Gene Summary

Name:
3'(2'), 5'-bisphosphate nucleotidase 2
Synonyms:
gPAPP,  1110001C20Rik,  Impad1,  Jaws

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Bpnt2tm1a(KOMP)Wtsi HET Early adult 9.21×10-06
increased body weight Bpnt2tm1a(KOMP)Wtsi HET   Early adult 2.67×10-05
preweaning lethality, complete penetrance Bpnt2tm1a(KOMP)Wtsi HOM   Early adult 0.00

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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

View all 173 images

Human diseases caused by Bpnt2 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 Bpnt2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... OMIM:614078

The table below shows human diseases predicted to be associated to Bpnt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Micrognathia, Narrow m... OMIM:227270
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... OMIM:612447
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Anteverted nares, Dea... OMIM:618961
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micrognathia, Bell-... OMIM:614524
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c... ORPHA:1972
Achondrogenesis, Type Ia
Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral metaphysis morphology, Severe li... OMIM:200600
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop... OMIM:151210
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... OMIM:187601
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Depressed nasal bridge, Micromelia, Thoraci... OMIM:617895
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tarsal ossification... OMIM:269250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Narrow chest, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Sh... OMIM:215045
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow chest, Micromel... ORPHA:85166
Mietens-Weber Syndrome
Elbow flexion contracture, Narrow nose, Dislocated radial head, Forearm undergrowth, Absent proxi... OMIM:249600
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... ORPHA:2831
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro... OMIM:228520
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphal... OMIM:186500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Narrow chest, Micro... OMIM:613320
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Thoracic Dysostosis, Isolated
Pectus excavatum, Recurrent respiratory infections, Bell-shaped thorax, Short ribs OMIM:187750
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... ORPHA:79106
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel... ORPHA:440354
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Kyphomelic Dysplasia
Narrow chest, Micromelia, Short thorax, Micrognathia, Undulate ribs, Bowing of the long bones, Mi... ORPHA:1801
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Limited knee flexion/extension, Short tibia, Structural foot d... ORPHA:93323
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... OMIM:108720
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Narrow ... OMIM:201170
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Abnormal thorax morphology, Ulnar deviated club h... OMIM:164900
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnor... ORPHA:1842
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Dea... OMIM:241800
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... OMIM:249710
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic ilia, Pectus carinatum, Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pub... OMIM:613330
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongu... OMIM:613091
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis... OMIM:271700
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal uln... OMIM:277150
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Hypoplasia of t... ORPHA:2249
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morpho... ORPHA:2021
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum OMIM:618155
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met... OMIM:187600
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short ... ORPHA:93328
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Micromelia, Delayed pubic bone ossification, Short ribs, Delayed ... ORPHA:93296
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Aplasia/hypoplasia involving bones of the upper limbs, Short humerus, Hyp... ORPHA:75508
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Be... ORPHA:56304
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Metaphyseal cupping, Short humerus, Thoracic scoliosis, Talipes equinov... OMIM:616716
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... OMIM:173800
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal... OMIM:611263
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Short foot, Cleft palate OMIM:300261
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... ORPHA:1856
Achondroplasia
Depressed nasal bridge, Rhizomelia, Pulmonary hypoplasia, Radial bowing, Flared metaphysis, Thora... OMIM:100800
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Aspiration pneumonia, Respiratory distress, Micrognathia, Dyspnea ORPHA:141152
Seckel Syndrome 4
Steep acetabular roof, Underdeveloped nasal alae, 11 pairs of ribs OMIM:613676
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ... OMIM:258850
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Kyphomelic Dysplasia
Depressed nasal bridge, Radial bowing, Flared metaphysis, Micromelia, Thoracic hypoplasia, Dumbbe... OMIM:211350
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Short ribs, Stillbirth OMIM:600972
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... OMIM:602471
