Limb under... ORPHA:453510
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Lopes-Maciel-Rodan Syndrome
Short foot, Small hand, Scoliosis, Kyphosis OMIM:617435
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Limited elbow extension, Abnormalit... ORPHA:175
Acro-Renal-Mandibular Syndrome
Micrognathia, Butterfly vertebrae, Intrauterine growth retardation, Hypoplastic scapulae, Hemiver... ORPHA:958
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Czech Dysplasia
Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebral endplates, Sh... OMIM:609162
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Limited pronation/supination of forearm, Broad long bones, Abnormal metatarsal morphology, Cubitu... ORPHA:163654
Pyknoachondrogenesis
Poorly ossified vertebrae, Short iliac bones, Aplastic pubic bones, Short ribs, Unossified sacrum... ORPHA:3003
Gm1 Gangliosidosis
Abnormal diaphysis morphology, Abnormality of epiphysis morphology, Limb undergrowth, Abnormal fo... ORPHA:354
Mucolipidosis Ii Alpha/Beta
Talipes equinovarus, Lower thoracic interpediculate narrowness, Pathologic fracture, Beaking of v... OMIM:252500
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Long fingers, Acrocyanosis, Clinodactyly of the 5th finger, Joint contracture of ... OMIM:614407
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Ullrich Congenital Muscular Dystrophy 1
Talipes equinovarus, Recurrent lower respiratory tract infections, Kyphosis, Hip dislocation, Spi... OMIM:254090
Hypertrichosis Cubiti
Rhizomelia, Abnormality of the elbow, Micromelia, Joint hyperflexibility ORPHA:2220
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Osteogenesis Imperfecta, Type X
Micrognathia, Bowing of the long bones, Generalized joint laxity, Platyspondyly, Osteopenia, Genu... OMIM:613848
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Limb undergrowth, Kyphoscoliosis, Osteopenia, Hip dislocation, F... OMIM:618005
Spondyloepimetaphyseal Dysplasia, Krakow Type
Irregular epiphyses, 2-3 toe syndactyly, Rhizomelia, Metaphyseal irregularity, Knee flexion contr... OMIM:618162
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Abnormal autonomic nervous sy... ORPHA:97229
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Short middle phalanx of finger, Intrauterine growth retardation, Abnormality of the elbow, Synost... ORPHA:1005
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Short... ORPHA:2021
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Enlargement ... ORPHA:289157
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Cyanosis, Desquamative interstitial pneumonitis, Recurrent upper ... OMIM:263000
Mental Retardation, Autosomal Dominant 57
Joint hypermobility, Craniosynostosis, Scoliosis, Kyphosis OMIM:618050
Marinesco-Sjogren Syndrome
Short metatarsal, Cubitus valgus, Kyphosis, Short metacarpal, Flexion contracture, Coxa valga, Sc... OMIM:248800
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Increased susceptibility to fractures, Reduced bone mineral densit... OMIM:166220
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Brachyolmia Type 3
Proximal femoral metaphyseal irregularity, Platyspondyly, Kyphosis, Radial deviation of finger, S... OMIM:113500
Multiple System Atrophy
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... ORPHA:102
Mental Retardation, Autosomal Dominant 26
Decreased palmar creases, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis OMIM:615834
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Al-Gazali Syndrome
Micrognathia, Broad distal phalanx of finger, Wrist flexion contracture, Osteopenia, Recurrent pn... OMIM:609465
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... ORPHA:85167
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Kyphosis, Fused cervical vertebrae, Hyperlordosis, Short neck, Abnormal hip bone mo... ORPHA:2522
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Short... ORPHA:2911
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormality of the metaphysis, Kyphosis, Genu valgum, Ovoid vertebral bodie... ORPHA:583
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, Cyanosis, Pulmona... ORPHA:199241
Sjögren-Larsson Syndrome
Erythema, Kyphosis, Urticaria, Joint stiffness, Scoliosis ORPHA:816
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Bronchiectasis, Interlobular septal thicken... ORPHA:79126
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Acrocyanosis, Metaphyseal sclerosis, Clubbing of ... ORPHA:2905
Harrod Syndrome
Intrauterine growth retardation, Arachnodactyly, Kyphosis, Abnormality of pelvic girdle bone morp... ORPHA:2115
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia OMIM:156232
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Talipes equinovarus, Metaphyseal widening, Thickened cortex of l... ORPHA:3206
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Reduced bone mineral density, Pathologic fracture, Osteomalacia, Hypophosphat... ORPHA:157215
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Intrauterine growth retardation, Hand oligodactyly,... ORPHA:2879
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets ORPHA:89937
Opsismodysplasia
Metaphyseal cupping, Rhizomelia, Short foot, Severe platyspondyly, Recurrent respiratory infectio... OMIM:258480
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Abnormal diaphysis morphology, Abnormality of the uln... ORPHA:1328
Tarp Syndrome
Micrognathia, Intrauterine growth retardation, Talipes equinovarus, Rocker bottom foot, Postaxial... ORPHA:2886
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Scapuloperoneal Spinal Muscular Atrophy
Metatarsus adductus, Scapular muscle atrophy, Talipes equinovarus, Small hand, Kyphosis, Hip dysp... OMIM:181405
Typical Nemaline Myopathy
Micrognathia, Genu varum, Arthrogryposis multiplex congenita, Genu valgum, Kyphosis, Hip dislocat... ORPHA:171436
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Bowing of the long bones, Osteoporosis, Kyphosis, Increased bone mineral density, Recu... OMIM:239000
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Kyphosis, Death in early adulthood, Scoliosis, Micromelia ORPHA:79107
Pulmonary Alveolar Microlithiasis
Hypoxemia, Subpleural interstitial thickening, Bronchiectasis, Interlobular septal thickening, Pn... ORPHA:60025
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... OMIM:252600
Dravet Syndrome
Limited knee extension, Tibial torsion, Cyanotic episode ORPHA:33069
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Cleidocranial Dysplasia
Aplastic clavicle, Short ribs, Absent frontal sinuses, Increased bone mineral density, Cone-shape... OMIM:119600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Rickets, Abnormal form of the vertebral bodies, Aplastic... ORPHA:2636
Cole-Carpenter Syndrome 2
Platyspondyly, Osteopenia, Narrow iliac wing, Kyphosis, Coronal craniosynostosis, Microretrognath... OMIM:616294
Myopathy, Centronuclear, 2
Talipes equinovarus, Kyphosis, Hyperlordosis, Flexion contracture, Scapular winging, Scoliosis OMIM:255200
Wieacker-Wolff Syndrome
Micrognathia, Talipes equinovarus, Proximal placement of thumb, Arthrogryposis multiplex congenit... OMIM:314580
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Sandal gap, Kyphosis, Short foot, Brachydactyly, Joint laxity OMIM:300354
Metaphyseal Chondrodysplasia, Jansen Type