Gene Summary

Name:
glypican 6
Synonyms:
6720429C22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Gpc6tm2a(EUCOMM)Wtsi HOM Early adult 1.27×10-05
increased circulating calcium level Gpc6tm2a(EUCOMM)Wtsi HOM Early adult 6.46×10-05

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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

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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.

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

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

Disease Similarity of
phenotypes
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
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Cleft hard palate, Small epiphyses, Delayed... ORPHA:166016
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa... OMIM:118651
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Microcephaly, Ab... OMIM:612447
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, H... OMIM:249700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... OMIM:112910
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Boomerang Dysplasia
Fibular aplasia, Hypoplastic nasal septum, Hypoplastic iliac body, Neonatal death, Absent radius,... OMIM:112310
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel... OMIM:201170
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Orofaciodigital Syndrome Viii
Polydactyly, Bifid nasal tip, High palate, Cleft palate, Broad nasal tip, Syndactyly, Short tibia... OMIM:300484
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft of the upper lip, Bilateral cleft palate, Depressed nasal ridge, Tooth agenesis... ORPHA:2003
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ... OMIM:147891
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypoplasia, 2-3 to... OMIM:206920
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of the long... ORPHA:2632
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Eiken Syndrome
Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Orofaciodigital Syndrome Ix
Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Microcephaly, Hand pol... OMIM:258865
Femoral-Facial Syndrome
Abnormal fibula morphology, Short nose, Orofacial cleft, Abnormal pelvic girdle bone morphology, ... ORPHA:1988
Campomelic Dysplasia
Fibular hypoplasia, Macrocephaly, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheoma... ORPHA:140
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho... ORPHA:2639
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Pr... ORPHA:1788
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short long bone, Femoral bowing, Short ribs, Absent tibia, Intestinal malrotation, Cone-shaped ep... OMIM:613091
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Me... ORPHA:440354
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Orofaciodigital Syndrome X
Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Cleft palate, Short foot, Small hand OMIM:300261
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Relative macroce... OMIM:616300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Abno... OMIM:250460
Microcephaly-Micromelia Syndrome
Convex nasal ridge, Wide nose, Oligodactyly, Narrow mouth, Forearm undergrowth, Micromelia, Humer... OMIM:251230
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Wide nose, Abnormal nasal bone morph... ORPHA:521308
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Death in infancy, Broad thumb, Joint hypermobility, L... ORPHA:1106
Acromicric Dysplasia
Thick lower lip vermilion, Anteverted nares, Short long bone, Narrow mouth, Short metacarpal, Sho... OMIM:102370
Holoprosencephaly 4
Median cleft palate, Depressed nasal tip, Depressed nasal bridge, Absent nasal septal cartilage, ... OMIM:142946
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd... OMIM:258860
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Cleft palate, Mesomelic leg shor... OMIM:249710
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of... OMIM:607078
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Isolated Arrhinia
Tessier cleft, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal s... ORPHA:1134
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short nose, Microcephaly, Flared metaphysis, Anteverted nares, Short ribs, Decreased ... OMIM:616897
Atelosteogenesis Type Ii
Wide nasal base, Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short met... ORPHA:56304
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Synda... ORPHA:294975
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Amelia, Cleft upper lip, Foot oligodactyly, Short femur, B... OMIM:601357
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Holoprosencephaly 7
Short nose, Midline defect of the nose, Macrocephaly, Solitary median maxillary central incisor, ... OMIM:610828
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Limitation ... ORPHA:93308
Chondrodysplasia With Joint Dislocations, Gpapp Type
Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ... OMIM:614078
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Microcephaly, Short distal phalanx... OMIM:302950
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Spondyloepiphyseal Dysplasia Congenita
Increased head circumference, Limited elbow movement, Reduced bone mineral density, Genu valgum, ... ORPHA:94068
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Sho... OMIM:186500