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,... OMIM:206920
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M... OMIM:258860
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... ORPHA:174
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... ORPHA:1277
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2256
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Pulmonary hypoplasia, Narrow chest, Microme... OMIM:614091
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Camptodactyly,... OMIM:618393
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... OMIM:210720
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Micrognathia, Absent frontal sinuses, Diaphyseal undertubu... OMIM:224300
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... ORPHA:2557
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Irregular chondrocostal junctions... OMIM:250420
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals OMIM:618724
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Atelosteogenesis, Type Ii
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... OMIM:256050
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... OMIM:271665
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, High palate, Mesomeli... OMIM:268305
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot, Short nose OMIM:300577
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Cleft lip, Hama... OMIM:616300
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Narrow chest, Flared metaphysis, Abnormal cartilage morphology, Broad long bone... ORPHA:2347
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Odontochondrodysplasia
Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Resp... ORPHA:166272
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly, Upper limb phocomelia, Sti... ORPHA:294975
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Irregular epiph... OMIM:607326
Bent Bone Dysplasia Syndrome 2
Thin ribs, Depressed nasal bridge, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hyp... OMIM:620076
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizom... OMIM:300863
3M Syndrome
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Short t... ORPHA:2616
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Long philtrum, Rhizomelic arm shortening, Micrognathia,... OMIM:164745
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado... OMIM:619751
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Short ribs, Fibular hypoplasia,... ORPHA:3144
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb under... ORPHA:1423
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Micrognathia, Barrel-shaped chest, Neonatal death, Dia... OMIM:215140
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Pulmonary hypoplasia, Thoracic hypoplasia, Flared metaphysis, Decreased fibula... OMIM:616897
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Elbow dislocation, Ol... ORPHA:3258
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Tarp Syndrome
Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Single transverse palmar crease,... OMIM:311900
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Thick nasal alae, Micrognathia, Hypoplasia of the ulna, Wide nose ORPHA:357175
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Bilateral clef... OMIM:601357
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Micromelia, Broad long b... ORPHA:1865
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Pulmonary hypoplasia, Narrow chest, Lateral clavicle hook, Preaxial polyd... OMIM:615503
Three M Syndrome 1
Short 5th finger, Depressed nasal bridge, Slender long bone, Anteverted nares, Hypoplastic pelvis... OMIM:273750
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... OMIM:602557
Otoonychoperoneal Syndrome
Ankle flexion contracture, Hip contracture, Knee flexion contracture, Straight clavicles, Aplasia... OMIM:259780
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Seckel Syndrome 1
Ivory epiphyses, Hip dislocation, Dental malocclusion, Sandal gap, Selective tooth agenesis, Hypo... OMIM:210600
Adenylosuccinate Lyase Deficiency
Flat occiput, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Prominent ... ORPHA:46
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, ... ORPHA:3320
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Thick nasal alae, Micrognathia, Hypoplasia of the ulna, Wide nose OMIM:615162
Blomstrand Lethal Chondrodysplasia
Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morphology, Broad clavicle... ORPHA:50945
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu... OMIM:251230
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sandal gap, Short ... OMIM:607143
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... ORPHA:166002
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of tongue, Thora... ORPHA:2752
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,... OMIM:617866
Hypophosphatasia, Infantile
Metaphyseal cupping, Rachitic rosary, Micromelia, Apnea, Death in infancy, Short ribs, Stillbirth... OMIM:241500
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Anteverted nares, Epiphyseal stippling, Micrognathi... OMIM:619135
Ulbright-Hodes Syndrome
Thin ribs, Depressed nasal bridge, Pulmonary hypoplasia, Abnormal forearm bone morphology, Respir... ORPHA:3404
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax ORPHA:66637
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Short foot, Short met... OMIM:166250
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Hor... OMIM:200610
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Joint dislocation, Cartilage destruction ORPHA:2380
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... OMIM:618022
