Gene: Kdm6b MGI:2448492

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Kdm6b (1 diseases)
Human diseases predicted to be associated with Kdm6b (1031 diseases)

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	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

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