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Knee osteoarthriti... ORPHA:566943
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif... ORPHA:750
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypoplastic iliac win... OMIM:114290
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ... ORPHA:3320
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Short philtrum, Finger syndact... ORPHA:958
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb metaphyseal... OMIM:618728
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Otoonychoperoneal Syndrome
Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Knee flexion contra... OMIM:259780
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W... OMIM:617925
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Inc... ORPHA:3144
Hypochondroplasia
Limited elbow extension, Macrocephaly, Flared metaphysis, Short long bone, Aplasia/hypoplasia of ... OMIM:146000
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Macrocephaly, Rhizomelia, Ulnar bowing, Fl... OMIM:100800
Laurin-Sandrow Syndrome
Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo... ORPHA:2378
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Carey-Fineman-Ziter Syndrome 2
Pes cavus, High, narrow palate, Increased overbite, Abnormal nasal septum morphology, Anteverted ... OMIM:619941
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Talipes equinovarus, Tib... OMIM:211350
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic nasal septum, Anteverted nares... ORPHA:40366
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Intestinal malrotation, Arachnodactyly, Paranasal si... OMIM:300373
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Wide nasal base, Femoral bowing, Short long bone, Clubbing, Tibial bo... OMIM:601559
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis, Broad thumb, Ha... OMIM:612961
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Anteverted nares, Enlarged epiphyses, Premature osteoarthritis, Epiphyseal dysplasia, Pierre-Robi... OMIM:184840
Kinsship Syndrome
Dislocated radial head, Death in infancy, Microcephaly, Mesomelia, Wide mouth, Primary microcepha... OMIM:619297
Phocomelia, Schinzel Type
Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intrauterine growth retardati... ORPHA:2879
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Talipes equinovarus, Short metacarpal, Hypoplasia of the femoral ... OMIM:226900
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Patellar hypoplasia, Talipes equinovarus, Absent tibia, Median cleft palate, Bilatera... OMIM:119800
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pelviscapular Dysplasia
Macrocephaly, Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradi... ORPHA:93333
Omodysplasia 1
Limited elbow extension, Short nose, Limited knee flexion/extension, Limited elbow flexion/extens... OMIM:258315
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Macrocephaly, Short greater sciatic notch, Wide anterior fontanel... ORPHA:1860
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Intrauterine growth retardation, Ar... OMIM:616570
Polyrrhinia
Abnormal nasal bone morphology, Orofacial cleft, Abnormal external nose morphology, Supernumerary... ORPHA:141091
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Short long... ORPHA:1190
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... ORPHA:90650
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Talipes equinovarus, Hypoplastic iliac wing, Short tibia... OMIM:620076
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Diastrophic Dysplasia
Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Short long bone, Hip contractur... OMIM:222600
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Abnormal epiphysis morphology, Oral synechia, Joint... ORPHA:1388
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Microcephaly, Arachnodactyly, Cleft palate, Broad nasal tip, Large hands, Pes planus, C... OMIM:300263
Zechi-Ceide Syndrome
Long foot, Short metatarsal, Wide nose, Sandal gap, Oligodontia, Cleft upper lip, Cleft palate, S... OMIM:612916
Stuve-Wiedemann Syndrome 2
Stillbirth, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolescence, Neona... OMIM:619751
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Short humerus, ... OMIM:218330
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, High palate, Camptodactyly, Prenatal death, Micrognathia, N... OMIM:618393
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Pes planus, Genu valgum, Small epiphyses, Short long bone, High palate, ... OMIM:618363
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:184260
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing,... OMIM:602080
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Abnormal hip bone morphology, Abnormal met... ORPHA:2631
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, C... OMIM:147750
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Aplasia/hypoplas... ORPHA:356961
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Aase-Smith Syndrome
Abnormal hip bone morphology, Slender finger, Joint stiffness, Camptodactyly of finger, Cleft pal... ORPHA:916
Otopalatodigital Syndrome Type 2
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ... ORPHA:90652
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Wide anterior fontanel, Limitation of joint mobility, High palat... ORPHA:3098
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra... ORPHA:56305
Gordon Syndrome
Clinodactyly of the 5th finger, Talipes, Finger syndactyly, High palate, Limitation of joint mobi... ORPHA:376
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Wide nose, Short philtrum, Progressive microcep... OMIM:607143
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Death in childhood, Tibial bowing, Relative ... OMIM:613848
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Open bite, Depressed nasal ridge, Microdontia, Tooth age... ORPHA:1248
Acrocephalopolydactyly
Short nose, Genu recurvatum, Short long bone, Depressed nasal ridge, Limb undergrowth, Brachydactyly ORPHA:221054
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion ORPHA:2015
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate, Bulbous nose, Wide nasal... OMIM:612913
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic n... OMIM:256050
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Death in infancy, Microcephaly, Arachnodactyly, Micrognathia, Cleft palate, Bulbous... ORPHA:93946
Sponastrime Dysplasia
Short long bone, Relative macrocephaly, Short dental root, Microdontia, Aplasia of the nasal bone... ORPHA:93357
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Cleft palate, Abnormal morphology of ulna, A... ORPHA:971
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Narrow palate, Elbow flexion contracture, Split... OMIM:200980
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Long philtrum, High palate, Everted lower lip vermilion, Finger joint contracture, Depressed nasa... OMIM:620494
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Recurrent patella... OMIM:216800
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Catel-Manzke Syndrome
Low insertion of columella, Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Sh... OMIM:616145
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Death in childhood, Anteverted nares, Short long bone, Short ribs, Coarse metaphyseal... OMIM:618961
Pallister-Hall-Like Syndrome
Short nose, Macrocephaly, Short ribs, Postaxial hand polydactyly, Micromelia, Microcephaly, Death... OMIM:241800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
2Q32Q33 Microdeletion Syndrome
Convex nasal ridge, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Antever... ORPHA:251019
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Desbuquois Dysplasia 2
Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Knee dislocation, Relat... OMIM:615777
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... ORPHA:2557
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Pos... OMIM:304120
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Short long bone, Glossoptosis, Knee dislocation, Cleft palate, Pierre-Robin sequ... OMIM:620269
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy... OMIM:251450
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs... OMIM:274000
Schneckenbecken Dysplasia
Short nose, Stillbirth, Macrocephaly, Snail-like ilia, Short long bone, Flat acetabular roof, Sho... OMIM:269250
Premature Aging Syndrome, Penttinen Type
Tibial bowing, Aplasia of the nasal bone, Flexion contracture of finger, Short distal phalanx of ... OMIM:601812
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Hyperparathyroidism, Transient Neonatal
Osteopenia, Anteverted nares, Femoral bowing, Fractured rib, Short long bone, Metaphyseal spurs, ... OMIM:618188
Holoprosencephaly 2
Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Median cleft palate... OMIM:157170
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... ORPHA:2839
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Fibrochondrogenesis 2
Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short long bone, Short... OMIM:614524
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Anteverted nares, Increased overbite, Camptodactyly... OMIM:618761
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Depress... OMIM:300244
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Death in childhood, Wide distal femoral metaphysis, Wide nose, Delayed epiphyseal oss... OMIM:613320
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... OMIM:177170
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Micrognathia, Cleft palate, Toe syndactyly OMIM:183700
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Wide nasal bridge, Epiphyseal stippling OMIM:614870
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Glossoptosis, Abnormally ossified vertebrae, Short metacarpal, Bifid u... ORPHA:1427
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Large tarsal bones, Flared metaphysis, Anteverted nares, Short long bone, Aplasia/Hypoplasia of t... OMIM:215150
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Xylt1-Cdg
Long philtrum, Flared metaphysis, Short clavicles, Short long bone, Relative macrocephaly, Broad ... ORPHA:370930
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Long philtru... OMIM:190351
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Teebi Hypertelorism Syndrome 2
Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, Hi... OMIM:619736
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Long nose, 11 pairs of ribs, Microcephaly, Bicoronal synostosis, Tracheobronchomalacia, Dental cr... OMIM:619184
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela... ORPHA:93346
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Jackson-Weiss Syndrome
Convex nasal ridge, Abnormal fibula morphology, Abnormal palate morphology, Short metatarsal, 2-3... ORPHA:1540
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Abnormal metatarsal morphology, Anteverted... ORPHA:163654
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Macrocephaly, Proximal placement of thumb, Abnormal... ORPHA:628
Hypophosphatasia
Hypercalcemia ORPHA:436
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Absent metacarpal epiphyses, Hy... OMIM:610797
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth, Decreased fibular diameter, ... OMIM:619489
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short nose, Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia,... ORPHA:444077
Temple Syndrome
Wide nose, Short philtrum, Anteverted nares, Relative macrocephaly, High palate, Intrauterine gro... OMIM:616222
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Hypoplastic iliac wing, Short long bone, Short metacarpal, Wide mouth, Long philtrum, Rhizo-meso-... OMIM:611717
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Abnormal bone ossification, Long philtrum, Abnormal femoral neck/head morphology, Inc... ORPHA:163649
Kniest Dysplasia
Rhizomelia, Tracheomalacia, Delayed epiphyseal ossification, Splayed epiphyses, Flared metaphysis... OMIM:156550
Acromelic Frontonasal Dysostosis
Midline defect of the nose, Patellar hypoplasia, Talipes equinovarus, Midline facial cleft, Bifid... OMIM:603671
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Macrocephaly, Intestinal malrotation, Microcephaly, Wide mouth, Joint hypermobility,... OMIM:617798
Rapadilino Syndrome
High, narrow palate, Slender nose, Aplasia/Hypoplasia of the patella, High palate, Cleft palate, ... OMIM:266280
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Macrocep... ORPHA:15
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Macrocephaly, Anteverted nares, Congenital pyloric atresia, Neonatal death, Flexion contracture, ... OMIM:612138
Stickler Syndrome Type 1
Short nose, Long philtrum, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology... ORPHA:90653
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Microtriplication 11Q24.1
Genu valgum, Clinodactyly of the 5th finger, Wide nose, Short philtrum, Limitation of joint mobil... ORPHA:289522
17Q11.2 Microduplication Syndrome
Thin vermilion border, Deviated nasal septum, Abnormal dental enamel morphology, Thick nasal alae... ORPHA:139474
Oculomaxillofacial Dysostosis
Abnormality of the nose, Tessier cleft, Abnormality of the dentition, Abnormality of the humerus,... ORPHA:1794
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Bartsocas-Papas Syndrome
Short nose, Talipes, Finger syndactyly, Narrow mouth, Synostosis of joints, Microcephaly, Aplasia... ORPHA:1234
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Aminopterin Syndrome Sine Aminopterin
Macrocephaly, Oligodontia, High palate, Microcephaly, Arachnodactyly, Rudimentary postaxial polyd... OMIM:600325
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Microcephaly, Shortening of all distal phalanges of the fingers, Cleft palate, Broad ... OMIM:615716
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hypoplastic pubic bone, Miscarriage, Short long bone, Limitation of joint mo... ORPHA:1865
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Cleft hard palate, Talipes, Delay... OMIM:300990
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Miscarri... ORPHA:96334
Dysspondyloenchondromatosis
Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Metaphyseal enchon... ORPHA:85198
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Short philtrum, Anteverted nares, High palate, Intrauterine growth retardation, Narrow... ORPHA:96184
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, High palate, Forearm undergrowth, Micr... ORPHA:314795
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post... OMIM:263520
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Microcephaly, Short palm, Carious teeth, Cleft palate, Micrognathia, Brachy... OMIM:101805
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Joint stiffness, Microcephaly, Micrognathia, Cleft palate, Short distal phal... ORPHA:2516
Say Syndrome
Ulnar deviation of the 3rd finger, Microcephaly, Micrognathia, Cleft palate, Short distal phalanx... OMIM:181180
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi... ORPHA:85166
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Lateral femoral bowing, Squared iliac bones, Delayed erup... OMIM:112350
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Broad thumb, Mesomelia, Wide mouth, Long philtrum, Short distal phalanx of finge... OMIM:616331
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Zechi-Ceide Syndrome
Thin vermilion border, Long foot, Short metatarsal, Wide nose, Sandal gap, Short philtrum, Oligod... ORPHA:217017
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentiti... ORPHA:2095
6Q25 Microdeletion Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, High palate, Microcephaly, Camptodactyly of f... ORPHA:251056
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl... OMIM:271665
Laron Syndrome
Short long bone, Limb undergrowth OMIM:262500
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Microcephaly, Underdeveloped nasal alae OMIM:601355
Frontonasal Dysplasia 2
Widely spaced teeth, Cleft ala nasi, Conical tooth, Anteverted nares, Bifid nasal tip, Depressed ... OMIM:613451
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Decreased cranial base ossification, Macrocephaly, Rhizomelia, Severe limb shortening... OMIM:151210
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... ORPHA:93296
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Microdontia, Talon cusp,... OMIM:605282
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Halberd-shaped pelvis, Abnormal e... ORPHA:2635
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Macrocephaly, Sandal gap, Tapered finger, Everted lower lip vermilion, Narrow mouth, Microcephaly... OMIM:618089
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Hypoplastic iliac wing, Sh... OMIM:200610
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Dumbbell-... ORPHA:1836
Aarskog-Scott Syndrome
Everted lower lip vermilion, Long philtrum, Joint hypermobility, Anteverted nares, Abnormality of... ORPHA:915
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate OMIM:236110
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Distal Deletion 10P
Clinodactyly of the 5th finger, Non-midline cleft of the upper lip, Ectopic anus, Anal atresia, J... ORPHA:1580
Autosomal Recessive Stickler Syndrome
Genu valgum, Abnormal epiphysis morphology, Epiphyseal dysplasia, Micrognathia, Cleft palate, Joi... ORPHA:250984
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Macrocephaly, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb,... ORPHA:1307
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Braddock-Carey Syndrome 2
Microcephaly, Cleft palate, Pierre-Robin sequence, Wide mouth, Bulbous nose, Clinodactyly OMIM:619981
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Zimmermann-Laband Syndrome 2
Gingival overgrowth, Bifid nasal tip, Prominent nasal septum, Thick vermilion border, Macroglossi... OMIM:616455
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Microdontia, Microcephaly, Short distal phalanx of finger,... OMIM:210720
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho... OMIM:250420
Pfeiffer Syndrome Type 2
Short nose, Deviation of the thumb, Tracheomalacia, Short hallux, Finger syndactyly, Limitation o... ORPHA:93259
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Microphthalmia, Syndromic 8
Orofacial cleft, Split foot, Cleft upper lip, Microcephaly, Cleft palate, Widely-spaced maxillary... OMIM:601349
Marshall Syndrome
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... OMIM:154780
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, 2-3 toe syndactyly, Narrow mouth, Microcephaly, Cleft upper lip, Micrognathia, Cle... OMIM:239800
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ... ORPHA:989
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ... OMIM:210710
Dyssegmental Dysplasia, Silverman-Handmaker Type
Short long bone, Narrow mouth, Bowing of the long bones, Micromelia, Microcephaly, Micrognathia, ... OMIM:224410
Hartsfield Syndrome
Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, I... ORPHA:2117
Blepharonasofacial Malformation Syndrome
Long philtrum, Wide nose, Finger syndactyly, Non-midline cleft of the upper lip, Tooth agenesis, ... ORPHA:1252
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Long ph... ORPHA:166100
Mesomelic Dysplasia, Nievergelt Type
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodactyly of the 5th... ORPHA:2633
Braddock-Carey Syndrome 1
Talipes equinovarus, Anteverted nares, Everted lower lip vermilion, Camptodactyly, Microcephaly, ... OMIM:619980
Seckel Syndrome 5
Clinodactyly of the 5th finger, 11 pairs of ribs, Oligodontia, Selective tooth agenesis, High pal... OMIM:613823
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Short nose, Small epiphyses, Femoral... OMIM:616723
Tetraploidy
Radial club hand, Short philtrum, Biparietal narrowing, Microcephaly, Micrognathia, Cleft palate,... ORPHA:3305
Acrofrontofacionasal Dysostosis
Dimple on nasal tip, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion... ORPHA:1784
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Flexion contrac... ORPHA:485
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Finger syndactyly, Split hand, Micromelia, Micrognathia, Cleft pa... ORPHA:2145
Orofaciodigital Syndrome Ii
Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, P... OMIM:252100
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Broad proximal phalanges of the hand, Choanal atresia, Depres... OMIM:607597
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Stickler Syndrome, Type Ii
High, narrow palate, Anteverted nares, Arachnodactyly, Long fingers, Bifid uvula, Cleft palate, P... OMIM:604841
Verheij Syndrome
Short nose, Long philtrum, Anteverted nares, Intrauterine growth retardation, Microcephaly, Thin ... OMIM:615583
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Relative macrocephaly, Microdontia,... ORPHA:251028
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Congenital Disorder Of Glycosylation, Type Iig
Progressive microcephaly, Short long bone, Glossoptosis, Microcephaly, Broad femoral neck, Long p... OMIM:611209
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Deviated nasal septum, Tooth malposition, Camptodactyly, Microcephaly, Clinodactyly, Prominent na... OMIM:619576
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Macrocephaly, Abnormal cartilage matrix, Flared metaphysis, Wide ant... ORPHA:2347
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Talipes equinovarus, Bifid nasal tip, Thick nasal alae, Median cleft palate,... ORPHA:1827
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Abnormal epiphysis morphology, Abnormal metacarpal mo... ORPHA:1452
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Cleft palate, Broad nasal tip, Neonatal death, Wide nasal b... OMIM:615524
Thanatophoric Dysplasia, Type I
Macrocephaly, Short greater sciatic notch, Flared metaphysis, Short long bone, Femoral bowing, Bo... OMIM:187600
Orofaciodigital Syndrome Type 4
Abnormal oral frenulum morphology, Microcephaly, Bifid uvula, Intrauterine growth retardation, Ge... ORPHA:2753
Oculoauriculofrontonasal Syndrome
Macrocephaly, Wide nose, Bifid nasal tip, Narrow mouth, Microcephaly, Micrognathia, Cleft palate,... ORPHA:398156
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Flared iliac wing, Broad thumb, Microcephaly, Short distal phalanx ... ORPHA:949
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Wide anterior fontanel, Short long bone, Decreased skull ossificati... OMIM:263210
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Thin vermilion border, Talipes equinovarus, Long upper... ORPHA:3404
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Cleft lip, Clinodactyly OMIM:614838
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Bifid nasal tip, Flexion contracture of the 2nd toe, F... ORPHA:2712
Joubert Syndrome 18
Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft palate, Lobulated tongue, T... OMIM:614815
Ichthyosis, Congenital, Autosomal Recessive 4B
Short finger, Neonatal death, Everted lower lip vermilion, Death in infancy OMIM:242500
Glass Syndrome
Long nose, Dental crowding, Generalized osteoporosis, Arachnodactyly, Microcephaly, Long philtrum... OMIM:612313
Crane-Heise Syndrome
Talipes equinovarus, Finger syndactyly, Anteverted nares, Decreased skull ossification, Abnormall... ORPHA:1512
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Short long bone, Talipes equinovarus, Vertebral fusion OMIM:618845
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Thick lower lip vermilion, Irregular epiphyses, Small epiphyses, Metaphys... OMIM:610442
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Micromelia, Short uvula, Short lingual frenulum, Short long bone, Flat acetabular ro... OMIM:614091
Antley-Bixler Syndrome
Short nose, Talipes, Anteverted nares, Femoral bowing, Narrow mouth, Choanal atresia, Joint stiff... ORPHA:83
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Anteverted nare... OMIM:614701
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Short long bone, Limitation of joint mobilit... OMIM:224400
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Fetal Hydantoin Syndrome
Short nose, Triphalangeal thumb, Everted lower lip vermilion, Depressed nasal ridge, Microcephaly... ORPHA:1912
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Arthrogryposis, Distal, Type 5D
Hypermobility of distal interphalangeal joints, Limited elbow movement, Adducted thumb, Anteverte... OMIM:615065
Nager Syndrome
Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Aplasia/Hypoplasia of ... ORPHA:245
Pfeiffer Syndrome Type 3
Short nose, Tracheomalacia, Short hallux, Finger syndactyly, Limitation of joint mobility, Choana... ORPHA:93260
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Long philtrum, Intrauterine growth retardation, Joint hypermobility, Short 5t... ORPHA:508488
Maternal Phenylketonuria
Long philtrum, Deviated nasal septum, Esophageal atresia, Anteverted nares, High palate, Microcep... ORPHA:2209
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Burn-Mckeown Syndrome
Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt... OMIM:608572
Tibial Hemimelia
Absent tibia OMIM:275220
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Anal atresia, Death in infanc... OMIM:613390
Meckel Syndrome, Type 8
Polydactyly, Short nose, Depressed nasal ridge, Microcephaly, Cleft upper lip, Cleft palate, Tali... OMIM:613885
Larsen-Like Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Wide anterior fontanel, Radial deviation of the 4th... OMIM:608545
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Split hand, Camptodactyly, Cleft palate, Microretrognathia OMIM:246560
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped... OMIM:307800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Relative macrocephaly, Metaphyseal irregularity, Joint hypermobi... OMIM:618019
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Genu valgum, Anosmia, Osteoporosis, Cleft palate OMIM:614880
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Microcephaly, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft h... ORPHA:2521
Autosomal Dominant Spondylocostal Dysostosis
Macrocephaly, Spina bifida occulta, Anteverted nares, Missing ribs, Microcephaly, Cleft palate, I... ORPHA:1797
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exa... ORPHA:364577
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Opsismodysplasia
Short nose, Long philtrum, Macrocephaly, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone,... OMIM:258480
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower l... OMIM:600920
Arthrogryposis, Distal, Type 3
High palate, Ulnar deviation of the hand or of fingers of the hand, Decreased hip abduction, Cong... OMIM:114300
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Microcepha... OMIM:170390
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Thin vermilion border, Delayed epiphyseal ossification, Flared meta... OMIM:602557
Hydrolethalus Syndrome 1
Stillbirth, Midline defect of the nose, Talipes equinovarus, Upper limb undergrowth, Postaxial ha... OMIM:236680
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Long phil... ORPHA:198
Lethal Congenital Contracture Syndrome 10
Convex nasal ridge, Long philtrum, Narrow palate, Stiff neck, Femoral bowing, Short long bone, Hi... OMIM:617022
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Macrocephaly, Short long bone, Femoral bowing, Short ribs, Acetabular spurs... OMIM:615503
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal fibula morphology, Abnormal palate morphology, Abnormal femur morphology,... ORPHA:2063
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short long bone, Metaphyseal irregularity, Long philtrum, Joint hypermobility, Hip dislocation, D... OMIM:616007
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ... OMIM:277440
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ... OMIM:141400
Fetal Alcohol Syndrome
Short nose, Anteverted nares, Non-midline cleft of the upper lip, Microdontia, Biparietal narrowi... ORPHA:1915
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... OMIM:603543
Multiple Osteochondromas
Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Deformed forearm ... ORPHA:321
Isotretinoin Syndrome
Spina bifida occulta, Biparietal narrowing, Micrognathia, Cleft palate, Depressed nasal bridge ORPHA:2305
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate, Joint... OMIM:602196
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Coffin-Lowry Syndrome
Short metacarpal, Everted lower lip vermilion, Microcephaly, Thick nasal septum, Coxa valga, Narr... OMIM:303600
Caffey Disease
Joint hypermobility, Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones OMIM:114000
3Q29 Microduplication Syndrome
Macrocephaly, Sandal gap, Ectopic anus, High palate, Abnormality of the dentition, Biparietal nar... ORPHA:251038
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, High, narrow palate, Macrocephaly, Spina bifida oc... ORPHA:2780
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Generalized bone demineralization, Delayed epiphyseal ossification, Flared me... ORPHA:93352
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Secondary microcephaly, Thin vermilion border, Death in childhood, Anteverted nares, Protruding t... OMIM:612938
Wiedemann-Rautenstrauch Syndrome
Narrow nasal ridge, Short humerus, Long philtrum, Intrauterine growth retardation, Long toe, Clin... OMIM:264090
Greenberg Dysplasia
Short long bone, Short ribs, Decreased skull ossification, Short metacarpal, Multiple prenatal fr... OMIM:215140
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Robinow Syndrome, Autosomal Dominant 1
Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bone, Broad thumb... OMIM:180700
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Choanal atresia, Devia... ORPHA:1104
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the ankle, Cleft palate, Oligodontia of primary teeth, Carpal s... ORPHA:2010
Larsen Syndrome
Broad distal phalanx of finger, Finger syndactyly, Laryngotracheomalacia, Abnormal epiphysis morp... ORPHA:503
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Fibular bowing, Tibial bowing, Femoral bowing, Microcephaly, Metaphyseal chondrodysplasia, Aplasi... ORPHA:85165
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Abnormal columella morphology, Talipes equinovarus, Abnormal finger morpholo... ORPHA:436003
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Long nose, Clinodactyly of the 5th finger, Tooth malposition, Ap... ORPHA:2769
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Microcephaly, Shortening of all d... OMIM:614749
Geleophysic Dysplasia 1
Osteopenia, Short nose, Anteverted nares, Short long bone, Wrist flexion contracture, Short foot,... OMIM:231050
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... ORPHA:85167
Vexas Syndrome
Chondritis of pinna, Arthritis, Nasal chondritis OMIM:301054
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ... OMIM:166210
Aase-Smith Syndrome I
Slender finger, Death in infancy, Cleft palate, Flexion contracture, Open mouth, Talipes equinovarus OMIM:147800
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Proximal placement of thumb, Tracheomalacia, Wide anterior fontanel, Anteverted nares... OMIM:217980
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic iliac wing, Abnormal alv... OMIM:225500
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid distal phalanx of the thumb... OMIM:200990
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microcephaly, Long phi... OMIM:608670
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, High, narrow palate, Talipes equinovarus, Oligodontia, Narr... OMIM:272950
Chondrodysplasia Punctata, Autosomal Dominant
Epiphyseal stippling, Hip contracture, Knee flexion contracture, Hypoplasia of the nasal bone, Ta... OMIM:118650
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Hyposmia, Anosmia, Ectrodactyly, Choanal atresia, Tooth agenesis, Cleft upper lip, Cl... OMIM:147950
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia of the radius ORPHA:2476
Acute Adrenal Insufficiency