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Brachydactyly, Metacarpal synostosis ORPHA:35099
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Brachydacty... OMIM:615630
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Short femoral neck, Carpal bone hypoplasia, Hypoplasia of the ulna, Dislocated radial ... OMIM:618395
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth OMIM:218650
Cleidocranial Dysplasia
Depressed nasal bridge, Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal ep... ORPHA:1452
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac w... OMIM:208500
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,... ORPHA:2639
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i... OMIM:250220
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Depressed ... OMIM:617102
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Death in early adulthood, Micromelia ORPHA:79107
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Narrow chest, Micromelia, Broad long bones, Micrognathia, Short ri... OMIM:224400
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Clinodactyly of the 5th finger, Short... ORPHA:217340
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Open... ORPHA:2097
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... ORPHA:2563
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... OMIM:614078
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul... OMIM:212780
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Acrocephalopolydactyly
Depressed nasal ridge, Thoracic hypoplasia, Limb undergrowth, Brachydactyly, Short long bone, Sho... ORPHA:221054
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Micromelia, Short palm, Coxa vara ORPHA:168555
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, 11 pairs of ribs, Micrognathia, Femoral bowing, T... ORPHA:140
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Pulmonary hypoplasia, Narrow chest, Short toe, Atelectasis, Short finger, S... OMIM:269860
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Respiratory distress, Long palm, Arachnodactyly, Missing ribs... ORPHA:2759
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Radial Ray Hypoplasia With Choanal Atresia
Choanal atresia, Depressed nasal bridge, Short thumb, Distally placed thumb, Choanal stenosis, Hy... OMIM:179270
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Short nose, Anteverted nares, ... ORPHA:93329
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... ORPHA:3104
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... OMIM:308050
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty... OMIM:258865
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h... OMIM:609052
Prieto Syndrome
Radial deviation of finger, Clinodactyly, 11 pairs of ribs, Prominent nose, Talipes equinovarus, ... OMIM:309610
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Mic... OMIM:617925
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Antev... ORPHA:969
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Respiratory distress, Elbow flexion contracture, Hip... ORPHA:1145
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Rhizomelia, St... OMIM:222765
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Short thorax, Anteverted nares, Missing ribs, Abnormal rib morphology, Spina b... ORPHA:1797
Osteogenesis Imperfecta, Type X
Thin ribs, Pyloric stenosis, Rhizomelia, Dentinogenesis imperfecta, Narrow chest, Micromelia, Tho... OMIM:613848
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Proxi... OMIM:609324
Potocki-Shaffer Syndrome
Downturned corners of mouth, Parietal foramina, Turricephaly, Wormian bones, 2-5 finger cutaneous... OMIM:601224
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... OMIM:157980
Hyperparathyroidism, Transient Neonatal
Thin ribs, Wide nasal bridge, Fractured rib, Narrow chest, Depressed nasal bridge, Metaphyseal sp... OMIM:618188
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Respiratory distress, Anteverted nares, Micrognathia, Mandibular aplasia, ... ORPHA:1832
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Micrognathia, Turricephaly, Brachycephaly, Brachydactyly, Split ha... ORPHA:2145
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Frontal bo... ORPHA:163649
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f... OMIM:260660
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... ORPHA:2631
Tarp Syndrome
Wide nasal bridge, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Anteverted nar... ORPHA:2886
Atelosteogenesis Type I
Rhizomelia, Narrow chest, Thoracic hypoplasia, Micrognathia, Talipes equinovarus, Limb undergrowt... ORPHA:1190
Boomerang Dysplasia
Neonatal death, Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Immunodeficiency 43
Radial bowing, Hypoplasia of the ulna, Lung abscess, Organizing pneumonia, Recurrent respiratory ... OMIM:241600
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Cleft soft palate, Turricephaly, Wor... OMIM:604757
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Twelfth rib hypoplasia, Bell-shaped thorax, Micrognathia, Tachypnea, Long clavicles, Cone-shaped ... ORPHA:397715
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li... ORPHA:93351
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Bulbous nose, Clinodactyly of the 5th toe, Short sternum, Ulnar deviati... OMIM:620113
Achondrogenesis Type 1B
Narrow chest, Micromelia, Short thorax, Anteverted nares, Micrognathia, Talipes equinovarus, Apla... ORPHA:93298
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... OMIM:610921
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Achondrogenesis Type 1A
