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Gene: Sox9 MGI:98371

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SRY (sex determining region Y)-box 9
Synonyms:
2010306G03Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sox9 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 predicted to be associated to Sox9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Schneckenbecken Dysplasia
Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat acetabular ... OMIM:269250
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis... OMIM:602471
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abdominal distention, Short thorax, A... ORPHA:85166
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... OMIM:228520
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Kniest Dysplasia
Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,... OMIM:156550
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia... OMIM:151210
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... OMIM:223800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Atelosteogenesis, Type I
Laryngeal stenosis, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest... OMIM:108720
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul... ORPHA:141152
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... OMIM:211350
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... OMIM:617866
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala... OMIM:600920
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... OMIM:112350
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac... OMIM:187600
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus carinatum, Hig... ORPHA:958
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... OMIM:259420
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... OMIM:607326
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... OMIM:171480
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... OMIM:119600
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... ORPHA:1427
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... OMIM:264700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... ORPHA:3035
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... OMIM:607778
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... OMIM:277440
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Shox-Related Short Stature
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Hi... ORPHA:314795
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Death in infancy, Micrognathia, Wide anterior f... OMIM:619135
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, M... OMIM:614091
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... ORPHA:3104
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post... OMIM:258850
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... OMIM:613848
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa... ORPHA:79107
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer... OMIM:114290
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... OMIM:610915
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... OMIM:620076
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... OMIM:271640
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... OMIM:207410
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... OMIM:307800
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Pectus excavatum, Joint stiffness, Radi... ORPHA:1388
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Kyphoscoliosis, Cleft palate, Pseudo... OMIM:607371
Grant Syndrome
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus ... OMIM:311900
Metaphyseal Dysplasia, Spahr Type
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... OMIM:250400
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:611880
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Wide cranial sutures, Ost... ORPHA:289157
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bow... OMIM:601559
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... ORPHA:2878
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan... ORPHA:93316
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Micr... ORPHA:166272
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... ORPHA:1512
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... OMIM:184260
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Abnorm... ORPHA:2563
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat... OMIM:269860
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi... OMIM:143095
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:241530
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add... ORPHA:2804
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Peroxisome Biogenesis Disorder 10A (Zellweger)
Death in infancy, Micrognathia, Feeding difficulties, Epiphyseal stippling, High palate OMIM:614882
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Short palm, Thoracic he... OMIM:268310
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Adenylosuccinate Lyase Deficiency
Flat occiput, Anteverted nares, Microcephaly, Brachycephaly, Short nose ORPHA:46
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... ORPHA:1423
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... ORPHA:1040
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic ilia, Hypopla... OMIM:169550
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Arthrogryposis, Distal, Type 7
Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Feeding difficulties,... OMIM:158300
Bowen-Conradi Syndrome
Death in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Feeding difficulties... ORPHA:1270
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... ORPHA:2752
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feed... ORPHA:251028
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Nasogastric tube feeding in... ORPHA:453510
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Death in infancy, Lumbar hyperlordosis, Flat acetabu... OMIM:256050
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... OMIM:252500
Intellectual Developmental Disorder, Autosomal Recessive 27
Failure to thrive, Depressed nasal bridge, Midface retrusion, Microcephaly OMIM:614340
Ulna Metaphyseal Dysplasia Syndrome
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f... ORPHA:1837
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short thorax, Cleft palate, Enlarged thorax, Narrow pelvis bo... ORPHA:66637
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont... OMIM:157980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... ORPHA:96334
Blount Disease, Adolescent
Genu varum, Osteochondritis dissecans, Bowing of the legs OMIM:259200
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... OMIM:200980
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Brachycephaly, Macrocephaly, Thickened calvaria ORPHA:178377
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car... OMIM:613642
