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Gene: Gpc6 MGI:1346322

Gene Summary

Name:

glypican 6

Synonyms:

6720429C22Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating calcium level		Gpc6^{tm2a(EUCOMM)Wtsi}	HOM		Early adult	6.46×10^-05
increased circulating alanine transaminase level		Gpc6^{tm2a(EUCOMM)Wtsi}	HOM		Early adult	1.27×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Gpc6^{tm2a(EUCOMM)Wtsi}
HOM, Male, WTSI

View all 54 images

Gpc6^{tm2a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Gpc6 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 Gpc6 (2 diseases)
Human diseases predicted to be associated with Gpc6 (649 diseases)

The table below shows human diseases associated to Gpc6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Omodysplasia 1		Limited knee flexion/extension, Limited knee flexion, Increased fibular diameter, Short tibia, Sh...	OMIM:258315
Autosomal Recessive Omodysplasia		Abnormality of femur morphology, Abnormal metaphysis morphology, Craniosynostosis, Micrognathia, ...	ORPHA:93329

The table below shows human diseases predicted to be associated to Gpc6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Acromesomelic Dysplasia 2A	Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H...	OMIM:200700
Multiple Epiphyseal Dysplasia, Lowry Type	Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys...	ORPHA:166016
Multiple Epiphyseal Dysplasia With Robin Phenotype	Cleft palate, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomel...	OMIM:601560
Adamantinoma	Hypercalcemia	ORPHA:55881
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Blue Diaper Syndrome	Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod...	OMIM:601376
Acromesomelic Dysplasia, Grebe Type	Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ...	ORPHA:2098
Eiken Syndrome	Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir...	ORPHA:79106
Faciocardiomelic Dysplasia, Lethal	Narrow mouth, Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasi...	OMIM:227270
Lethal Faciocardiomelic Dysplasia	Intrauterine growth retardation, Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radia...	ORPHA:1972
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd...	OMIM:118651
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Syndactyly Type 4	Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ...	ORPHA:93405
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Microcephaly, Hypopl...	OMIM:612447
Acromesomelic Dysplasia 2C	Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr...	OMIM:201250
Osebold-Remondini Syndrome	Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short...	OMIM:112910
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys...	OMIM:607778
Leri-Weill Dyschondrosteosis	High palate, Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valg...	OMIM:127300
Microphthalmia With Limb Anomalies	High palate, Cleft upper lip, Tibial bowing, Flared nostrils, Talipes equinovarus, Hand oligodact...	OMIM:206920
Boomerang Dysplasia	Hypoplastic nasal septum, Hypoplastic iliac body, Wide nasal bridge, Neonatal death, Underdevelop...	OMIM:112310
Acrofacial Dysostosis Syndrome Of Rodriguez	High palate, Overlapping toe, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Short ti...	OMIM:201170
Hypomagnesemia 1, Intestinal	Hypomagnesemia, Hypocalcemia	OMIM:602014
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture	OMIM:607278
Rhizomelic Dysplasia, Ain-Naz Type	Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor...	OMIM:619598
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ...	OMIM:147891
Orofaciodigital Syndrome Viii	High palate, Cleft palate, Short tibia, Broad nasal tip, Syndactyly, Polydactyly, Bifid nasal tip...	OMIM:300484
Fibular Hemimelia	Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma...	ORPHA:93323
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Short humerus, Epiphyseal stippling, Short femur	OMIM:600121
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Tooth agenesis, Depressed nasal ridge, Bilateral cleft lip and palate, Absent nasal septal cartil...	ORPHA:2003
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia...	ORPHA:3329
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia	OMIM:615361
Langer Mesomelic Dysplasia	Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul...	OMIM:249700
Langer Mesomelic Dysplasia	High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short fem...	ORPHA:2632
Acromesomelic Dysplasia 2B	Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing...	OMIM:228900
Léri-Weill Dyschondrosteosis	Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep...	ORPHA:240
Fibrochondrogenesis 1	Cleft palate, Depressed nasal bridge, Rhizomelia, Short nose, Dumbbell-shaped long bone, Short lo...	OMIM:228520
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Short tibia, Pseudoarthrosis	OMIM:156230
Spondylometaphyseal Dysplasia, East African Type	Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,...	OMIM:611702
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol...	ORPHA:2634
Ulna And Fibula, Hypoplasia Of	Hypoplasia of the ulna, Fibular hypoplasia	OMIM:191400
Eiken Syndrome	Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Long hallux, Eruption failur...	OMIM:600002
Seckel Syndrome 1	High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ...	OMIM:210600
Palant Cleft Palate Syndrome	Bulbous nose, Cleft palate, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:260150
Ophthalmomandibulomelic Dysplasia	Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Fibular hyp...	OMIM:164900
Femoral-Facial Syndrome	Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Cleft palate, Short femur, Micro...	ORPHA:1988
Orofaciodigital Syndrome Ix	High palate, Accessory oral frenulum, Cleft palate, Short tibia, Abnormality of the dentition, Br...	OMIM:258865
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial...	ORPHA:140
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno...	ORPHA:2639
Hypochondroplasia	Macrocephaly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Brachydactyly, Genu varum...	OMIM:146000
Mesomelic Dysplasia, Savarirayan Type	Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen...	ORPHA:85170
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy...	OMIM:619217
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Orofaciodigital Syndrome Type 10	Hypoplasia of proximal radius, Short toe, Accessory oral frenulum, Mesomelic leg shortening, Prea...	ORPHA:2756
Ulnar/Fibular Ray Defect And Brachydactyly	Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila...	OMIM:608571