Narrow chest, Micromelia, Short nose, Anteverted nares, Micrognathia, Multiple rib fractures, Apl... ORPHA:93299
W Syndrome
Depressed nasal bridge, Broad nasal tip, Radial bowing, Clinodactyly, Elbow dislocation, Cubitus ... ORPHA:2804
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Rudimentary fibula, Elbow flexion ... OMIM:200980
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Kinsship Syndrome
Downturned corners of mouth, Cervical ribs, Thick lower lip vermilion, Ankyloglossia, Widely spac... OMIM:619297
Metaphyseal Chondrodysplasia, Jansen Type
Choanal atresia, Metaphyseal cupping, Micrognathia, Hip contracture, Short ribs, Bowing of the lo... OMIM:156400
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the... OMIM:614900
Metatropic Dysplasia
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Hypoplastic cervical ... ORPHA:2635
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Unilateral cleft lip, Delayed cranial suture closure, Abnormality of the w... ORPHA:2511
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Perching Syndrome
Respiratory distress, Depressed nasal bridge, Camptodactyly OMIM:617055
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Thick anterior alveol... ORPHA:2839
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Micromelia, Posterior rib cupping, Irregular epiphyses, Thoracic hypoplasia, S... OMIM:608728
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Short columella, Short nose OMIM:155050
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Short sternum, Short nose, Wide anterior fontanel OMIM:222448
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum... OMIM:277170
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Limited elbow extension, Limb undergrowth, Pectus excavatum, Bowing of the legs ORPHA:156728
Duane-Radial Ray Syndrome
Choanal atresia, Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder di... OMIM:607323
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of ... ORPHA:163966
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Clark-Baraitser Syndrome
Sandal gap, Clinodactyly, Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Th... OMIM:617752
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Flared metaphysis, Cone-shape... OMIM:309350
Marshall-Smith Syndrome
Hypoplasia of the odontoid process, Aspiration pneumonia, Death in childhood, Bullet-shaped middl... OMIM:602535
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Short thumb, Clinodactyly, Micrognathia, Oligodontia, Arachnodacty... OMIM:600325
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short 4th toe, Anteverted nares, Short humerus, Brachydactyly, Short lower ... ORPHA:420794
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipes equinovarus, Anal atresia, Hi... OMIM:300373
Chitayat Syndrome
Depressed nasal bridge, Respiratory distress, Anteverted nares, Short columella, Hallux valgus, B... OMIM:617180
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl... OMIM:119800
Cornelia De Lange Syndrome 2
Small hand, Clinodactyly, Downturned corners of mouth, Micrognathia, Limited elbow movement, Thin... OMIM:300590
Radio-Renal Syndrome
Depressed nasal bridge, Chylothorax, Micromelia, Respiratory distress, Micrognathia, Pleural effu... ORPHA:3015
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, P... ORPHA:70589
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Respiratory distress, Broad ribs, Short ribs, Abnormal rib morpholog... ORPHA:2519
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... ORPHA:2370
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the ulna, Hypoplasia of t... ORPHA:246
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Abnormality of the wrist, Wide nose, Radioulnar synostosis, Abnormal... ORPHA:2319
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Meier-Gorlin Syndrome 3
Recurrent pneumonia, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasia, Sho... OMIM:613803
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Micrognathia, Narrow mouth, Oligod... ORPHA:251019
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent ... ORPHA:1352
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Depressed nasal bridge, Increased density of long bones, Short 1s... OMIM:269150
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... OMIM:225500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Radioulnar synostosi... ORPHA:95699
Ruvalcaba Syndrome
Small hand, Narrow chest, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow exten... OMIM:180870
Pseudodiastrophic Dysplasia
Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Micrognathia, Phalangeal dislo... OMIM:264180
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Cornelia De Lange Syndrome 1
Finger aplasia, Pneumonia, Choanal atresia, Depressed nasal bridge, Micromelia, Hypoplastic radia... OMIM:122470
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Neonatal death, Hand polydactyly, Absent radius, Proximal placement of thumb, Pulm... OMIM:314390
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Talipes, Clinodactyly of the 5th finger, High palate,... ORPHA:376
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Atelectasis, Camptodactyly of finger, Cutaneous finger syndactyly, Na... ORPHA:896
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... OMIM:271650
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Craniofrontonasal Dysplasia
Abnormality of the dentition, Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of fing... ORPHA:1520
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion OMIM:607371
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... ORPHA:2911
Kniest Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped femur, Flare... OMIM:156550