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone,... OMIM:619751
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni... OMIM:602535
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o... OMIM:613849
Tarp Syndrome
Finger syndactyly, Apnea, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... ORPHA:2886
Non-Distal Duplication 10Q
Frontal bossing, Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Short nose, C... ORPHA:1695
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, High palate, Abnormal b... ORPHA:93315
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, P... ORPHA:175
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... ORPHA:1765
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Joint dislocation, Micrognathia, Feeding difficulties, Wide mouth, Widely s... OMIM:300934
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... OMIM:613255
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Irregular epiphys... OMIM:600204
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Perching Syndrome
Respiratory distress, Feeding difficulties, High palate, Scoliosis, Dysphagia, Joint contracture,... OMIM:617055
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... OMIM:620269
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Proximal placement of thumb, Feeding difficulties, ... OMIM:620113
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... OMIM:277170
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena... OMIM:301014
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequen... OMIM:261800
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... ORPHA:1143
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... OMIM:184250
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... OMIM:601812
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal cortical bone morp... ORPHA:2097
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Brachy... ORPHA:93950
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Scarf Syndrome
Craniosynostosis, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hyperflexibility... ORPHA:3134
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Lon... ORPHA:166100
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... OMIM:618363
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Beaking of vertebral ... OMIM:231070
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... OMIM:300554
Glass Syndrome
Dental crowding, Arachnodactyly, Anterior tibial bowing, Conical tooth, Micrognathia, Narrow mout... OMIM:612313
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Pectus carinatum... OMIM:613330
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar... OMIM:122470
Bowen-Conradi Syndrome
Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia OMIM:211180
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Inguinal hernia, Microcephaly, Flexion contracture, Short nose, Failure to t... OMIM:618379
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea... ORPHA:95699
Aase-Smith Syndrome
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... ORPHA:916
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ... OMIM:263650
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Ulbright-Hodes Syndrome
Respiratory distress, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short... ORPHA:3404
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... OMIM:218600
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve... ORPHA:2631
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal pala... ORPHA:1277
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot olig... OMIM:276820
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Feeding difficulties in infancy, Prominent interphalangea... OMIM:618371
Rhyns Syndrome
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly OMIM:602152
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... OMIM:617102
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
17Q21.31 Microduplication Syndrome
Anteverted nares, Microcephaly, Micrognathia, Malar flattening, Short nose, Failure to thrive ORPHA:217340
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Dysphagia, Respira... OMIM:614399
Pyle Disease
Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t... OMIM:265900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Bowel incontinence, Wide a... OMIM:616482
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, Kyphosis, High palate, Prenatal death, Campto... OMIM:618393
Moebius Syndrome
Respiratory distress, Micrognathia, Feeding difficulties in infancy, High palate, Lower limb unde... OMIM:157900
Arthrogryposis, Distal, Type 1C
Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris... OMIM:619110
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Autosomal Recessive Hypophosphatemic Rickets
Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge... ORPHA:289176
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N... OMIM:612651
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, 2-3 toe syndactyly, Shor... OMIM:618608
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respiratory insufficiency due ... OMIM:611890
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
Scarf Syndrome
Barrel-shaped chest, Coronal craniosynostosis, Pectus carinatum, Abnormal form of the vertebral b... OMIM:312830
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General... ORPHA:85198
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Single transverse palmar crease, Malar flattenin... OMIM:269150
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly ORPHA:2898
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... OMIM:300009
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... OMIM:608728
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... OMIM:617974
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... ORPHA:3098
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Talipes, Ulnar deviation of finger,... ORPHA:1146
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... OMIM:609324
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu... OMIM:114300
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Depressed nasal bridge, Microcephaly, Micrognathia, Flexion contracture, Brachycephaly, Failure t... OMIM:620240
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Long palm, Arachnodactyly, Abnormality of the philtrum, Missing ribs, Aplas... ORPHA:2759
Achondrogenesis, Type Ii
Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S... OMIM:200610
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Epiphyseal stippling, Glossoptosis, Death in infancy OMIM:614876
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... ORPHA:93311
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis ORPHA:718
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S... ORPHA:53697
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max... OMIM:224690
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... OMIM:614078
Potocki-Shaffer Syndrome
Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Parietal forami... ORPHA:52022
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Macrocephaly, Midface retrusion, Micrognathia OMIM:611913
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Small for gestational age, Micrognathi... OMIM:615834
Cebalid Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depresse... OMIM:618774
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi... ORPHA:2370
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Feeding diffi... OMIM:619793
Hypophosphatasia, Childhood
Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro... OMIM:241510
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Micrognathia, Microglossia, Dental malocclusion, Cl... OMIM:614669
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypopla... OMIM:617895
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Brachycephaly, Microcephaly ORPHA:2528
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Abdominal distention, Respiratory insufficiency, Stillbirth, Narrow... OMIM:600972
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Coxa vara, Pectus carinatum, Delayed calcaneal ossi... OMIM:183900
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi... ORPHA:2484
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Potocki-Shaffer Syndrome
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Brachycephaly, Wide nasal bridge, Sho... OMIM:601224
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnorma... ORPHA:1988
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... ORPHA:2790
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Brachycephaly, Macrocephaly OMIM:300699
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... ORPHA:85165
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch, Vertebral h... OMIM:602557
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed... OMIM:616583
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... OMIM:227270
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... ORPHA:1248
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Donnai-Barrow Syndrome
Malar flattening, Wide anterior fontanel, Short sternum, Intestinal malrotation OMIM:222448
Mosaic Variegated Aneuploidy Syndrome 1
Micrognathia, Feeding difficulties in infancy, Cleft palate, Short sternum, Long philtrum, Malar ... OMIM:257300
Dysostosis Multiplex, Ain-Naz Type
Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular r... OMIM:619345
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib... ORPHA:798
Rhiny
Short nose, Anteverted nares, Inguinal hernia OMIM:180360
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Narrow mouth, Whistling appearance, T... OMIM:277720
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gast... OMIM:117650
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... ORPHA:85184
Familial Anetoderma
Irregular dentition, Lumbar hyperlordosis, High, narrow palate, Abnormal tibia morphology, Genera... ORPHA:228277
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Midface retrusion, Broad nasal tip ORPHA:2776
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat... ORPHA:1832
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o... ORPHA:576283
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... OMIM:256200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagioc... OMIM:618577
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil... OMIM:601492
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Kyphosis,... ORPHA:2635
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Thoracomelic Dysplasia
Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Jo... ORPHA:1803
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:3201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Barrel-shaped c... ORPHA:94068
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Anauxetic Dysplasia 3
Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa... OMIM:618853
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Microcephaly, Brachycephaly, Obesity, Dolichocephaly, S... OMIM:617752
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Feeding difficulties in infancy, Postax... ORPHA:474
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, R... ORPHA:93160
Gómez-López-Hernández Syndrome
Turricephaly, Anteverted nares, Brachycephaly, Midface retrusion ORPHA:1532
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, High, nar... ORPHA:2780
Spondyloepimetaphyseal Dysplasia, Shohat Type
Laryngeal stenosis, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Ab... ORPHA:93352
Ulnar-Mammary Syndrome
Deformed radius, Subglottic stenosis, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpa... OMIM:181450
Joubert Syndrome 18
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Cl... OMIM:614815
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multiplex con... OMIM:616570
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Acromegaloid Facial Appearance Syndrome
Joint hypermobility, Tapered finger, Micrognathia, Deep philtrum, Large hands, Thick vermilion bo... OMIM:102150
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Malar flattening, Short nos... OMIM:613670
Pseudodiastrophic Dysplasia
Frontal bossing, Anteverted nares, Micrognathia, Brachycephaly, Camptodactyly, Malar flattening, ... OMIM:264180
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... ORPHA:1856
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur... OMIM:610967
Achondrogenesis Type 1A
Short palm, Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal encho... ORPHA:93299
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... OMIM:144750
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Wormian bones,... OMIM:269300
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Micrognathia, Joint stiffness, Whistling appearance, Pierre-Robin sequence, Abnormal shoulder mor... ORPHA:1150
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... OMIM:617468
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Bronchiectasis OMIM:241600
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus exca... OMIM:619131
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Feeding diff... ORPHA:1387
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand poly... OMIM:241800
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Brachycephaly, Micrognathia ORPHA:1514
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... ORPHA:239
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening OMIM:183700
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension OMIM:615703
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Flexion contrac... OMIM:222765
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Microgn... OMIM:618356
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Brachycephaly OMIM:309545
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Rocker bottom foot, Micrognathia, Feeding difficulties in infancy, Death in chi... OMIM:618766
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Downturned corners of mouth, High palate, Narrow chest, Thoracic kyphosis, Abnormal... ORPHA:163649
Atelosteogenesis Type Ii
Laryngeal stenosis, Cervical kyphosis, Micromelia, Micrognathia, Tracheobronchomalacia, Narrow ch... ORPHA:56304
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur... OMIM:616531
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Radio-Renal Syndrome
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... ORPHA:3015
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Brachycep... ORPHA:171839
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Irregular ... ORPHA:250984
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i... ORPHA:99228
Monosomy X
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i... ORPHA:99226
Turner Syndrome
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i... ORPHA:881
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Osteomalacia, Coxa valga, Avascular necrosis of the capital femora... ORPHA:1901
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... OMIM:619150
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no... OMIM:312870
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... OMIM:271665
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... ORPHA:2928
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... ORPHA:63446
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Narrow chest, Pterygium, Aniso... ORPHA:1865
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Acrodysostosis
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... ORPHA:950
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Oculofaciocardiodental Syndrome
Feeding difficulties in infancy, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short ... ORPHA:2712
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Inguinal hernia, Decreased body weight, Micrognathia, Microcephaly, Brachycephal... OMIM:600325
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Pierpont Syndrome
Wide nose, Broad nasal tip, Microcephaly, Brachycephaly, Decreased body weight, Malar flattening,... OMIM:602342
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... ORPHA:319195
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ... OMIM:300602
Pierpont Syndrome
Small for gestational age, Wide nasal ridge, Abnormal subcutaneous fat tissue distribution, Brach... ORPHA:487825
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Azoospermia, Car... OMIM:602390
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... OMIM:613091
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, Bro... OMIM:613792
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion OMIM:612247
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Coffin-Siris Syndrome 1
Single transverse palmar crease, Conical tooth, Feeding difficulties in infancy, Prominent interp... OMIM:135900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Microcephaly, Brachycephaly, Joint contracture, Short nose OMIM:615419
Ring Chromosome 8 Syndrome
Frontal bossing, Short nose, Anteverted nares ORPHA:1450
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage ORPHA:2867
Macrocephaly-Intellectual Disability-Autism Syndrome
Frontal bossing, Depressed nasal bridge, Multiple lipomas, Macrocephaly, Short nose, Midface retr... ORPHA:210548
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... OMIM:251450
Sillence Syndrome
Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbou... ORPHA:3168
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia ORPHA:2015
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... OMIM:616331
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Meta... OMIM:255800
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... OMIM:620369
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Micrognathia,... OMIM:215100
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph... OMIM:123000
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di... OMIM:615777
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal o... ORPHA:226313
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Pierre-Robin sequence, Premature osteoarthritis, Cleft ... OMIM:184840
Tetrasomy 9P
Joint dislocation, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short... ORPHA:3310
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Midface retrusion, Microcephaly DECIPHER:52
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... OMIM:612350
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl... OMIM:615065
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Atransferrinemia
Congestive heart failure OMIM:209300
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... OMIM:258860
Ear-Patella-Short Stature Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ... ORPHA:2554
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperexte... ORPHA:544503
Hypophosphatasia, Infantile
Death in infancy, Apnea, Micromelia, Bowing of the legs, Abnormality of the dentition, Anorexia, ... OMIM:241500
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Adducted thumb, U... ORPHA:1147
Pycnodysostosis
Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Persisten... OMIM:265800
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Micromelia... ORPHA:1597
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Flat occiput, Microcephaly, Abnormal zygomatic bone m... ORPHA:2511
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Microcephaly OMIM:620200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Frontal bossing, Hip contracture, Anteverted nares, Prominent nasal bridge, Cachexia, Prominent n... OMIM:616801
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... ORPHA:2167
Qazi-Markouizos Syndrome
Tapered finger, Pectus excavatum, High, narrow palate, Abdominal distention, Hypoplasia of teeth,... ORPHA:3010
Blomstrand Lethal Chondrodysplasia
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ... ORPHA:50945
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... OMIM:216340
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial... OMIM:617088
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Micrognathia, Kyphosis, Flexion contracture, Hip dislocation, Elbow flexion contracture... ORPHA:75840
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... OMIM:224400
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Long foot, Micrognathia, High, narrow palate, Dyspnea, Feed... ORPHA:2707
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... ORPHA:1506
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Feeding difficulties in inf... ORPHA:3447
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... OMIM:271225
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge, Microcephaly OMIM:618302
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival... OMIM:618529
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Fetal Trimethadione Syndrome