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer...	OMIM:171480
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo...	OMIM:311895
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat...	OMIM:228930
Orofaciodigital Syndrome X	Cleft palate, Hand oligodactyly, Depressed nasal bridge, Coalescence of tarsal bones, Fibular apl...	OMIM:165590
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l...	OMIM:613091
Robin Sequence With Cleft Mandible And Limb Anomalies	High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin...	OMIM:268305
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas...	OMIM:250460
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia	OMIM:246570
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Acromicric Dysplasia	Fifth metacarpal with ulnar notch, Narrow mouth, Bulbous nose, Short metacarpal, Cone-shaped epip...	OMIM:102370
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Cleft palate, Short femur, Glossoptosis, Femoral bowing, Metaphyseal widening, Micrognathia, Brac...	ORPHA:440354
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact...	ORPHA:52056
Acrofacial Dysostosis, Rodríguez Type	Aplasia/Hypoplasia of the ulna, Intrauterine growth retardation, Microretrognathia, Talipes equin...	ORPHA:1788
Mesomelic Dysplasia, Savarirayan Type	Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H...	OMIM:605274
Brachymesomelia-Renal Syndrome	Hypoplasia of the radius, Micrognathia, Depressed nasal bridge, Mesomelic arm shortening, Fibular...	OMIM:113470
Microcephaly-Micromelia Syndrome	Forearm undergrowth, Narrow mouth, Talipes equinovarus, Convex nasal ridge, Cleft palate, Cranios...	OMIM:251230
Atelosteogenesis, Type I	Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, 11 pairs of ribs, Rhizomeli...	OMIM:108720
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna	ORPHA:1118
Holoprosencephaly 4	Depressed nasal bridge, Depressed nasal tip, Median cleft lip and palate, Absent nasal septal car...	OMIM:142946
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ...	OMIM:607078
Otopalatodigital Syndrome, Type Ii	Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Depressed nasal bridge, Congeni...	OMIM:304120
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate, Hand oligodactyly, Micrognathia	OMIM:172880
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	High palate, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, U-Sh...	OMIM:609945
Orofaciodigital Syndrome Iv	High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Micrognat...	OMIM:258860
Microphthalmia With Limb Anomalies	High palate, Cleft palate, Depressed nasal bridge, Macrodontia, Sandal gap, Bowing of the long bo...	ORPHA:1106
Acheiropody	Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h...	OMIM:200500
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Cleft palate, Micrognathia, Microcephaly, Arthrogryposis multiplex congenita...	OMIM:616570
Acheiropodia	Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho...	ORPHA:931
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Coxa vara, Short long bone, Enlarged metaphyses, Irregular femoral epiphysis, Genu varum, Upper-l...	OMIM:618728
Mesomelic Limb Shortening And Bowing	Bowing of the legs, Mesomelic leg shortening, Cleft palate, Micrognathia, Camptodactyly of finger...	OMIM:249710
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Flexion contracture, Short femur, Adducted thumb, Osteopenia, Flared ...	OMIM:616897
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia	OMIM:188740
Congenital Absence Of Upper Arm And Forearm With Hand Present	Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still...	ORPHA:294975
Atelosteogenesis Type Ii	Broad phalanx, Cleft palate, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu ...	ORPHA:56304
Multiple Epiphyseal Dysplasia Type 1	Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Short long bone, Finger joint hyperm...	ORPHA:93308
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Broad femoral neck, Short femoral...	OMIM:609324
Spondyloepiphyseal Dysplasia Congenita	Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os...	ORPHA:94068
Mueller-Weiss Syndrome	Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi...	ORPHA:566943
Pseudoachondroplasia	Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg...	ORPHA:750
Laurin-Sandrow Syndrome	Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po...	OMIM:135750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ...	ORPHA:2141
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Hypervitaminosis A, Susceptibility To	Hypercalcemia	OMIM:240150
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, ...	ORPHA:3320
Campomelic Dysplasia	Poorly ossified cervical vertebrae, High palate, Macrocephaly, Cleft palate, Depressed nasal ridg...	OMIM:114290
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl...	OMIM:113310
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Isolated Arrhinia	Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal septum, Absent...	ORPHA:1134
Multiple Metaphyseal Dysplasia	Short distal phalanx of finger, Macrocephaly, Depressed nasal ridge, Abnormal hip bone morphology...	ORPHA:93430
Otoonychoperoneal Syndrome	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Anal atresia, Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxi...	OMIM:617925
Multiple Synostoses Syndrome 1	Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short philtrum, Symphalangi...	OMIM:186500
Acro-Renal-Mandibular Syndrome	High palate, Aplasia/Hypoplasia of the tongue, Split foot, Hypoplasia of the radius, Tracheoesoph...	ORPHA:958
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ...	ORPHA:1986
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Narrow mouth, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen...	OMIM:614078
Schneckenbecken Dysplasia	Hypoplastic vertebral bodies, Macrocephaly, Cleft palate, Short ribs, Increased fibular diameter,...	ORPHA:3144
Boomerang Dysplasia	Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma...	ORPHA:1263
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn...	OMIM:618363
Short Rib-Polydactyly Syndrome	Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones...	ORPHA:1505
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas...	OMIM:617719
Osteopathia Striata With Cranial Sclerosis	High palate, Macrocephaly, Cleft palate, Thick lower lip vermilion, Cleft upper lip, Anal atresia...	OMIM:300373
Acromesomelic Dysplasia 3	Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac...	OMIM:609441
Kyphomelic Dysplasia	Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Cleft palat...	OMIM:211350