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Shox-Related Short Stature
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion OMIM:309545
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, Death in chi... OMIM:616809
Phocomelia, Schinzel Type
Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum,... ORPHA:2879
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Atelectasis, Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Thoracic hypoplasia, Knee di... ORPHA:56305
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation OMIM:620200
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Steinfeld Syndrome
Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, ... OMIM:184705
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Pectus carinatum, Microglossia, Narrow chest, Postaxial polysyndactyly ... OMIM:263520
Cranioectodermal Dysplasia 1
Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa... OMIM:218330
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Non-Distal Duplication 10Q
Micrognathia, Brachycephaly, Everted lower lip vermilion, High palate, Frontal bossing ORPHA:1695
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Short nose ORPHA:1450
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Abnormal thorax morphology, Respiratory tract infection, Pulmonary edema,... ORPHA:70587
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... ORPHA:971
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Acromesomelic Dysplasia 1
Acromesomelia, Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Long hallux, ... OMIM:602875
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Narro... OMIM:619110
Pyknoachondrogenesis
Stillbirth OMIM:265880
Scarf Syndrome
Wide nasal base, Short sternum, Pectus carinatum ORPHA:3134
Pyknoachondrogenesis
Depressed nasal ridge, Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Aplastic pubic... ORPHA:3003
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th fin... ORPHA:52
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Bowing of the long bones, Sprengel anomaly, Brachydactyly, Acromesomelia ORPHA:40
Distal Duplication 5Q
Absent thumb, Micrognathia, Prominent nasal bridge, Hypoplasia of the ulna, Hypoplasia of the rad... ORPHA:96097
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Chronic rhinitis,... ORPHA:3312
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic rhinitis... ORPHA:922
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Polydactyly OMIM:615993
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Upper limb undergrowth, Abnormal foot morp... ORPHA:94068
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Clinodactyly, Long philtrum, Micrognathia, Unilambdoid synostosis, Brachycephaly, ... OMIM:618577
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Micromelia, Nonopposable triphalangeal thumb, Hypoplasia of the radius ORPHA:2252
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Mi... OMIM:252500
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Wide nasal bridge, Depressed nasal bridge, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly... OMIM:620073
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Scarf Syndrome
Wide nasal bridge, Pectus carinatum, Prominent nasal bridge, Barrel-shaped chest, Short sternum OMIM:312830
Larsen-Like Syndrome
Joint dislocation, Dental malocclusion, Frontal bossing, Radial deviation of the 4th finger, Tali... OMIM:608545
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Prominent median palatal ... OMIM:602342
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal dental morphology, Abnor... ORPHA:1837
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Thin upper lip vermilion,... ORPHA:487825
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, High palate, Narrow mouth ORPHA:2528
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Micr... OMIM:300882
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto... OMIM:134780
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Diastrophic Dysplasia
Depressed nasal bridge, Ulnar deviation of finger, Abnormal epiphysis morphology, Hypoplastic cer... ORPHA:628
Achondroplasia
Thoracolumbar kyphosis, Depressed nasal bridge, Hip joint hypermobility, Rhizomelia, Thoracic hyp... ORPHA:15
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Antley-Bixler Syndrome
Long philtrum, Delayed cranial suture closure, Camptodactyly of finger, Femoral bowing, Narrow mo... ORPHA:83
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Apnea, Neonatal death, C... OMIM:610015
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac... ORPHA:1784
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Microlissencephaly-Micromelia Syndrome
Micromelia, Respiratory distress, 11 pairs of ribs, Bilateral single transverse palmar creases, A... ORPHA:50810
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Limited elbow flexion, Microg... OMIM:258315
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Choanal atresia, Short thumb, Micrognathia, Radioulnar synostosis, Hy... OMIM:263750
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... OMIM:601559
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Coffin-Siris Syndrome 11
Bifid uvula, Small hand, Downturned corners of mouth, Frontal bossing, Cleft soft palate, Esophag... OMIM:618779
Craniosynostosis 6
Plagiocephaly, Right unilambdoid synostosis, Parietal foramina, Delayed cranial suture closure, B... OMIM:616602
Mesomelia-Synostoses Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia morphology, Micrognat... ORPHA:2496
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent lower respira... OMIM:616726
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Anodo... ORPHA:90652