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo...	ORPHA:3104
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular...	ORPHA:174
Holoprosencephaly 7	Macrocephaly, Depressed nasal tip, Bilateral cleft lip and palate, Flat nasal alae, Short nose, M...	OMIM:610828
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, De...	ORPHA:2256
Laurin-Sandrow Syndrome	Depressed nasal ridge, Fibular duplication, Abnormality of the nose, Abnormal metacarpal morpholo...	ORPHA:2378
Phocomelia, Schinzel Type	Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Micromelia, Aplasia/Hypoplasia...	ORPHA:2879
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Short femur, Amelia, Bilateral cleft lip and palate, Foot oligodactyly	OMIM:601357
Pelviscapular Dysplasia	Mesomelic leg shortening, Macrocephaly, Short femur, Hypoplastic ilia, Congenital hip dislocation...	ORPHA:93333
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla...	OMIM:226900
Multiple Synostoses Syndrome 3	Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos...	OMIM:612961
Camptodactyly Syndrome, Guadalajara, Type I	High palate, Depressed nasal bridge, Short nose, Twelfth rib hypoplasia, Intrauterine growth reta...	OMIM:211910
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Depressed nasal ridge, Abnormal hip bone morphology, Abnormality of ...	ORPHA:1837
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94090
Fibula, Recurrent Dislocation Of Head Of	Abnormality of fibula morphology	OMIM:135800
Omodysplasia 1	Limited knee flexion/extension, Limited knee flexion, Increased fibular diameter, Short tibia, Sh...	OMIM:258315
Kinsship Syndrome	Wide mouth, Bulbous nose, Osteopenia, Short philtrum, Primary microcephaly, Ankyloglossia, Thick ...	OMIM:619297
Congenital Disorder Of Glycosylation, Type Ig	Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short philtrum, Short hu...	OMIM:607143
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Flattened proximal rad...	OMIM:271530
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Median cleft palate, Talipes equinovarus, Bilateral talipes equinovarus, Depressed nasal bridge, ...	OMIM:119800
Epiphyseal Dysplasia, Multiple, 1	Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dysplasia, Generalized joint laxity,...	OMIM:132400
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Thanatophoric Dysplasia Type 1	Joint stiffness, Wide anterior fontanel, Macrocephaly, Short femur, Femoral bowing, Hypoplastic i...	ORPHA:1860
Tibial Hemimelia	Cleft palate, Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux...	ORPHA:93322
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Flared metaphysis, Oligodontia,...	OMIM:601668
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Dyschondrosteosis And Nephritis	Ulnar bowing, Short tibia, Radial bowing, Short forearm	OMIM:127350
Diastrophic Dysplasia	Hip contracture, Hypoplastic cervical vertebrae, Talipes equinovarus, Cleft palate, Costal cartil...	OMIM:222600
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened...	ORPHA:93356
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate...	ORPHA:93316
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Generalized joint laxity, Broad femoral neck, Short femoral neck, Genu varu...	OMIM:609325
Stuve-Wiedemann Syndrome 1	Pursed lips, Femoral bowing, Ulnar deviation of finger, Carious teeth, Short nose, Contracture of...	OMIM:601559
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Craniosynostosis	OMIM:218550
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Cleft palate, Pierre-Robin sequence, Depressed nasal bridge, Premature oste...	OMIM:184840
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Metaphyseal Anadysplasia 2	Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec...	OMIM:613073
Acitretin/Etretinate Embryopathy	High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Hypoplastic nasal septum, Mi...	ORPHA:40366
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal...	ORPHA:90650
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Cousin Syndrome	Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger,...	OMIM:260660
Atelosteogenesis Type I	Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol...	ORPHA:1190
Catel-Manzke Syndrome	Joint stiffness, Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Cleft palate...	ORPHA:1388
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Cleft palate, Arachnodactyly, Broad nasal tip, Microcephaly, Large hands, Cleft lip, Pes planus, ...	OMIM:300263
Orofaciodigital Syndrome Type 2	High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati...	ORPHA:2751
Disorganization, Mouse, Homolog Of	Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation	OMIM:223200
Cranioectodermal Dysplasia 1	High palate, Microdontia, Sagittal craniosynostosis, Rhizomelia, Short distal phalanx of finger, ...	OMIM:218330
Dyssegmental Dysplasia With Glaucoma	Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Cleft palate, Flared me...	OMIM:601561
Ivic Syndrome	Carpal synostosis, Short clavicles, Anal atresia, Absent thumb, Limited interphalangeal movement,...	OMIM:147750
Familial Isolated Hyperparathyroidism	Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Temple Syndrome	High palate, Relative macrocephaly, Flexion contracture, Cleft palate, Small hand, Micrognathia, ...	OMIM:616222
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Death in adolescence, Neonatal death, Camptodactyly, Bowing of t...	OMIM:619751
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis...	ORPHA:2502
Zechi-Ceide Syndrome	Short distal phalanx of finger, Cleft upper lip, Cleft palate, Oligodontia, Long foot, Wide nose,...	OMIM:612916
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o...	OMIM:208500
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari...	OMIM:183849
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Micromelia, Delayed eruption of...	OMIM:184260
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, High palate, Abnormality of the tongue, Wide anterior fontanel, C...	ORPHA:3098
Paget Disease Of Bone 2, Early-Onset	Premature loss of teeth, Sclerosis of skull base, Short femur, Fractures of the long bones, Femor...	OMIM:602080
Atelosteogenesis Type Iii	Laryngotracheomalacia, High palate, Talipes equinovarus, Absent humerus, Hand clenching, Knee dis...	ORPHA:56305
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Sclerosis of ...	ORPHA:85188
Otopalatodigital Syndrome Type 2	Cleft palate, Depressed nasal bridge, Short nose, Bowing of the long bones, Carpal synostosis, In...	ORPHA:90652
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Camptodactyly of finger, Abnor...	ORPHA:2631
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Aase-Smith Syndrome	Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Cleft palate, ...	ORPHA:916
Renal Dysplasia-Limb Defects Syndrome	Aplasia of the ulna, High palate, Narrow mouth, Short sternum, Short metacarpal, Talipes equinova...	OMIM:266910
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex...	ORPHA:1856
Dyssegmental Dysplasia, Silverman-Handmaker Type	Narrow mouth, Talipes equinovarus, Micrognathia, Neonatal death, Bowing of the long bones, Short ...	OMIM:224410
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Small hand, Short foot, Cleft palate, Abnormal hand morphology	OMIM:300261
Blount Disease	Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the...	ORPHA:2768
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate	Cleft upper lip, Microcephaly, Cleft palate, Preaxial hand polydactyly	OMIM:601420
Arthrogryposis, Distal, Type 1C	High palate, Hip contracture, Metacarpophalangeal joint contracture, Clinodactyly of the 5th fing...	OMIM:619110
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Brachydactyly, Limb undergrowth, Short nose, Short long bone	ORPHA:221054
Orofaciodigital Syndrome Xi	Bulbous nose, Cleft palate, Postaxial polydactyly, Hypoplasia of the odontoid process, Wide nasal...	OMIM:612913
Acrorenal Syndrome	Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia...	ORPHA:971
Pallister-Hall-Like Syndrome	Macrocephaly, Cleft palate, Short ribs, Micrognathia, Depressed nasal bridge, Micromelia, Postaxi...	OMIM:241800
Slc35A2-Cdg	Intrauterine growth retardation, Talipes equinovarus, Craniosynostosis, Osteopenia, Camptodactyly...	ORPHA:356961
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Bulbous nose, Cleft palate, Arachnodactyly, Micrognathia, Microcephaly, Death in in...	ORPHA:93946
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short ribs, Metaphyseal widening, Death in childhood, Depressed nasal bridge, Brachydactyly, Limb...	OMIM:618961
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Cleft palate, Micrognathia...	OMIM:256050
Metaphyseal Chondrodysplasia, Schmid Type	Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang...	OMIM:156500
Multiple Epiphyseal Dysplasia Type 4	High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Upper limb undergrowth, Abnor...	ORPHA:93307
Acrorenal-Mandibular Syndrome	High palate, Narrow palate, Split foot, Hypoplasia of the radius, Hand polydactyly, Micrognathia,...	OMIM:200980
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio...	ORPHA:2725
Maxillonasal Dysplasia	Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Depressed nasal ridge, D...	ORPHA:1248
Simpson-Golabi-Behmel Syndrome, Type 2	High palate, Wide mouth, U-Shaped upper lip vermilion, Macrocephaly, Talipes equinovarus, Cleft p...	OMIM:300209
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa...	ORPHA:988
Mietens Syndrome	Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas...	ORPHA:2557
Desbuquois Dysplasia 2	Cleft palate, Depressed nasal bridge, Cutaneous syndactyly, Monkey wrench femoral neck, Intrauter...	OMIM:615777
Split-Hand/Foot Malformation 1	Ectrodactyly, Hand oligodactyly, Split foot, Cleft palate, Syndactyly, Broad hallux, Triphalangea...	OMIM:183600
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Rapadilino Syndrome	High palate, Slender nose, High, narrow palate, Absent thumb, Cleft palate, Aplasia/Hypoplasia of...	OMIM:266280
Lethal Recessive Chondrodysplasia	Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo...	ORPHA:1423
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia	OMIM:145980
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f...	OMIM:251450
Coloboma Of Macula And Skeletal Anomalies	Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger, Genu valgum, Hal...	OMIM:216800
Thrombocytopenia-Absent Radius Syndrome	Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat...	OMIM:274000
Schneckenbecken Dysplasia	Metaphyseal irregularity, Advanced ossification of carpal bones, Macrocephaly, Cleft palate, Shor...	OMIM:269250
Metaphyseal Acroscyphodysplasia	Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Micromelia, Short humerus, ...	OMIM:250215
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor...	OMIM:608728
Hypocalcemia, Autosomal Dominant 1	Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia	OMIM:601198
Weismann-Netter Syndrome	Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo...	ORPHA:3344
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Bulbous nose, Short metacarpal, Flexion contracture, Cleft palate, Microgna...	OMIM:215150
Split-Foot Deformity With Mandibulofacial Dysostosis	Cleft palate, Split foot, Micrognathia, Split hand, Toe syndactyly	OMIM:183700
Pelvis-Shoulder Dysplasia	Thick anterior alveolar ridges, Dislocated radial head, Talipes equinovarus, Cleft palate, Aplasi...	ORPHA:2839
Sponastrime Dysplasia	Depressed nasal bridge, Microdontia, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Hip s...	ORPHA:93357
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal nasal bone morphology, Downturned corners of mouth, Clin...	ORPHA:521308
Pseudoachondroplasia	Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of...	OMIM:177170
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha...	ORPHA:457395
2Q32Q33 Microdeletion Syndrome	High palate, Narrow mouth, Clinodactyly of the 5th finger, Toe clinodactyly, Talipes equinovarus,...	ORPHA:251019
Catifa Syndrome	Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Mild microcephaly, Cam...	OMIM:618761
Xylt1-Cdg	Short clavicles, Relative macrocephaly, Cleft palate, Flared metaphysis, Microcephaly, Long philt...	ORPHA:370930
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia	OMIM:228250
Meckel Syndrome, Type 8	Cleft upper lip, Talipes equinovarus, Cleft palate, Depressed nasal ridge, Microcephaly, Polydact...	OMIM:613885
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Terminal Osseous Dysplasia	Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Cleft palate,...	OMIM:300244
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac...	OMIM:119100
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Joint stiffness, Intrauterine growth retardation, Hypodontia, Cleft palate, Long...	OMIM:619184
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets of the lower limbs, Delayed epiphyseal ossification, Metaphyseal irregularity, Tibial bow...	OMIM:600785
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	High palate, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossif...	OMIM:276820
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hydrocephalus With Associated Malformations	Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal foot morphology,...	OMIM:236640
Otospondylomegaepiphyseal Dysplasia	Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Flared femoral metaphysis, S...	ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Missouri Type	Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ...	OMIM:602111
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Otopalatodigital Syndrome, Type I	Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalanx of...	OMIM:311300
Weyers Ulnar Ray/Oligodactyly Syndrome	Aplasia/Hypoplasia of the ulna, Cleft upper lip, High palate, Hand oligodactyly, Absent thumb, Hy...	OMIM:602418
Achondrogenesis, Type Ii	Cleft palate, Short ribs, Short tubular bones of the hand, Absent vertebral body mineralization, ...	OMIM:200610
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia	OMIM:145981
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ...	OMIM:609616
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas...	OMIM:610797
Uremic Pruritus	Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia	ORPHA:94059
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Holoprosencephaly 2	Microcephaly, Proboscis, Bifid uvula, Bilateral cleft lip and palate, Aplasia of the nasal bone, ...	OMIM:157170
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Thick upper lip vermilion, Wide mouth, Limited pronation/supination of forearm, Rhizo-meso-acrome...	ORPHA:163654
Hypophosphatasia	Hypercalcemia	ORPHA:436
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Intrauterine growth retardation, Absent ...	OMIM:210710
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia	OMIM:612089
Short Stature, Dauber-Argente Type	Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Microcephal...	OMIM:619489
Brachydactyly, Type B1	Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Syndactyly, Aplasia/Hy...	OMIM:113000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Dep...	OMIM:300990
Diastrophic Dysplasia	Joint stiffness, Intrauterine growth retardation, Hypoplastic cervical vertebrae, Macrocephaly, I...	ORPHA:628
Intellectual Developmental Disorder, Autosomal Dominant 53	Wide mouth, Duodenal atresia, Macrocephaly, Short femur, Intestinal malrotation, Microcephaly, Ge...	OMIM:617798
Teebi Hypertelorism Syndrome 2	High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ...	OMIM:619736
Microtriplication 11Q24.1	Clinodactyly of the 5th finger, Talipes equinovarus, Cleft palate, Irregularly spaced teeth, Smal...	ORPHA:289522
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd...	DECIPHER:46
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Cleft upper lip, Joint contracture of the hand, Cleft palate, Depressed nasal ridge, Overlapping ...	OMIM:601016
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Joint stiffness, Tibial bowing, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Narrow ...	OMIM:608940
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss...	ORPHA:93346
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Wide mouth, Rhizo-meso-acromelic limb shortening, Depressed nasal bridge, Small epiphyses, Short ...	OMIM:611717
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Macrocephaly, Flexion contracture, Neonatal death, Congenital pyloric atresia, Anteverted nares, ...	OMIM:612138
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fon...	ORPHA:163649
Jackson-Weiss Syndrome	2-3 toe syndactyly, Short metatarsal, Convex nasal ridge, Split foot, Broad hallux phalanx, Symph...	ORPHA:1540
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, High palate, Macroglossia, Trache...	ORPHA:444077
Stickler Syndrome Type 1	Cleft palate, Osteoarthritis, Long philtrum, Abnormality of vertebral epiphysis morphology, Short...	ORPHA:90653
Brachydactyly, Mononen Type	Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ...	OMIM:301940
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cleft palate, Short ribs, Intestinal malrotation, Brachydactyly, Postaxial polysyndactyly of foot...	OMIM:263520
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Kniest Dysplasia	Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Cleft palate, Tracheo...	OMIM:156550
Stickler Syndrome, Type Ii	High, narrow palate, Cleft palate, Arachnodactyly, Micrognathia, Depressed nasal bridge, Bifid uv...	OMIM:604841
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notc...	OMIM:602557
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Overlapping toe, Craniosynostosis, Osteopenia, Femoral bowing, Depressed nasal bridge, Microcepha...	OMIM:616723
Dysspondyloenchondromatosis	Generalized joint laxity, Osteoarthritis, Abnormal ulnar metaphysis morphology, Abnormality of fi...	ORPHA:85198
Acropectorovertebral Dysplasia	Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos...	ORPHA:957
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis	High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse...	OMIM:245160
Isolated Osteopoikilosis	Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b...	ORPHA:166119
Spondyloepimetaphyseal Dysplasia With Joint Laxity	High palate, Dislocated radial head, Talipes equinovarus, Long upper lip, Cleft palate, Hypoplast...	ORPHA:93359
Oculocerebrodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture of thumb, Miscarriage, Absent glenoid fossa, Clinodactyly of the 3rd finger, ...	ORPHA:96334
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Microcephaly, Underdeveloped nasal alae, Cleft palate	OMIM:601355
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Cl...	OMIM:184250
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	High palate, Narrow mouth, Cleft palate, Small hand, Micrognathia, Short philtrum, Depressed nasa...	ORPHA:96184
Bartsocas-Papas Syndrome	Narrow mouth, Absent thumb, Cleft palate, Micrognathia, Microcephaly, Synostosis of joints, Short...	ORPHA:1234
Shox-Related Short Stature	Forearm undergrowth, High palate, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower lim...	ORPHA:314795
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the legs, Narrow mouth, Miscarriage, Limitation of joint mobility, Talipes equinovarus,...	ORPHA:1865
Achondroplasia	Bowing of the legs, Wide anterior fontanel, Macrocephaly, Abnormal iliac wing morphology, Narrow ...	ORPHA:15
Ectrodactyly-Cleft Palate Syndrome	Split hand, Cleft palate	OMIM:129830
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Metaphyseal cupping, Severe limb shortening, Macrocephaly, Decreased cranial base ossification, S...	OMIM:151210
Say Syndrome	Short distal phalanx of finger, Cleft palate, Ulnar deviation of the 3rd finger, Micrognathia, Mi...	OMIM:181180
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi...	OMIM:166740
Zechi-Ceide Syndrome	Short distal phalanx of finger, Cleft palate, Thin vermilion border, Short philtrum, Oligodontia,...	ORPHA:217017
Fatco Syndrome	Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis...	ORPHA:2492
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Metaphyseal cupping, Cleft palate, Depressed nasal bridge, Microm...	ORPHA:85166
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent teeth, Anterior tibial bowi...	OMIM:112350
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Short distal phalanx of finger, Joint stiffness, High, narrow palate, Cleft palate, Micrognathia,...	ORPHA:2516
Hypercalcemia, Infantile, 1	Infantile hypercalcemia	OMIM:143880
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Robinow Syndrome, Autosomal Dominant 2	Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed...	OMIM:616331
Mesomelic Dysplasia, Kantaputra Type	Clinodactyly of the 5th finger, Camptodactyly of finger, Synostosis of carpal bones, Abnormality ...	ORPHA:1836
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia	OMIM:616418
Dyggve-Melchior-Clausen Disease	Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th...	ORPHA:239
Thoracomelic Dysplasia	Short ribs, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Abnormal pelvic gird...	ORPHA:1803
Atelosteogenesis, Type Iii	Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Micrognathia, ...	OMIM:108721
Metatropic Dysplasia	Joint stiffness, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnormal metaphysis morph...	ORPHA:2635
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Cleft palate, Talon cusp, Brachydactyly, Syndactyly, Microdontia, Radioulnar s...	OMIM:605282
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Oculomaxillofacial Dysostosis	Cleft palate, Adducted thumb, Abnormality of the dentition, Camptodactyly of finger, Micrognathia...	ORPHA:1794
Achondrogenesis Type 2	Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short ribs, Hypopla...	ORPHA:93296
Orofaciodigital Syndrome Vi	High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ...	OMIM:277170
Distal Limb Deficiencies-Micrognathia Syndrome	High palate, Narrow mouth, Macrocephaly, Microretrognathia, Abnormal morphology of ulna, Cleft pa...	ORPHA:1307
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Intrau...	OMIM:210720
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Cleft palate, Micrognathia, Genu valgum, Abnormal epiphysis morphology, Joi...	ORPHA:250984
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Rosselli-Gulienetti Syndrome	Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Cutaneous syndactyly of toes, Microdontia, ...	OMIM:225000
Mesomelic Dysplasia, Nievergelt Type	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,...	ORPHA:2633
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Marshall Syndrome	Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Clinoda...	OMIM:154780
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i...	OMIM:300106
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Metaphyseal cupping, Short ribs, Depressed nasal bridge, Iliac crest serration, Micromelia, Hypop...	OMIM:613320
Thalidomide Embryopathy	Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ...	ORPHA:3312
Braddock-Carey Syndrome 2	Wide mouth, Bulbous nose, Cleft palate, Microcephaly, Clinodactyly, Pierre-Robin sequence	OMIM:619981
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Split foot, Microcephaly, Oral cleft, Widely-spaced maxillary cent...	OMIM:601349
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	High palate, Broad phalanx, Depressed nasal bridge, Micromelia, Short nose, Hip subluxation, Shor...	OMIM:271665
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei...	ORPHA:405
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	High palate, Macrocephaly, Slender finger, Cleft palate, Osteopenia, Abnormality of the dentition...	ORPHA:251028
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Cleft palate, Craniosynostosis, Micrognathia, Brachydactyly, Micromelia, Shor...	ORPHA:2145
Pfeiffer Syndrome Type 2	High palate, Anal atresia, Cleft palate, Tracheomalacia, Small hand, Intestinal malrotation, Broa...	ORPHA:93259
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma...	OMIM:619980
Lethal Kniest-Like Dysplasia	Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:2347
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness	Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, S...	OMIM:250420
Orofaciodigital Syndrome Type 4	Abnormality of the tongue, Cleft palate, Depressed nasal ridge, Short philtrum, Micromelia, Oral ...	ORPHA:2753
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge, 11 pairs of ribs, Rhi...	OMIM:250220
Hartsfield Syndrome	Cleft palate, Craniosynostosis, Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Non-mid...	ORPHA:2117
Kniest Dysplasia	Flexion contracture of finger, Macrocephaly, Cleft palate, Depressed nasal bridge, Dumbbell-shape...	ORPHA:485
Blepharonasofacial Malformation Syndrome	Underdeveloped nasal alae, Tooth agenesis, Cleft palate, Long philtrum, Wide nasal bridge, Wide n...	ORPHA:1252
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Mohr Syndrome	High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated tongue, Tongue nodu...	OMIM:252100
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypercalcemia, Hypermagnesemia	OMIM:600740
Tetraploidy	Convex nasal ridge, Cleft palate, Biparietal narrowing, Radial club hand, Short philtrum, Microgn...	ORPHA:3305
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia...	ORPHA:3035
Hypoglossia-Hypodactyly Syndrome	Short distal phalanx of finger, High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of th...	ORPHA:989
Spondylometaphyseal Dysplasia, Algerian Type	Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,...	OMIM:184253
Ulbright-Hodes Syndrome	Aplasia/Hypoplasia of the ulna, High palate, Narrow mouth, Severe intrauterine growth retardation...	ORPHA:3404
Oculofaciocardiodental Syndrome	Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham...	ORPHA:2712
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft palate, Hyposmia, Osteoporosis, Cleft lip, Clinodactyly, Anosmia	OMIM:614838
Thanatophoric Dysplasia, Type Ii	Metaphyseal irregularity, Small abnormally formed scapulae, Short ribs, Hypoplastic ilia, Flared ...	OMIM:187601
Thanatophoric Dysplasia, Type I	Metaphyseal irregularity, Small abnormally formed scapulae, Macrocephaly, Short ribs, Femoral bow...	OMIM:187600
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, High palate, Cleft palate, Everted lower lip vermilion, Dimple on...	ORPHA:1784
Fanconi Anemia, Complementation Group O	Anal atresia, Miscarriage, Absent thumb, Hypoplasia of the radius, Neonatal death, Death in infan...	OMIM:613390
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Velopharyngeal insufficiency, Clef...	OMIM:614701
Glass Syndrome	High palate, Narrow mouth, Bulbous nose, Talipes equinovarus, Cleft palate, Arachnodactyly, Micro...	OMIM:612313
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, High palate, Cleft palate, Postaxial polydactyly, Short ribs, Sho...	OMIM:614091
Cleidocranial Dysplasia	Macrocephaly, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping sh...	ORPHA:1452
Acrocraniofacial Dysostosis	Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Advanced eruption of teeth,...	ORPHA:949
Hypophosphatemic Rickets, X-Linked Dominant	Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida...	OMIM:307800
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Verloove Vanhorick-Brubakk Syndrome	Abnormality of femur morphology, Cleft palate, Micrognathia, Limb undergrowth, Abnormal metacarpa...	ORPHA:3429
Short Stature-Micrognathia Syndrome	High palate, Intrauterine growth retardation, 2-3 toe syndactyly, Cleft palate, Metaphyseal widen...	OMIM:617164
Acrocraniofacial Dysostosis	Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Micrognathia, Wide nose, Me...	OMIM:201050
Gillessen-Kaesbach-Nishimura Syndrome	Wide anterior fontanel, Ulnar deviation of the hand, Convex nasal ridge, Narrow greater sciatic n...	OMIM:263210
Crane-Heise Syndrome	Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Cleft palate, Abnormally os...	ORPHA:1512
Antley-Bixler Syndrome	Recurrent fractures, Joint stiffness, Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostos...	ORPHA:83
Fetal Hydantoin Syndrome	Short distal phalanx of finger, Wide mouth, Cleft palate, Everted lower lip vermilion, Depressed ...	ORPHA:1912
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Micrognathia, Broad nasal tip, M...	OMIM:239800
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Metaphyseal irregularity, Flared metaphysis, Microcephaly, Irregular epiphyses, Short femoral nec...	OMIM:610442
Glutamine Deficiency, Congenital	Flexion contracture, Thin vermilion border, Depressed nasal bridge, Micromelia, Neonatal death, C...	OMIM:610015
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Talipes equinovarus, Death in infancy, Short long bone	OMIM:618845
Acromelic Frontonasal Dysplasia	Wide mouth, Aplasia/Hypoplasia of the tibia, Median cleft palate, Talipes equinovarus, Broad nasa...	ORPHA:1827
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Cleft palate, Micrognathia, Camptodactyly of finger, Microcephaly, Bifid uvula, Submucous cleft h...	ORPHA:2521
Autosomal Dominant Spondylocostal Dysostosis	Macrocephaly, Cleft palate, Microcephaly, Spina bifida occulta, Missing ribs, Anteverted nares, I...	ORPHA:1797
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypophosphatemia, Hypercalcemia	OMIM:239200
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Arthrogryposis, Distal, Type 3	High palate, Overlapping toe, Decreased hip abduction, Talipes equinovarus, Cleft palate, Camptod...	OMIM:114300
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	OMIM:618440
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Depress...	OMIM:607597
Tibial Hemimelia	Absent tibia	OMIM:275220
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Narrow gre...	OMIM:224400
Geleophysic Dysplasia 1	Joint stiffness, Wide mouth, Coxa valga, Joint contracture of the hand, Osteopenia, Camptodactyly...	OMIM:231050
Larsen-Like Syndrome	Dental malocclusion, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus,...	OMIM:608545
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Bulbous nose, Agenesis of central incisor, Long upper lip, Cleft...	ORPHA:364577
Nager Syndrome	Joint stiffness, Wide mouth, Cleft palate, Hypoplasia of the radius, Micrognathia, Abnormal nasal...	ORPHA:245
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate, Absent radius	OMIM:179400
Opsismodysplasia	Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Macrocephaly, Depressed nasa...	OMIM:258480
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Talipes equinovarus, Cleft palate, Micrognathia, Proximal tibial...	OMIM:236680
Dyggve-Melchior-Clausen Disease	Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge...	OMIM:223800
Van Den Ende-Gupta Syndrome	High palate, Cleft palate, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Narrow foot,...	OMIM:600920
Pfeiffer Syndrome Type 3	High palate, Anal atresia, Cleft palate, Tracheomalacia, Small hand, Intestinal malrotation, Broa...	ORPHA:93260
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Metaphyseal irregularity, Delayed epiphyseal ossification, Tibial bowing, Bo...	OMIM:600081
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Depressed nasal bridge, Broad hallux, Genu valgum, Rhizomelia, Short long bone, M...	OMIM:618019
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Acetabular spurs, Macrocephaly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Shor...	OMIM:615503
Occipital Horn Syndrome	Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ...	ORPHA:198
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Metaphyseal irregularity, Delayed epiphyseal ossification, Subperiosteal bon...	OMIM:277440
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Andersen Cardiodysrhythmic Periodic Paralysis	High palate, Bulbous nose, Cleft palate, Small finger, Clinodactyly of the 5th finger, Micrognath...	OMIM:170390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of femur morphology, Anal atresia, Tooth agenesis, Narrow palate, Micrognathia, Abnor...	ORPHA:2063
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Arthrogryposis, Distal, Type 5D	Bulbous nose, Talipes equinovarus, Cleft palate, Adducted thumb, Micrognathia, Camptodactyly, Fur...	OMIM:615065
Fetal Alcohol Syndrome	Joint stiffness, Cleft palate, Biparietal narrowing, Micrognathia, Microcephaly, Microdontia, Sho...	ORPHA:1915
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Depressed nasal bridge, Congenital hip dislocation, Tapered finger, Genu valgum, Shor...	OMIM:616007
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia	OMIM:228940
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies	Cleft upper lip, Radial bowing, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Postaxial f...	OMIM:601027
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Genu valgum, Cleft palate	OMIM:614880
Limb-Mammary Syndrome	Joint contracture of the hand, Hypodontia, Split foot, Cleft palate, Syndactyly, Bifid uvula, Cam...	OMIM:603543
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Carpal synostosis, Advanced ossification of carpal bones, Epiphyseal dysplasia, Talipes equinovar...	OMIM:615349
Caffey Disease	Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobility	OMIM:114000
Multiple Osteochondromas	Abnormality of femur morphology, Limitation of knee mobility, Abnormality of fibula morphology, A...	ORPHA:321
Autosomal Recessive Omodysplasia	Abnormality of femur morphology, Abnormal metaphysis morphology, Craniosynostosis, Micrognathia, ...	ORPHA:93329
Osteopathia Striata-Cranial Sclerosis Syndrome	Macrocephaly, Large iliac wing, Increased bone mineral density, Cleft palate, High, narrow palate...	ORPHA:2780
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:36913
Wiedemann-Rautenstrauch Syndrome	Macrocephaly, Depressed nasal bridge, Delayed eruption of teeth, Long foot, Intrauterine growth r...	OMIM:264090
Isotretinoin Syndrome	Cleft palate, Micrognathia, Depressed nasal bridge, Spina bifida occulta, Biparietal narrowing	ORPHA:2305
Robinow Syndrome, Autosomal Dominant 1	High palate, Dental crowding, Macrocephaly, Triangular mouth, Depressed nasal bridge, Duplication...	OMIM:180700
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Cleft palate, Abnormality of the ankles, Oligodontia of primary teeth, Tarsal ...	ORPHA:2010
3Q29 Microduplication Syndrome	High palate, Ectopic anus, Macrocephaly, Cleft palate, Craniosynostosis, Camptodactyly of toe, Ab...	ORPHA:251038
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Tibial bowing, Femoral bowing, Microcephaly, Fibular bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Ectopic anus, Cleft palate, Non-midline cleft lip	ORPHA:2476
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Bulbous nose, Clinodactyly of the 5th finger, Tooth malposition, Depressed n...	ORPHA:2769
Patterson Pseudoleprechaunism Syndrome	Palmoplantar cutis laxa, Talipes valgus, Long foot, Irregular acetabular roof, Large hands, Genu ...	OMIM:169170
Frontometaphyseal Dysplasia 1	High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er...	OMIM:305620
Larsen Syndrome	Laryngotracheomalacia, Short distal phalanx of finger, Accessory carpal bones, Cleft palate, Cran...	ORPHA:503
Acrocallosal Syndrome	High palate, Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Short philtrum, Tapered fi...	OMIM:200990
Ellis-Van Creveld Syndrome	Cleft upper lip, Acetabular spurs, Abnormality of the alveolar ridges, Talipes equinovarus, Hypod...	OMIM:225500
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Ectrodactyly, Tooth agenesis, Cleft palate, Hyposmia, Osteopenia, Choanal atresi...	OMIM:147950
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Metaphyseal irregularity, Bowing of the legs, Metaphyseal wideni...	ORPHA:93352
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia	ORPHA:398063
Sweeney-Cox Syndrome	High palate, Anal atresia, Short clavicles, Narrow mouth, Wide anterior fontanel, Cleft palate, M...	OMIM:617746
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Metaphyseal irregularity, Delayed epiphyseal ossification, Subperiosteal bon...	OMIM:264700
Acute Adrenal Insufficiency	Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia	ORPHA:95409
Greenberg Dysplasia	Macrocephaly, Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge...	OMIM:215140
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar...	ORPHA:85167
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Wide anterior fontanel, Cleft palate, Tracheomalacia, Micrognathia, Depressed nasal bridge, Micro...	OMIM:217980
Aase-Smith Syndrome I	Talipes equinovarus, Slender finger, Cleft palate, Flexion contracture, Death in infancy, Open mouth	OMIM:147800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Malabsorption, Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Biparie...	ORPHA:935
Teebi-Shaltout Syndrome	Wide mouth, Narrow mouth, Ulnar deviation of the hand, Talipes equinovarus, High, narrow palate, ...	OMIM:272950
Phosphoribosylaminoimidazole Carboxylase Deficiency	Clinodactyly of the 5th finger, Talipes equinovarus, Tracheoesophageal fistula, Depressed nasal b...	OMIM:619859
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal atresia, Cleft palate, Shortening of all distal phalanges of the fingers, Broad nasal tip, M...	OMIM:614749
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, 11 pairs of ribs, Ge...	OMIM:271640
Moebius Syndrome	High palate, Absent hand, Clinodactyly of the 5th finger, Tooth agenesis, Abnormal morphology of ...	ORPHA:570
Trisomy 8Q	High palate, Joint stiffness, Cleft palate, Everted lower lip vermilion, Micrognathia, Camptodact...	ORPHA:1752
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	High palate, Bulbous nose, Cleft palate, Tented upper lip vermilion, Intrauterine growth retardat...	OMIM:608670
Contractures-Developmental Delay-Pierre Robin Syndrome	Overlapping toe, Abnormality of finger, Talipes equinovarus, High, narrow palate, Cleft palate, A...	ORPHA:436003
Raine Syndrome	High palate, Wide mouth, Cleft palate, Depressed nasal bridge, Micromelia, Microdontia, Short nos...	OMIM:259775
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Brachydactyly, Short long bone, Postaxial polydactyly	OMIM:615633
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Carey-Fineman-Ziter Syndrome	High palate, Talipes equinovarus, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, T...	ORPHA:1358
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Micrognath...	OMIM:259420
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Flexion contracture, Short femur, Microcephaly, Short humerus, Polydactyly, Oral cleft	ORPHA:17
Baller-Gerold Syndrome	High palate, Anal atresia, Malabsorption, Narrow mouth, Intrauterine growth retardation, Hand oli...	ORPHA:1225
Femoral-Facial Syndrome	Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Short nose, Short fifth metatarsal,...	OMIM:134780
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Tibial bowing, Convex nasal ridge, Limb undergrowth, Absent ossification of ...	OMIM:166210
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Pheochromocytoma	Hypercalcemia	OMIM:171300
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperuricemia	ORPHA:199299
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B

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