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Thoracic hypoplasia, Anteverted nares, Upper limb undergrowth OMIM:613124
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Cone-shaped epiphysis, Plagiocephaly, Carpal synos... ORPHA:53271
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Short ribs, Carpal bone hypoplasia... OMIM:252600
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Small hand, Plagiocephaly, Downturned corners of mouth, Prominent occiput, Dolichocephaly, Brachy... OMIM:618672
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Craniosynostosis OMIM:614416
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death OMIM:273680
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis... ORPHA:93316
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Thoracic hypoplasia, Respiratory distress, Microgn... OMIM:608022
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Death in infancy, Neonatal death, Hypoplasia of the radius, Small then... OMIM:613390
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Narrow chest, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sa... ORPHA:1860
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5th finger, An... OMIM:617877
Gómez-López-Hernández Syndrome
Thin vermilion border, Brachycephaly, Turricephaly ORPHA:1532
Achondrogenesis
Narrow chest, Micromelia, Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the lungs, Short ... ORPHA:932
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Persistent open anterior fontanelle, Long philtrum, Narrow mouth, Arachnodactyly... OMIM:615539
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t... ORPHA:93258
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ... ORPHA:2780
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Weiss-Kruszka Syndrome
Single transverse palmar crease, Prominent nasal tip, Clinodactyly of the 5th finger, Proximal pl... ORPHA:502430
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Depressed nasal bridge, Narrow chest, Rhizomelia, 11 pairs of ribs OMIM:617661
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Nail-Patella Syndrome
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... OMIM:161200
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology... ORPHA:1387
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Calcification of cartilage, Exertional d... ORPHA:3348
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Metaphyseal dapp... OMIM:184250
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Wide nasal bridge, Enlarged naris, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Ant... OMIM:616266
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, 11 pairs of ribs, Micrognathia, Prominent nasal bridge, Recurrent respiratory ... OMIM:618356
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypopl... ORPHA:3186
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split foot, Split hand, Cleft palate OMIM:183700
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Coxa valga, Contracture... OMIM:216800
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph... OMIM:615761
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ... OMIM:618363
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Depressed nasal... OMIM:600373
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Clinodactyly, Rad... OMIM:157900
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Cardioacrofacial Dysplasia 2
Conical tooth, Postaxial foot polydactyly, Narrow chest, Genu valgum, Tented upper lip vermilion,... OMIM:619143
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Micrognathia, Clinodactyly OMIM:300934
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Micromelia, Short thorax ORPHA:93283
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Anteverted nares, Micrognathia, Short sternum, Short nose, Wide nose OMIM:257300
Opsismodysplasia
Depressed nasal bridge, Narrow chest, Broad thumb, Abnormal epiphysis morphology, Hypoplastic ver... ORPHA:2746
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, Short nose ORPHA:261120
Ruvalcaba Syndrome
Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Narr... ORPHA:3121
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Thoracic kyphoscoliosis, High palate, Pe... OMIM:618371
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Brachydactyly, Recurrent respiratory infections, Con... OMIM:618618
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc... OMIM:300244
Maxillonasal Dysplasia
Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Short columella, A... ORPHA:1248
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Narrow chest, Thoracic hypoplasia, Trident pelvis, Sho... OMIM:619479
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Respiratory distress, Horizontal rib... OMIM:617088
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Oligodontia, Thin upper lip vermilion... OMIM:616331
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Abnormal thorax morphology, Pleural effusion, D... ORPHA:50251
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh... OMIM:166210
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac... OMIM:619636
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... ORPHA:2919
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog... ORPHA:3429
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br... OMIM:618529
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, Hypoplasia of the ulna, Pectus excavatum, Short nose OMIM:615398
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Brachycephaly, Everted lower lip vermilion, Short foot ORPHA:228399
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy