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Gene: Ccp110 MGI:2141942

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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:
centriolar coiled coil protein 110
Synonyms:
CP110,  6330503K22Rik

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 Ccp110 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ccp110 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Stillbirth, Abnormal heart morphology, Abnormal hip bone morphology, A... ORPHA:294975
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Atrial septal defect, Ana... OMIM:175700
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic ilia, Pectus carinatum, Delayed vertebral ossification, Flexion contracture, Long hal... OMIM:613330
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Ventriculomegaly, Nephronophthisis, Thoracic hypoplasia, Thoracic dysplas... OMIM:615630
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encephalocele, Microglossia, Mi... OMIM:241800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Ventricular septal defect, Decreased skull ossification... OMIM:616897
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Downturned... ORPHA:93267
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar... OMIM:228520
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short palm, Holopro... OMIM:269860
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Branchial cyst, Long philtrum, Intrauterine gro... OMIM:615583
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Cervical r... OMIM:617927
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Congenital diaphragmatic hernia, Ventricu... ORPHA:96170
Emanuel Syndrome
Aortic valve stenosis, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, ... OMIM:609029
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Encephalocele, Flat acetabular roof, Anal atresia, ... OMIM:616300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Encephalocele, Talipe... ORPHA:1865
Triploidy
Iris coloboma, Narrow chest, Finger syndactyly, Intestinal malrotation, Intrauterine growth retar... ORPHA:3376
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte... ORPHA:401935
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Intestina... OMIM:617866
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Umbilical hernia, Advanced t... OMIM:269250
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Ventriculomegaly, Micromelia, F... OMIM:187601
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Amelia, Ventricular se... OMIM:601357
Acalvaria
Hydrocephalus, Omphalocele, Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft pa... ORPHA:945
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Long phil... OMIM:617895
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Bro... ORPHA:508498
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Micromelia, Broad long... OMIM:224400
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Joint stiffness, Micrognathia, Intrauterine ... ORPHA:2516
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Microretrognathia, Ventriculomegaly, Abnormal rib m... ORPHA:261344
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Unilateral renal agenesis, Truncus arteriosus, V... OMIM:601355
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Open bit... ORPHA:2092
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Micrognathia, Abnormal mitral v... ORPHA:7
Catel-Manzke Syndrome
Ventriculomegaly, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint st... ORPHA:1388
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol... ORPHA:2839
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow movement, Ven... OMIM:134780
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Crossed fu... OMIM:618142
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Fanconi Anemia, Complementation Group O
Chromosome breakage, Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney... OMIM:613390
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... OMIM:215140
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Chondrodysplasia, Blomstrand Type
Narrow chest, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Short ribs, Preductal coar... OMIM:215045
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bell-shaped thorax,... ORPHA:56304
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met... OMIM:187600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor... OMIM:613320
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cartilage morpholog... ORPHA:2347
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Umbilical hernia, Absent or minimally ossified verteb... OMIM:600972
Melnick-Needles Syndrome
Craniofacial hyperostosis, Tooth malposition, Micrognathia, Bowing of the long bones, Hip disloca... ORPHA:2484
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Talipes equinovarus... OMIM:225500
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Encephalocele, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:264480
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Narrow chest, Ventriculomegaly, Micromelia, Preaxial polydactyly, Hamartoma of... OMIM:616546
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Biemond Syndrome Type 2
Coloboma, Hypospadias, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Lateral ventricle dilatation, Hypoplast... OMIM:277590
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Omphalocele, Cleft palate OMIM:258320
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Congenital diaphragm... ORPHA:1692
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defect, Hypospadia... OMIM:618316
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Coarse metaphyseal trabecularization, Death in childhood, Short ribs, Limb undergro... OMIM:618961
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Micromelia, Absent vertebral body mineralization, Delayed pubic b... ORPHA:93296
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Iris colob... OMIM:109400
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... OMIM:136760
Three M Syndrome 1
Short 5th finger, Slender long bone, Long philtrum, Thick lower lip vermilion, Intrauterine growt... OMIM:273750
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ventricular ... OMIM:146510
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Joint stiffness, Micrognathi... ORPHA:1707
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Osteopenia, Metaphyseal spurs,... OMIM:618188
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Cone-shaped epiphysis, Thoracic h... OMIM:613091
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... OMIM:173800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Twelfth rib hypop... ORPHA:397715
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Ventricular septal defect, Abnormal metacarpal morphology, Atr... ORPHA:2008
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... ORPHA:261330
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... OMIM:603194
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Micrognathia, Tibial bowi... ORPHA:3035
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Camptodactyly, High palate, Rocke... OMIM:618393
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Abnormal tibia morphology, Tetralo... ORPHA:1335
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial... OMIM:263520
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Multicystic kidney dysplasia, Natal tooth, Fibular aplasia, Microg... OMIM:300373
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, A... OMIM:308050
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop... OMIM:151210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Hypophosphatasia, Infantile
Unossified vertebral bodies, Nephrocalcinosis, Metaphyseal cupping, Rachitic rosary, Micromelia, ... OMIM:241500
Acropectoral Syndrome
Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb... OMIM:605967
Lethal Congenital Contracture Syndrome 10
Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Femoral ... OMIM:617022
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Barrel-shaped chest, Talipe... OMIM:612651
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Abnormal vertebral... ORPHA:66637
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, High palate, C... OMIM:266920
Prieto Syndrome
Abnormality of the dentition, Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Inguina... OMIM:309610
Abruzzo-Erickson Syndrome
Iris coloboma, Ulnar deviation of finger, Toe syndactyly, Short toe, Chorioretinal coloboma, Abno... ORPHA:921
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Cleft lip, Tetralogy of Fal... OMIM:617925
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Undulate r... ORPHA:1801
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Sho... OMIM:614524
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ... OMIM:200610
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Femoral bowing, Limited elbow ... OMIM:100800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs... OMIM:617877
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Congen... OMIM:154400
Trisomy 18
Narrow mouth, Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Ventri... ORPHA:3380
15Q24 Microdeletion Syndrome
Small hand, Clinodactyly, Narrow mouth, Congenital diaphragmatic hernia, Hernia, Anal atresia, Hy... ORPHA:94065
C Syndrome
Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Thick anterior alveolar r... OMIM:211750
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Ventriculomegaly, Short thumb, Preaxial hand polydactyly, Atriove... ORPHA:1120
Poland Syndrome
Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of the sternum, Encephalocele, Con... ORPHA:2911
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Micrognathia, Narrow mouth, Hypospadias, Patent ductus arteriosus, Cone-shaped epiphysis, Short t... OMIM:618659
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Micrognathia, Congenital diaphragmatic hernia, Decreased skull ossific... OMIM:263210
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u... ORPHA:887
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... OMIM:600920
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Large placenta, Open mouth, Flexion contracture of finger, Coat hanger sign of r... ORPHA:254528
Noonan Syndrome 12
Ventriculomegaly, Anteriorly placed anus, Tetralogy of Fallot, 11 pairs of ribs, Ventricular sept... OMIM:618624
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Chromosome 9P Deletion Syndrome
Dermatoglyphic variants, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septal def... OMIM:158170
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... OMIM:271665
Fryns Syndrome
Multicystic kidney dysplasia, Micrognathia, Congenital diaphragmatic hernia, Anal atresia, High p... ORPHA:2059
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... OMIM:607323
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br... OMIM:618529
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Aortic root aneurysm, Genu valgum, Micrognathia, Congenital diaphragmatic he... OMIM:245600
Joubert Syndrome 15
Nephronophthisis, Preaxial polydactyly, Exencephaly, Coloboma, Micropenis OMIM:614464
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short hallux, Dysplastic aortic valve, Hypoplastic aor... ORPHA:508488
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Type B brachydactyly, Absent distal phalanges, Bifid distal ph... OMIM:120400
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Congenital diaphragmatic hernia, F... OMIM:305600
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Kagami-Ogata Syndrome
Thin ribs, Long philtrum, Micrognathia, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Ven... OMIM:608149
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Ventri... ORPHA:3472
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Brachydactyly... OMIM:616589
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum OMIM:618155
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Talipes equinovarus, Radioulnar synostosis, Spreng... ORPHA:1988
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Fetal Encasement Syndrome
Upper limb undergrowth, Horseshoe kidney, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydr... OMIM:613630
Oculocerebrocutaneous Syndrome
Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Ventriculomegaly, Fing... ORPHA:1647
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad clavicles, Osteopenia, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving ta... ORPHA:371428
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Chromosome 10Q26 Deletion Syndrome
Toe syndactyly, Micrognathia, Atrial septal defect, High palate, Patent ductus arteriosus, Promin... OMIM:609625
Marshall-Smith Syndrome
Hypoplasia of the odontoid process, Irregular dentition, Death in childhood, Ventricular septal d... OMIM:602535
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Broad thumb, Downturned corners of mouth, Diastema, Umbilical hernia, Wide mouth,... ORPHA:329224
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Cranioectodermal Dysplasia 1
Chronic kidney disease, Clinodactyly, Anodontia, Bicuspid aortic valve, Broad distal phalanges of... OMIM:218330
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation, Omphalocele ORPHA:85174
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl... ORPHA:1937
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Abnormal hip bone morphology, ... ORPHA:1488
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, Short foot, Patent duct... OMIM:618454
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Nail-Patella Syndrome
Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the femoral medi... OMIM:161200
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, C... OMIM:611867
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polydactyly, Hernia, Ventricular septal defect, Joint hypermobility, Smooth phi... OMIM:602501
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Acropectoral Syndrome
Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Micrognathia, Gingival overgro... ORPHA:1834
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilata... OMIM:210710
3Mc Syndrome 1
Lambdoidal craniosynostosis, Caudal appendage, Ventricular septal defect, Radioulnar synostosis, ... OMIM:257920
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Abnormality of th... OMIM:249000
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Schisis Association
Micromelia, Unilateral cleft lip, Encephalocele, Congenital diaphragmatic hernia, Tracheoesophage... ORPHA:63862
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Ventricular septal de... ORPHA:251014
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Micrognathia, Ventricular septal defect, 2-3 toe syndactyly, Truncus a... OMIM:617516
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Intrauterine growth retardation, Broad phalanx, Short phalanx of finger, Short ... OMIM:618724
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... OMIM:615503
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:2143
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i... OMIM:250220
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Ventricular septal defect, Atrial septal defect,... OMIM:600373
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Nephrocalcinosis, Tooth malposition, Pathologic fracture, Microg... OMIM:156400
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Micrognathia, Ventricular septal defect, Micropenis, Atrial... OMIM:615948
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening... OMIM:300863
Shprintzen-Goldberg Syndrome
Elbow dislocation, Genu valgum, Micrognathia, Mitral valve prolapse, Arachnodactyly, Bowing of th... ORPHA:2462
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... OMIM:602557
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Ventricular septa... OMIM:312870
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, Horseshoe kidney, Intrauterine... OMIM:609053
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Ventriculomegaly, Clinodactyly, Tetralogy of Fallot, Parti... OMIM:617926
Miller-Dieker Syndrome
Nephropathy, Clinodactyly of the 5th finger, Abnormal upper lip morphology, Omphalocele ORPHA:531
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili... OMIM:620076
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syndactyly, Congenital diaphrag... ORPHA:373
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Prune belly, Cervical ribs, Preaxial hand polydactyly, Ta... OMIM:601389
Seckel Syndrome 4
Intrauterine growth retardation, Steep acetabular roof, 11 pairs of ribs OMIM:613676
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Ventricular septal defect, Patent ductus arteriosus, Syn... OMIM:616894
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Broad ribs, Irregular ca... OMIM:252600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... OMIM:208500
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Ventriculomegaly, Dilated cardiomyopathy, Sandal gap, Intrauterine growth re... ORPHA:2515
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Ventr... OMIM:614815
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Encephalocel... OMIM:108720
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum... OMIM:277170
Fragile X Syndrome
Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse, Joint hypermobility, Folate-... OMIM:300624
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Patent foramen ovale, Talipes equ... OMIM:607143
Cranioectodermal Dysplasia 2
Clinodactyly, Micrognathia, Atrial septal defect, Everted lower lip vermilion, High palate, Paten... OMIM:613610
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardatio... OMIM:251230
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Amelia, Congenital diaphragmatic hernia, Decreased skull ... OMIM:601163
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Talipes equ... ORPHA:567
Kondoh Syndrome
Interphalangeal joint contracture of finger, Long philtrum, Preaxial hand polydactyly, Intrauteri... OMIM:606242
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal defect, Atrial septal def... ORPHA:2519
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Joubert Syndrome 14
Open mouth, Encephalocele, Intracranial hemorrhage, Ventricular septal defect, Postaxial polydact... OMIM:614424
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Genu valgum, Micrognathia, Mitral valve prolapse, Talipe... OMIM:309350
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal... ORPHA:1354
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Cyclopia, Micrognathia, Narrow mouth, Encephalocele, Or... ORPHA:2166
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Wide anterior fontanel, Abnormal epiphysis morphology... ORPHA:3098
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve morp... ORPHA:1759
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... ORPHA:50945
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Small hand, Aortic root aneurysm, Natal tooth, Long philtrum, Dental cr... OMIM:145420
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Esophagitis, Amelia, Perineal fistula, Abnormal ... ORPHA:2538
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def... OMIM:222448
Holoprosencephaly
Chorioretinal coloboma, Encephalocele, Congenital diaphragmatic hernia, Ventricular septal defect... ORPHA:2162
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Anal a... OMIM:229850
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Coloboma, Hypospadias, Cleft palate OMIM:302905
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Block vertebrae, Anal stenosis, Aplasia of posterior communicating a... OMIM:613686
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Joubert Syndrome 16
Nephronophthisis, Encephalocele, Polydactyly, Renal cyst, Coloboma, Dandy-Walker malformation OMIM:614465
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Abnormal heart morphology, Thick upper ... OMIM:247200
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical vertebrae, C... ORPHA:2635
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl... ORPHA:2754
Opitz Gbbb Syndrome
Aortic root aneurysm, Natal tooth, Ankyloglossia, Micrognathia, Congenital diaphragmatic hernia, ... ORPHA:2745
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Narrow mouth, Submucous clef... ORPHA:3426
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Preaxial ha... OMIM:227646
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Renal hypoplasia, Right aortic arch with mirror image branching, Horsesh... OMIM:601186
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti... ORPHA:254534
Fanconi Anemia, Complementation Group S
Chromosome breakage, Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, N... OMIM:617883
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's ... ORPHA:261120
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 5th finger, Short 5th toe, Short 4th toe, Chromosomal breakage induced by crosslinking agen... OMIM:619060
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Abnormal... ORPHA:175
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Micrognathia, Narrow mouth, Ventricular septal defect, Talipes equinovar... ORPHA:251028
Jacobsen Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hall... ORPHA:2308
Diaphanospondylodysostosis
Thoracic hypoplasia, Delayed vertebral ossification, Tracheomalacia, Horseshoe kidney, Intrauteri... OMIM:608022
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Overriding ... ORPHA:3186
Charge Syndrome
Chorioretinal coloboma, Abnormal tibia morphology, Narrow mouth, Aqueductal stenosis, Holoprosenc... ORPHA:138
Biemond Syndrome Ii
Iris coloboma, Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Hydrocepha... OMIM:614120
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Macroglossia, Delayed eruption of teeth, Omphalocele OMIM:614450
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Joint stiffnes... OMIM:619184
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short mid... ORPHA:391646
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Stromme Syndrome
Bilateral renal hypoplasia, Preaxial polydactyly, Intestinal malrotation, Micrognathia, Wide mout... OMIM:243605
Constricting Bands, Congenital
Abnormal rib cage morphology, Tessier cleft, Cleft upper lip, Encephalocele, Talipes equinovarus,... OMIM:217100
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Chromosomal breakage induced by cros... OMIM:617244
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Orofacial cleft, Coloboma, Hydrocephalus ORPHA:324416
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Limitation of joint mobility,... OMIM:156550
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Widely spaced teeth, Thick upper lip vermilion, Single transverse palmar crease, Vent... OMIM:619717
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Chromosome breakage, Absent thumb, Hypoplastic sacru... OMIM:614083
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Ventriculomegaly, Downturned corners... OMIM:179613
Suleiman-El-Hattab Syndrome
Microretrognathia, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip verm... OMIM:618950
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Preax... OMIM:252100
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Dilated fourth ventricle, Anenc... OMIM:614175
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Neonatal death, Bi... OMIM:265380
Iniencephaly
Narrow mouth, Encephalocele, Congenital diaphragmatic hernia, Talipes equinovarus, Anal atresia, ... ORPHA:63259
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Radioulnar synostosis, Absent radius, Anal at... OMIM:192350
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Congenital contracture, Pursed lips, Umbilical hernia, Elbow flexion contracture, Long philtrum, ... OMIM:616266
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Ventricular se... OMIM:271640
Schinzel-Giedion Midface Retraction Syndrome
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Atrial septal defect, Long clavicles, ... OMIM:269150
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... OMIM:614326
Meckel Syndrome, Type 8
Narrow chest, Occipital encephalocele, Cleft upper lip, Encephalocele, Polydactyly, Talipes equin... OMIM:613885
Robinow Syndrome
Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Marked delay in eru... ORPHA:97360
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Congenital diaphragmatic hernia, Ventricular septal defect, Atr... OMIM:600001
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel, Omphalocele, Umbilical hernia OMIM:275100
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Micrognathia, Ventricular septal defect, Umbilical hernia ORPHA:1918
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Inferiorly posit... OMIM:263650
Alg9-Cdg
Micrognathia, Ventricular septal defect, Talipes equinovarus, Broad ischia, Atrial septal defect,... ORPHA:79328
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Atrioventricular canal defect, Horizontal ... OMIM:617088
Fetal Valproate Spectrum Disorder
Downturned corners of mouth, Long philtrum, Narrow mouth, Omphalocele, Thin vermilion border ORPHA:1906
Meier-Gorlin Syndrome 3
Narrow chest, Microretrognathia, Slender long bone, Patellar hypoplasia, Short thorax, Tracheomal... OMIM:613803
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Micrognathia, Bicuspid aortic valve, Atrial septal defect, High pal... OMIM:612474
Seckel Syndrome 1
Ivory epiphyses, Micrognathia, High palate, Dislocated radial head, Hypospadias, Cone-shaped epip... OMIM:210600
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micrognathia, Dandy-Walker malformation, Anal atresia, Short f... ORPHA:93271
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma OMIM:613094
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Thoracic h... OMIM:256050
Hydrolethalus Syndrome 1
Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation, M... OMIM:236680
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Femoral bowing, Situs inversus totalis, Trunc... OMIM:615415
Carpenter Syndrome 2
Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defec... OMIM:614976
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ... OMIM:620073
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Ventriculomegaly, Abnormality of chromosome stability, Absent thumb, Du... OMIM:300514
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum, Long philtrum, Omphalocele, Craniosynostosis OMIM:190440
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Micromelia, Finger syndactyly, Tetralogy of Fallot, Intrauterine growth retard... ORPHA:1908
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventriculomegaly, Micromelia, Intrauterine growth retardation, Ventricula... ORPHA:2772
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Sho... OMIM:169400
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Keloids, Abnormal pelvis bone ossification,... ORPHA:166119
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type... OMIM:113000
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Intrauterine growth retardation, Missing ribs, Abnormal rib morphology, Spina bifid... ORPHA:1797
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth... ORPHA:3301
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Prot... OMIM:612938
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Coloboma, Brachydactyly, Iris coloboma, Syndactyly OMIM:610023
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Nemaline Myopathy 9
Narrow chest, Micrognathia, Ventricular septal defect, High palate, Arthrogryposis multiplex cong... OMIM:615731
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pectus carinatum, Small hand, Clinodactyly, Long philtrum, Wide mouth, Thin upper lip vermilion, ... OMIM:614684
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,... OMIM:615996
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Renal insufficiency, Right aortic ... OMIM:617478
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Trisomy 4P
Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Radial club hand, Preaxial ... ORPHA:1738
Cree Impaired Intellectual Development Syndrome
Cutaneous finger syndactyly, Micrognathia, Cleft soft palate, Aplasia/Hypoplasia of the ribs, Col... OMIM:606851
Cerebrocostomandibular Syndrome
Carious teeth, Micrognathia, Bell-shaped thorax, Cleft soft palate, Ventricular septal defect, Sh... OMIM:117650
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Horseshoe k... OMIM:227645
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalang... OMIM:251255
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Cartilage destruction ORPHA:2380
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Long palm, Arachnodactyly, Missing rib... ORPHA:2759
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, Ventriculomegaly, Tracheomalacia, 11 pairs of rib... ORPHA:140
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Apl... ORPHA:84
Tarp Syndrome
Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Atrial septal defect, Bilateral ... OMIM:311900
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, 2-3 finger syndactyly, Atr... ORPHA:435638
Jacobsen Syndrome
Iris coloboma, Chorioretinal coloboma, Intrauterine growth retardation, Micrognathia, Ventricular... OMIM:147791
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, He... ORPHA:185
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Open mouth, Patent foramen ovale, Talipes equinovarus, Coloboma, Transposition of t... OMIM:616789
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Ectopic... ORPHA:2345
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Posta... ORPHA:83473
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Talipes equinovarus, Broad fingertip, Finger joint hypermobility... OMIM:212720
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Rhizomelia, Narrow chest, Renal hypoplasia, Hy... OMIM:617661
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Fibular hypoplasia, Short ribs,... ORPHA:3144
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Death in childhood, Left ventricular hypertrophy, Coloboma, Hydrocephalus, Dand... OMIM:613153
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Open mout... OMIM:616362
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Atrial septal defect, Fin... OMIM:618870
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Anal atresia, Chromosomal breakage induced by crosslinking agent... OMIM:605724
Aase-Smith Syndrome I
Slender finger, Open mouth, Death in infancy, Ventricular septal defect, Talipes equinovarus, Hyd... OMIM:147800
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Coloboma, Cleft palate OMIM:600251
Bone Marrow Failure Syndrome 3
Chromosome breakage, Congenital hip dislocation, Downturned corners of mouth, Intrauterine growth... OMIM:617052
Seckel Syndrome 5
Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Oligodontia, Hypodontia, Enamel hypopla... OMIM:613823
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Specc1L-Related Hypertelorism Syndrome
Short toe, Finger syndactyly, Umbilical hernia, Tetralogy of Fallot, Long philtrum, Ventricular s... ORPHA:1519
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Orofacial cleft, Large hands, Preaxial hand polydactyly ORPHA:85287
Thoracoabdominal Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Anencephaly, Ventral hernia, Transposition of t... OMIM:313850
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Open mouth, Long thumb, Ventricular septal defect, Atrial septal defect, Everted lower lip vermil... OMIM:220500
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Bowing of the long bon... OMIM:611134
Kabuki Syndrome
Small hand, Congenital diaphragmatic hernia, High palate, Hypospadias, Hip dislocation, Short 5th... ORPHA:2322
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Rectourethral fistula, Short ribs, Short c... OMIM:603116
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Micrognathia, Vesicoureteral r... ORPHA:1166
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Micrognathia, Bilateral single transverse palmar creases, Abnor... ORPHA:3310
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Horseshoe k... OMIM:600901
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly ORPHA:2921
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Trisomy 13
Abnormality of the ureter, Bilateral single transverse palmar creases, Displacement of the urethr... ORPHA:3378
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents, Short thumb OMIM:609054
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... OMIM:612350
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Broad toe, High palate, Anal atres... OMIM:612582
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbo... ORPHA:1507
Developmental And Epileptic Encephalopathy 89
Narrow chest, Microretrognathia, Long philtrum, Death in childhood, Neonatal death, Thin upper li... OMIM:619124
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Carious teeth, Sandal gap, Wi... OMIM:617102
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Micrognathia, Endocardial fibroelastosis, Ventri... ORPHA:99776
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Joint hypermobility, Hand polydac... ORPHA:261243
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Horseshoe k... OMIM:227650
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Spina bifida, Omphalocele, U... ORPHA:1756
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular... OMIM:177170
Joubert Syndrome 22
Renal hypoplasia, Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly... OMIM:615665
Charge Syndrome
Micrognathia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, B... OMIM:214800
Cloacal Exstrophy
Hydroureter, Ureterocele, Bladder exstrophy, Intestinal duplication, Abnormal tibia morphology, H... ORPHA:93929
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Small hand, Rib exostoses, Natal tooth, Trache... ORPHA:2108
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Open mouth, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High palate, ... ORPHA:453499
Brachydactyly-Preaxial Hallux Varus Syndrome
Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Abnormal palate morpholog... ORPHA:1278
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Desbuquois Syndrome
Small hand, Elbow dislocation, Camptodactyly of finger, Bell-shaped thorax, Ventricular septal de... ORPHA:1425
Omphalocele
Omphalocele ORPHA:660
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Pectus carinatum, Clinodactyly, Genu valgum, Inguinal hernia, Polydactyly, ... OMIM:607131
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Radial-Renal Syndrome
Chromosome breakage, Unilateral renal agenesis, Absent thumb, Absent radius, Ectopic kidney OMIM:179280
ERI1-related disease
Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Finger joint hypermobility... OMIM:608739
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Micrognathia, Glossoptosis, Cleft palate, Hyperextensibility of the finger joints OMIM:618356
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxia... OMIM:615633
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Patellar hypoplasia, Long philtrum, Gingival overgrowth, Vesicoureteral reflux,... ORPHA:464288
Bardet-Biedl Syndrome 7
Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Gillespie Syndrome
Aniridia, Ventriculomegaly, Truncus arteriosus OMIM:206700
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, J... ORPHA:2876
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Everted lower lip vermilion, A... OMIM:249670
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Mitral valve prolapse, Ventricul... OMIM:180849
Braddock Syndrome
Unilateral renal agenesis, Preaxial hand polydactyly, Intrauterine growth retardation, Micrognath... ORPHA:52047
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Intellectual Developmental Disorder, Autosomal Recessive 79
Slender finger, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum, Short hallu... OMIM:620393
Kagami-Ogata Syndrome
Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Micrognathia, Large placenta, Bel... ORPHA:254519
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Duodenal atresia, Intrauterine growth ... OMIM:603467
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate OMIM:612913
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Macroglossia, Ventriculomegaly, Clinodactyly, Long philtrum, 11 pairs of rib... ORPHA:488632
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Horseshoe kidney, Diastasis r... OMIM:248340
Steinfeld Syndrome
Bifid uvula, Retinal coloboma, Abnormal heart morphology, Median cleft palate, Missing ribs, Apla... OMIM:184705
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Diastasis recti, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper... ORPHA:231140
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Split foot ORPHA:3434
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m... ORPHA:296
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Smoot... OMIM:618652
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Atypical scarring of skin, Upper lip pit, Preaxial hand polydactyly... ORPHA:1297
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Ventriculomegaly, Umbilical hernia, Abnormal heart morphology, Open mouth, Pate... ORPHA:500159
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita... ORPHA:63260
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents, Short thumb, Duplication of thumb phalanx OMIM:616435
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi... ORPHA:1826
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Abnormality of the ureter, M... OMIM:200980
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones of the upper limbs, Encephalocele... ORPHA:2369
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Ventriculom... OMIM:614576
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal ... ORPHA:2710
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bo... OMIM:184250
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, H... OMIM:607361
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, 11 pairs of ribs, Ventricular septal defect, Tracheoesophageal fistula, Esophageal... ORPHA:77298
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Ventricular septal de... OMIM:620663
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Ricket... OMIM:264700
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Polydactyly, Renal cyst, Brachydactyly, Syndactyly OMIM:615982
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Iris coloboma, Pate... ORPHA:2712
Stevenson-Carey Syndrome
Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Coloboma, Atrial septal... OMIM:611961
Chromosome 1Q41-Q42 Deletion Syndrome
Ventriculomegaly, Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, C... OMIM:612530
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Rickets, Bulgi... OMIM:241530
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Inguinal hernia, Ventricular septal defect, Sagittal craniosynostosi... OMIM:314320
Bardet-Biedl Syndrome 16
Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly OMIM:615993
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Omph... OMIM:601927
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Knee flexion contracture, Ventricular septal defect, Postaxial polydactyly, Tho... OMIM:603387
Microphthalmia/Coloboma 4
Coloboma OMIM:251505
Familial Multiple Lipomatosis
Ventriculomegaly, Premature eruption of permanent teeth, Abnormal tricuspid valve morphology, Bow... ORPHA:199276
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Fl... OMIM:251450
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly, Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial... OMIM:618974
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx... OMIM:620662
Baraitser-Winter Syndrome 2
Ventriculomegaly, Long philtrum, Thin upper lip vermilion, Orofacial cleft, Coloboma, Wide mouth OMIM:614583
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Absent thumb, Anteriorly placed anus, Esophageal atresia, Primum atrial sept... OMIM:615272
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Microphallus, Small placenta, Intrauterine growth retardation, Mi... ORPHA:397590
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Coloboma, Enamel hyp... OMIM:166750
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Wide anterior fontanel, Prominent fi... OMIM:300963
Microphthalmia/Coloboma 6
Coloboma OMIM:613703
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li... ORPHA:93351
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Bell-sh... ORPHA:485
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... ORPHA:3003
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... OMIM:610168
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Limitation of joint mobility, Micrognathia, Bilater... ORPHA:1308
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Overlapping toe, Micrognathia, Limited elbow movement, High palate, S... ORPHA:221120
Curry-Jones Syndrome
Iris coloboma, Ventriculomegaly, Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc colob... ORPHA:1553
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S... OMIM:615777
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventriculomegaly, Broad thumb, Long philtrum, Overlapping toe, Intrauterine growth retardation, D... OMIM:617452
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b... OMIM:600081
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Umbilical hernia, Abnormalit... ORPHA:2311
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Holoprosencephaly 7
Iris coloboma, Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Media... OMIM:610828
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Pallister-Killian Syndrome
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Micrognathia, Congenital diaphragm... OMIM:601803
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Ventricular septal defect... OMIM:610832
Curry-Jones Syndrome
Iris coloboma, Anal stenosis, Broad thumb, Ventriculomegaly, Unicoronal synostosis, Intestinal ps... OMIM:601707
Monosomy 9Q22.3
Palmar pits, Ventriculomegaly, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow... ORPHA:77301
Aicardi Syndrome
Block vertebrae, Dilated third ventricle, Lateral ventricle dilatation, Optic disc coloboma, Clef... OMIM:304050
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Ra... OMIM:307800
Fragile X Syndrome
Joint hypermobility, Folate-dependent fragile site at Xq28, Mitral valve prolapse, Ascending tubu... ORPHA:908
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:453504
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ventricular septal defect, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:352665
Trisomy 17P
Aortic valve stenosis, Micrognathia, Narrow mouth, High palate, Polycystic kidney dysplasia, Pate... ORPHA:261290
Aicardi Syndrome
Small hand, Block vertebrae, Ventriculomegaly, Chorioretinal coloboma, Optic disc coloboma, Cleft... ORPHA:50
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Coloboma, Hy... ORPHA:370959
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Ventricular septal defect, Talipes equino... OMIM:601808
Ulbright-Hodes Syndrome
Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova... ORPHA:3404
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Anter... OMIM:618494
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Intestinal malrotation, Intrauterine growth retardation, Death in... OMIM:243150
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventriculomegaly, Broad thumb, Toe syndactyly, Long philtrum, Overlapping toe, Intrauterine growt... ORPHA:505237
Esophageal Atresia
Barrett esophagus, Cleft lip, Clinodactyly, Tetralogy of Fallot, Intestinal malrotation, Esophagi... ORPHA:1199
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e... OMIM:277440
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Pectus ca... OMIM:253000
Arthrogryposis Multiplex Congenita 5
Hand clenching, Long philtrum, Umbilical hernia, Elbow flexion contracture, Medullary nephrocalci... OMIM:618947
Chromosome 3Pter-P25 Deletion Syndrome
Downturned corners of mouth, Long philtrum, Atrioventricular canal defect, Overlapping toe, Micro... OMIM:613792
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micrognathia, Acces... OMIM:258860
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Intrauterine growth retard... OMIM:210900
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, High palate, Polycystic kidney dysplasia, Syndactyly,... OMIM:311200
Jackson-Weiss Syndrome
Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology, Symphalangism affecting th... ORPHA:1540
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Bifid uvula, Camptodactyly of finger, Ulnar deviation of the hand or ... OMIM:114300
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Micrognathia, Hip contracture, Ventricular septal defect, Arachnodactyly, T... OMIM:121050
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Micrognathia, Open mouth, Ventricular septal defec... OMIM:620654
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... OMIM:618348
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Cleft upper lip, Micrognathia, Narrow m... OMIM:608572
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te... ORPHA:46627
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... OMIM:271650
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth,... OMIM:253010
Floating-Harbor Syndrome
Broad thumb, Carious teeth, Atrial septal defect, Broad fingertip, Celiac disease, Dislocated rad... OMIM:136140
Ruvalcaba Syndrome
Small hand, Narrow chest, Dental crowding, Micromelia, Limited elbow extension, Inguinal hernia, ... OMIM:180870
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Broad secondary alveo... ORPHA:3369
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Hydroureter, Duplicated colon, Anteriorly plac... OMIM:258040
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Micrognathia, Hernia, Everted lower lip vermilion, ... ORPHA:261318
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Intrauterine growth retardation, Abno... OMIM:272440
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph... OMIM:615761
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Unilateral renal agenesis, Long philtrum, Cutaneous finger syndactyl... OMIM:618419
Fanconi Anemia, Complementation Group U
Chromosome breakage, Absent thumb, Patent ductus arteriosus, Hypoplasia of the radius, Absent rad... OMIM:617247
Kinsship Syndrome
Ankyloglossia, Micrognathia, Dandy-Walker malformation, Dislocated radial head, Hip dislocation, ... OMIM:619297
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Mitral valve prolapse, Arach... OMIM:182212
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Ventricular septal d... ORPHA:955
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow mouth, Ventricular septal de... OMIM:616145
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol... ORPHA:1106
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Abnormality of the uret... ORPHA:3027
16P13.11 Microdeletion Syndrome
Ventriculomegaly, Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated cupid'... ORPHA:261236
Pagod Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormal clavi... ORPHA:991
Roifman Syndrome
Short toe, Downturned corners of mouth, Long philtrum, Irregular femoral epiphysis, Intrauterine ... OMIM:616651
Bohring-Opitz Syndrome
Ventriculomegaly, Cleft lip, Congenital contracture, Urinary retention, Limitation of joint mobil... ORPHA:97297
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... ORPHA:1452
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve... OMIM:618506
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... OMIM:305620
8P23.1 Duplication Syndrome
Toe syndactyly, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Th... ORPHA:251076
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Lateral ... ORPHA:464738
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Cleft upp... OMIM:600987
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Distal urethral duplication, Wide mouth... ORPHA:2549
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Ankyloglossia, Talipes equinovarus, Foot polydactyly, High palate, S... ORPHA:250989
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Optic disc coloboma, Horseshoe kidney, Tetra... OMIM:174300
Insulin-Like Growth Factor I, Resistance To
Abnormal rib cage morphology, Small hand, Sandal gap, Clinodactyly, Short finger, Radial deviatio... OMIM:270450
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Uraciluria, Elevated urinary dihydrothymine level OMIM:274270
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Clinodactyly, Downturned corners of mouth, Umbilical hernia, Ab... ORPHA:369891
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition... OMIM:157900
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, Long thorax, Complete atriov... OMIM:619142
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Ventriculomegaly, Arthrogryposis multiplex congenita, Sandal gap, Finger syndac... ORPHA:254346
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Intrauterine growth retardation, Patellar aplasia, Radioul... OMIM:617604
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Volvulus, Tetralogy of Fal... ORPHA:2970
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Ta... ORPHA:3306
Rhombencephalosynapsis
Ventriculomegaly, Microretrognathia, Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic me... ORPHA:59315
Marden-Walker Syndrome
Joint contracture of the hand, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, R... OMIM:248700
Okamoto Syndrome
Aortic valve stenosis, Exaggerated median tongue furrow, Open bite, Open mouth, Abnormal mitral v... ORPHA:2729
Sonoda Syndrome
Narrow mouth, High axial triradius, Ventricular septal defect OMIM:270460
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Lobar holoprosencephaly, Syndactyly, Pectus ... OMIM:614701
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Hypoplastic aortic arch, ... OMIM:620511
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Short thumb, Tracheomalacia, Cleft upper lip, Tetralogy of ... OMIM:612561
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Ventricular sep... ORPHA:1926
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Esophagitis, Abnormal fibula morp... ORPHA:198
Braddock-Carey Syndrome 1
Small hand, Multicystic kidney dysplasia, Clinodactyly, Anteriorly placed anus, Ventricular septa... OMIM:619980
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Ventriculomegaly, Patellar hypoplasia, Preaxial foot polydactyly... ORPHA:1827
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Joint ... OMIM:619721
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobilit... ORPHA:1427
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Congenital Sialidosis Type 2
Cherry red spot of the macula, Umbilical hernia, Abnormal heart morphology, Gingival overgrowth, ... ORPHA:93400
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Immunodeficiency 54
Chromosome breakage, Intrauterine growth retardation OMIM:609981
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Narrow chest, Ventriculomegaly, Pancreatic lymphangiectasis, Microgna... OMIM:235255
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Finger syndactyly, Short tibia, Micrognathia, Broad fi... ORPHA:2751
Diamond-Blackfan Anemia 1
Micrognathia, Ventricular septal defect, Small thenar eminence, Atrial septal defect, High palate... OMIM:105650
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, Situs inv... OMIM:615994
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... ORPHA:1856
X-Linked Hypophosphatemia
Renal phosphate wasting, Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the lon... ORPHA:89936
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Ventricular septal defect, Oligodontia, Thin upper lip vermilion, A... OMIM:618330
Wiedemann-Steiner Syndrome
Rhizomelia, Hyperextensibility at elbow, Clinodactyly, Long philtrum, Intrauterine growth retarda... ORPHA:319182
Joubert Syndrome 23
Coloboma, Polydactyly OMIM:616490
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Lambotte Syndrome
Semilobar holoprosencephaly, Preaxial foot polydactyly, Intrauterine growth retardation, Narrow m... OMIM:245552
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Rachit... ORPHA:289157
Cerebrocostomandibular Syndrome
Posterior rib gap, Multicystic kidney dysplasia, Hydranencephaly, Tracheomalacia, Myelomeningocel... ORPHA:1393
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de... OMIM:235750
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... OMIM:616730
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Micrognathia, Narrow mouth, Ventricular septal defect, Crowded carpa... OMIM:102500
Distal Deletion 10Q
Clinodactyly, Lateral ventricle dilatation, Micrognathia, Atrial septal defect, Anal atresia, Hig... ORPHA:96148
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Lambert Syndrome
Intrauterine growth retardation, Wide mouth, Branchial anomaly, Inguinal hernia, Ventricular sept... ORPHA:1296
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac... OMIM:619636
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Intrauterine growth retardation, Patent foramen ovale, Ventricular sept... OMIM:620113
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Intrauterine growth retardation, Dilated cardiomyopathy, Increased susceptibility to spontaneous ... OMIM:618097
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ... OMIM:244300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Ventriculomegaly, Cleft lip, Duodenal atresia, Furrowed tongue, Intrauteri... OMIM:616975
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Abnormal thumb morphology OMIM:614082
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad thumb, Natal tooth, Carious teeth, Micrognathia, Ventricular septal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad thumb, Natal tooth, Carious teeth, Micrognathia, Ventricular septal ... ORPHA:353277
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Talipes equinovarus, ... OMIM:301056
Doors Syndrome
Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal ... ORPHA:79500
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Small hand, Ventriculomegaly, Abnormality of the dentition, Long philtrum, Joint hyp... OMIM:300968
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Joint stiffness, Joint hypermobility, Ventricular septal defect, Coarctation of... OMIM:620210
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Congenital diaphragmatic hernia, Displacement of the urethral meatus, Esop... ORPHA:95706
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Horseshoe kidney, Abnormal dental morphology, Hypophosphatemic rickets, Hyperphosphat... OMIM:163200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Neonatal death, Hydronephrosis, Persistent left sup... OMIM:314390
Digeorge Syndrome
Interrupted aortic arch, Unilateral renal agenesis, Right aortic arch with mirror image branching... OMIM:188400
Koolen-De Vries Syndrome
Aortic root aneurysm, Open mouth, Narrow palm, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:610443
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Downturned corners of mouth, Intrauterine growth retardation, Micro... ORPHA:2075
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Inguinal hernia, Short ribs, Hydronephrosis, Missing ribs, Rib fusion... OMIM:271520
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Micrognathia, Congenital diaphragmatic hernia, V... OMIM:615524
Cornelia De Lange Syndrome 1
Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, Dislocated radial head,... OMIM:122470
Cohen Syndrome
Finger syndactyly, Genu valgum, Micrognathia, Open mouth, Mitral valve prolapse, Narrow palm, Ara... ORPHA:193
Frank-Ter Haar Syndrome
Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Talipes... OMIM:249420
Lateral Meningocele Syndrome
Keloids, Dental crowding, Long philtrum, Umbilical hernia, Sclerosis of skull base, Micrognathia,... OMIM:130720
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Finger syndactyly, Open bite, Micrognathia, Foot polydactyly, High ... ORPHA:2750
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Sandal gap, Long philtrum, Micrognathia, Thick vermilion border, Single transver... OMIM:617061
Hypocalcemic Vitamin D-Resistant Rickets
Abnormality of the dentition, Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abn... ORPHA:93160
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Avascular necrosis of ... ORPHA:1901
Tarp Syndrome
Finger syndactyly, Clinodactyly, Micrognathia, Talipes equinovarus, Atrial septal defect, Pierre-... ORPHA:2886
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Anal atresia, Hypospadias... OMIM:305450
Weiss-Kruszka Syndrome
Ventriculomegaly, Horizontal crus of helix, Dextrotransposition of the great arteries, Single tra... OMIM:618619
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Micrognathia, Ventricular septal defect, Abnormal metacarpal morphology, Atrial sep... OMIM:268300
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Tooth malposition, Aortic root aneurysm, Elbow dislocation, Prominent veins on trunk,... ORPHA:536532
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil... OMIM:190351
Wolf-Hirschhorn Syndrome
Micrognathia, Ventricular septal defect, Talipes equinovarus, Radioulnar synostosis, Short hallux... OMIM:194190
Coach Syndrome 2
Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Ventriculomegaly, Anteriorly placed anus, Tetralogy of Fallot, Renal insufficiency, ... OMIM:617159
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Lateral ventricle dilatation, Ventricular septal defect, Bicuspid aortic va... OMIM:607872
Short Stature-Micrognathia Syndrome
Rhizomelia, Broad femoral neck, Intrauterine growth retardation, Micrognathia, Ventricular septal... OMIM:617164
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, B... OMIM:609192
Pontocerebellar Hypoplasia, Type 11
Talipes equinovarus, Anal atresia, Coloboma OMIM:617695
Auriculocondylar Syndrome 2B
Long penis, Micrognathia, Narrow mouth, Mandibular condyle hypoplasia, Omphalocele OMIM:620458
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Encephalocele, High palate, Anal atresia, Hypospadias, Myelome... ORPHA:2052
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Syngap1-Related Developmental And Epileptic Encephalopathy
Wide mouth, Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Hypospadias ORPHA:544254
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Long philtrum, Joint stiffness, Micrognathia, Jejunal atresia, Chordee, Colpocepha... OMIM:618820
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ... OMIM:614262
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Horseshoe kidney, Micrognathia, Chromosomal breakage induced by crossl... OMIM:613951
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Umbilical hernia, Abnormality of the ureter, Bilateral single transverse palmar crea... ORPHA:1770
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Umbilical hernia, Dilated fourth ventricle, Intrauterine growth ret... OMIM:617751
19P13.3 Microduplication Syndrome
Clinodactyly, Intrauterine growth retardation, Micrognathia, Narrow mouth, Thick vermilion border... ORPHA:447980
Neu-Laxova Syndrome
Osteopenia, Bifid uvula, Ventriculomegaly, Rickets, Micromelia, Osteomalacia, Intrauterine growth... ORPHA:2671
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... OMIM:601559
Leopard Syndrome 1
Unilateral renal agenesis, Pectus carinatum, Hypertrophic cardiomyopathy, Complete atrioventricul... OMIM:151100
Basel-Vanagaite-Smirin-Yosef Syndrome
Pectus carinatum, Ventriculomegaly, Furrowed tongue, Tented upper lip vermilion, Inguinal hernia,... OMIM:616449
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... OMIM:611717
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Ventricular septal defect, At... ORPHA:289
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Intrauterine growth retardation,... OMIM:618651
Cat Eye Syndrome
Chorioretinal coloboma, Micrognathia, Ventricular septal defect, Atrial septal defect, Rectal atr... OMIM:115470
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper lip vermilio... ORPHA:313781
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Ventriculomegaly, Abnormal heart morphology, Micrognathia, Congenit... ORPHA:261197
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Ventricular septal defect, Hernia, Bicuspid aortic valve, Atrial septal de... ORPHA:363705
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal OMIM:112410
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Hypospadias, S... ORPHA:2438
Bohring-Opitz Syndrome
Overlapping toe, Micrognathia, Narrow mouth, Ventricular septal defect, Bilateral cleft palate, A... OMIM:605039
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Omphalocele, Cleft palate ORPHA:2736
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Iris coloboma, Peripheral pulmonary artery stenosis, Short thumb, Overlappin... ORPHA:436003
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Contractures of the large joints, Lateral ventricle dilatation, Dilat... ORPHA:3078
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis... OMIM:271700
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Congenital diaphragmatic hernia, Ventricular septal defect, ... OMIM:617602
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Skraban-Deardorff Syndrome
Ventriculomegaly, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Micrognathi... OMIM:617616
Coffin-Siris Syndrome 7
Downturned corners of mouth, Thick lower lip vermilion, Wide mouth, Patent foramen ovale, Ventric... OMIM:618027
Pde4D Haploinsufficiency Syndrome
Micrognathia, Broad phalanx, Bilateral coxa valga, Hypospadias, Short metacarpal, Cone-shaped epi... ORPHA:439822
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300554
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Congen... ORPHA:818
8Q12 Microduplication Syndrome
Long philtrum, Vesicoureteral reflux, Narrow mouth, Ventricular septal defect, Atrial septal defe... ORPHA:228399
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Oligodontia, Thin upper lip vermilion... OMIM:616331
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p... OMIM:608227
Wiedemann-Steiner Syndrome
Short 5th finger, Small hand, Short toe, Long philtrum, Long hallux, Contracture of the distal in... OMIM:605130
Wolf-Hirschhorn Syndrome
Micrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Talipes equinovarus, Hernia, Short... ORPHA:280
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... OMIM:618164
Au-Kline Syndrome
Chronic kidney disease, Aortic root aneurysm, Overlapping toe, Open mouth, Lipomyelomeningocele, ... OMIM:616580
Renpenning Syndrome 1
Joint contracture of the hand, Micrognathia, Narrow mouth, Death in childhood, Ventricular septal... OMIM:309500
Kury-Isidor Syndrome
Finger syndactyly, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Ventricular se... OMIM:619762
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventriculomegaly, Ectrodactyly, Umbilica... OMIM:308205
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transpos... OMIM:231060
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Missing ribs, Talipes equinovarus, Tracheoesophageal fistula, Esophageal atresia,... OMIM:619859
Li-Campeau Syndrome
Patellar hypoplasia, Long philtrum, Single transverse palmar crease, Ventricular septal defect, P... OMIM:619189
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Polydactyly, ... ORPHA:531151
Ulnar-Mammary Syndrome
Ventricular septal defect, Abnormal metacarpal morphology, Sprengel anomaly, Aplasia/Hypoplasia o... ORPHA:3138
Cerebrooculonasal Syndrome
Narrow palate, Ventriculomegaly, Downturned corners of mouth, Long philtrum, Encephalocele, Posta... OMIM:605627
Smith-Mccort Dysplasia 2
Pectus carinatum, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged i... OMIM:615222
Nephronophthisis 15
Nephronophthisis, Polydactyly OMIM:614845
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Cleft soft palate, Reduced subcutaneous adipose tissue, Ventricular septal ... OMIM:615582
Oculoauriculofrontonasal Syndrome
Cleft lip, Micrognathia, Narrow mouth, Encephalocele, Pericallosal lipoma, Ventricular septal def... ORPHA:398156
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... OMIM:143095
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Tooth malposition, Bifid femur, Failure of eruption of permanent teeth, Elbow ... ORPHA:2769
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Short Stature, Brussels Type
Delayed epiphyseal ossification, Narrow chest, Microretrognathia, Horseshoe kidney, Calcification... ORPHA:2867
Meier-Gorlin Syndrome 7
Narrow mouth, Aplasia/Hypoplasia of the patella, Urethral stricture, Ventricular septal defect, A... OMIM:617063
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Generalized lipodystrophy, Stage 5 chronic kidney disease, Micrognathia, Decreas... OMIM:608612
Roifman-Chitayat Syndrome
Osteopenia, Ventriculomegaly, Cone-shaped epiphysis, Umbilical hernia, Thin lower lip vermilion, ... OMIM:613328
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Chorioretinal coloboma, Open mouth, V... OMIM:280000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Hypoplastic ischia, Hypospadias, Polydactyly OMIM:616910
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Chorde... OMIM:151050
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Genu valgum, Mitral valve... OMIM:615873
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Long philtrum, Moy... OMIM:300845
Enlarged Parietal Foramina
Broad thumb, Occipital encephalocele, Cleft lip, Myelomeningocele, Venous malformation, Abnormal ... ORPHA:60015
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Joint stiffness, Micrognathia, Long thorax, Displaceme... ORPHA:1752
Mycophenolate Mofetil Embryopathy
Tessier cleft, Iris coloboma, Tracheomalacia, Chorioretinal coloboma, Micrognathia, Congenital di... ORPHA:268249
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Renal co... OMIM:219730
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, High palate,... OMIM:166250
Marden-Walker Syndrome
Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Ventricular septal defect, Arachnodacty... ORPHA:2461
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Ventricular septal defect, Renal cyst, Duplication of phalanx of hallu... OMIM:263630
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Horseshoe kidn... OMIM:612562
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Ven... OMIM:256520
Spinal Muscular Atrophy, Type I
Atrial septal defect, Death in childhood, Ventricular septal defect OMIM:253300
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Aortic root aneurysm, Abnormal tibia morphology, Genu valgum, Micrognat... ORPHA:666
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology... ORPHA:1458
Acrocephalopolydactylous Dysplasia
Micromelia, Hypoplastic colon, Omphalocele, Postaxial hand polydactyly, Craniosynostosis, Hypopla... OMIM:200995
Teebi-Shaltout Syndrome
Aortic valve stenosis, Caudal appendage, Narrow mouth, Ventricular septal defect, Talipes equinov... OMIM:272950
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Ventricular septal defect, Talipes equinovarus... OMIM:150250
6Q Terminal Deletion Syndrome
High, narrow palate, Clinodactyly, Micrognathia, Phimosis, Joint hypermobility, Colpocephaly, Hal... ORPHA:75857
Myhre Syndrome
Craniofacial hyperostosis, Narrow mouth, Hypospadias, Epispadias, Abnormal penis morphology, Ingu... ORPHA:2588
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Dental malocclusion, Delayed eruption of teeth, Calvarial hyperostosis... OMIM:101800
Chromosome 5Q12 Deletion Syndrome
Long philtrum, Micrognathia, Patent foramen ovale, Ventricular septal defect, Long toe, Atrial se... OMIM:615668
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow mouth, Ventricular se... OMIM:300998
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Chorioretinal coloboma, Pseudoepiphyses of second meta... OMIM:107480
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Micrognathia, Bilateral single transverse p... ORPHA:1913
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Ventricular septal defect,... OMIM:608328
Dent Disease 1
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300009
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Cleft upper lip, Cervical ribs, Ventricular septal defect, Pectus excavatum, Hi... OMIM:609654
Osteopathia Striata-Cranial Sclerosis Syndrome
Asymmetry of the thorax, Aortic valve stenosis, High, narrow palate, High iliac wing, Coarse meta... ORPHA:2780
Joubert Syndrome 7
Nephronophthisis, Stage 5 chronic kidney disease, Genu valgum, Encephalocele, Postaxial polydacty... OMIM:611560
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,... ORPHA:3469
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia,... ORPHA:2256
Jansen-De Vries Syndrome
Small hand, Ventricular septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Brachydac... OMIM:617450
Trisomy X
Multicystic kidney dysplasia, Ventricular septal defect, Joint hypermobility, Atrial septal defec... ORPHA:3375
Adnp Syndrome
Urinary incontinence, Ventriculomegaly, Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, ... ORPHA:404448
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Abnormal sternum morphology, Camptodac... ORPHA:96167
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Ventri... OMIM:612946
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Pectus carinatum, Aortic root aneurysm, Open mouth, Ventricular septal defect, Arachnodactyly, Ta... OMIM:301039
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Ventriculomegaly, Chorioretinal coloboma, Abnormal heart morphology, Intrauterine ... ORPHA:494344
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventriculomegaly, Chorioretinal coloboma, Abnormal heart morphology, Abs... ORPHA:284169
Acromelic Frontonasal Dysostosis
Ventriculomegaly, Dilation of Virchow-Robin spaces, Short tibia, Patellar hypoplasia, Preaxial ha... OMIM:603671
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Peters-Plus Syndrome
Square pelvis bone, Micrognathia, Short lingual frenulum, Limited elbow movement, Ventricular sep... OMIM:261540
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Intrauterine growth retardation, Abnormal medulla... ORPHA:79243
Exstrophy-Epispadias Complex
Abnormality of the ureter, Abnormality of the abdominal wall, Urinary incontinence, Anal atresia,... ORPHA:322
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis,... ORPHA:2658
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Narrow mouth, Brachydactyly, Short phalanx of finger, Coxa valga OMIM:132450
Thauvin-Robinet-Faivre Syndrome
Retinal coloboma, Long hallux, Bifid ureter, Thick vermilion border, Inguinal hernia, Mitral valv... OMIM:617107
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Broad thumb, Dental crowding, Ascending tubular aorta aneurysm, Micrognathia, Open mouth, Ventric... OMIM:309520
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Everted upper lip vermilion, Umbilical hernia, Vesicoureteral reflux, Exaggerat... OMIM:615879
Ogden Syndrome
High, narrow palate, Ventriculomegaly, Microretrognathia, Broad hallux, Everted upper lip vermili... ORPHA:276432
Grange Syndrome
Arterial stenosis, Increased susceptibility to fractures, Ventricular septal defect, Patent ductu... ORPHA:79094
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Oligodontia,... OMIM:170390
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Open mouth, Hem... ORPHA:534
Beck-Fahrner Syndrome
Ventriculomegaly, Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, Joint hyper... OMIM:618798
Distal Duplication 5Q
Carious teeth, Absent thumb, Chorioretinal coloboma, Long philtrum, Micrognathia, Narrow mouth, V... ORPHA:96097
Raine Syndrome
Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bowing o... OMIM:259775
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Clinodactyly, Vesicoureteral reflux, Patent foramen ovale, Ventri... OMIM:614261
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Penile freckling, Intestinal polyposis, Multiple lipomas, Lymphoid nod... ORPHA:210548
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho... OMIM:215150
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Distal Deletion 3P
Ventriculomegaly, Downturned corners of mouth, Long philtrum, Umbilical hernia, Atrioventricular ... ORPHA:1620
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl... OMIM:615986
De Barsy Syndrome
Congenital hip dislocation, Osteopenia, Delayed eruption of teeth, Prominent veins on trunk, Umbi... ORPHA:2962
Retinitis Pigmentosa 89
Postaxial polydactyly, Bicuspid aortic valve, Esophageal varix OMIM:618955
Icf Syndrome
Abnormality of chromosome stability, Umbilical hernia, Micrognathia, Protruding tongue, Macroglos... ORPHA:2268
Chime Syndrome
Ventricular septal defect, Short foot, Hip dislocation, Aplasia/Hypoplasia of the phalanges of th... ORPHA:3474
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bicuspid aortic valve, Anal atresia, Coloboma OMIM:619318
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... ORPHA:2241
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Hypospadias, Du... ORPHA:464306
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Preaxial hand polydactyly, Micrognathia, Ventricular septal defect, Deep philtrum... OMIM:610536
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Broad thumb, Natal tooth, Carious teeth, Ventricular septal defect, Bicusp... ORPHA:353281
Mend Syndrome
Aortic valve stenosis, Microretrognathia, Broad hallux, Overlapping toe, Overlapping fingers, Cro... OMIM:300960
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Toe syndactyly, Micrognathia, Limited elbow movement, Ventricular septal defect, Bicu... OMIM:610759
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Limitation of... ORPHA:93259
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Osteopenia, Short toe, Umbilical hernia, Atrophic scars, Micrognathia, Gingiva... OMIM:225410
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Pectus carinatum, Cone-shaped epiphysis, Abnormality of the denti... ORPHA:77258
Mosaic Trisomy 16
Short forearm, Clinodactyly, Large placenta, Ventricular septal defect, Single coronary artery or... ORPHA:1708
1P36 Deletion Syndrome
Narrow mouth, Abnormal intestine morphology, Foot polydactyly, Short foot, Hypospadias, Patent du... ORPHA:1606
Chromosome 8Q22.1 Duplication Syndrome
Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint contracture of fing... OMIM:151200
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Clinodactyly, Downturned corners of mouth, Thick upper lip vermilion, Intrauterine growth retarda... OMIM:617360
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Pectus carinatum, Carpal synostosis, Elbow flexion contracture, Elbow contracture, Cutaneous fing... OMIM:178110
Lateral Meningocele Syndrome
High, narrow palate, Craniofacial hyperostosis, Dental crowding, Umbilical hernia, Micrognathia, ... ORPHA:2789
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Lateral ventricle dilatation, Dark urine, ... OMIM:619534
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Abnormality of the ureter, Vesicoureteral reflux, Ingui... ORPHA:93930
Weill-Marchesani Syndrome
Aortic valve stenosis, Limitation of joint mobility, Short thumb, Ventricular septal defect, Brac... ORPHA:3449
Spondylocostal Dysostosis 5
Pectus carinatum, Missing ribs, Supernumerary ribs, Vertebral fusion, Posterior rib fusion OMIM:122600
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Microretrognathia, Micrognathia, Decreased c... OMIM:619879
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Micrognathia, Atrial septal defect, Cleft palate, Accessory oral frenulum ORPHA:79113
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Narrow chest, Ventriculomegaly, Pancreatic lymphangiectasis, Microgna... ORPHA:1655
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Ventriculomegaly, Clinodactyly, Corneal scarring, Micrognathia, Vesicoureteral ... OMIM:618460
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Coloboma, Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral den... OMIM:617306
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Limitation of j... OMIM:607326
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Lateral ventricle dilatation, Long philtrum, Abnormal heart morpholog... ORPHA:457279
Floating-Harbor Syndrome
Carious teeth, Clinodactyly, Atrial septal defect, Broad fingertip, Celiac disease, Dislocated ra... ORPHA:2044
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Intrauterine growth retardation, Micrognathia, Inguinal hernia, Ventricular sep... ORPHA:166035
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Death in infancy, Ventricular septal defect, Neonatal death, Ectopic kidney, Cy... OMIM:613730
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Micrognathia, Short lingual frenulum, Congenital diaphragmatic hernia, Ven... ORPHA:96121
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d... ORPHA:2473
Marcus-Gunn Syndrome
Cleft lip, Abnormal heart morphology, Nephrolithiasis, Coloboma, Cleft palate ORPHA:91412
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Ventriculomegaly, Broad hallux, Open mouth, Inguinal hernia, Joint hyp... ORPHA:457284
Isolated Anencephaly
Intrauterine growth retardation, Cleft lip, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Trisomy 8P
Clinodactyly of the 2nd finger, Overlapping toe, Hernia, Dysplastic aortic valve, Short 1st metac... ORPHA:264450
Alagille Syndrome
Short distal phalanx of finger, Nephrotic syndrome, Peripheral pulmonary artery stenosis, Abnorma... ORPHA:52
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Pectus carinatum, Ventriculomegaly, Contractures of the large joints, Long philtrum, Micrognathia... OMIM:617527
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de... ORPHA:477817
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence... OMIM:268305
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis, Hypospadias OMIM:615985
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Rickets, Abnormal rib morphology, Osteomalacia, Abnormal tibia morp... ORPHA:249
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Mitral valve prolapse, Contracture of the proximal interph... OMIM:300166
Aymé-Gripp Syndrome
Reduced arm span, Limitation of joint mobility, Narrow mouth, Congenital diaphragmatic hernia, Ra... ORPHA:1272
Beckwith-Wiedemann Syndrome
Nephropathy, Large placenta, Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Diasta... ORPHA:116
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... ORPHA:980
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ventricular septal defec... OMIM:619995
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... OMIM:613759
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Hand clenching, High, narrow palate, Cleft lip, Camptodactyly of finger,... OMIM:616920
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Coloboma, Lipomas of eyelids OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Congenital contracture, Occipital encephalocele, Cleft upper lip, Micrognathia,... OMIM:236670
Sotos Syndrome
High, narrow palate, Narrow palate, Long metacarpals, Ventriculomegaly, Muscular ventricular sept... OMIM:117550
Warsaw Breakage Syndrome
Optic disc coloboma, Tetralogy of Fallot, Intrauterine growth retardation, Single transverse palm... OMIM:613398
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Short 5th toe, Cleft soft palate, Ventricular septal defect, Chordee, Iris... ORPHA:268261
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor... ORPHA:1782
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Intrauterine growth retardation, Micrognathia, Hypoplastic f... OMIM:300712
Den Hoed-De Boer-Voisin Syndrome
Small hand, Ventriculomegaly, Carious teeth, Sandal gap, Delayed eruption of teeth, Lateral ventr... OMIM:619229
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abnormal diaphysis morpholog... ORPHA:354
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia, Small hand, 11 pairs of ribs, Micrognathia, Absence of subcutaneous fat, Intrau... OMIM:620005
3Q29 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Aniridia, Ventricular septal defect, Ca... ORPHA:251038
Congenital Disorder Of Glycosylation, Type Iia
Abnormal rib cage morphology, Osteopenia, Slender long bone, Long philtrum, Diastema, Macrodontia... OMIM:212066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Coloboma, Hydrocephalus OMIM:615249
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l... OMIM:616898
Kleefstra Syndrome
Limitation of joint mobility, Ventricular septal defect, Hernia, Talipes equinovarus, Bicuspid ao... ORPHA:261494
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Lateral ventricle dilatation, Ventricular septal defect OMIM:616816
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Intrauterine growth retardation, Brachydactyly, Short metatarsal, Advanced... OMIM:614613
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Narrow chest, Intrauterine growth retardation, Ventricular se... OMIM:615102
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Chorioretinal coloboma, Ankyloglossia, Genu valgum, Ventricular septal defect, Hematuria, Talipes... OMIM:619475
Filippi Syndrome
Limitation of joint mobility, Finger syndactyly, Intrauterine growth retardation, Bilateral singl... ORPHA:3255
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Tetralogy of Fallot, Hand polydactyly, Everted lower li... ORPHA:2316
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Dilated cardiomyopathy, Long philtrum, Micrognathia, Wide mouth, Thick vermilio... ORPHA:261250
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Osteomalacia, Pathologic fracture, Medullary nephrocalcinosis, Hypophosphatemic ... ORPHA:157215
Maternal Phenylketonuria
Hypoplastic left heart, Clinodactyly, Long philtrum, Abnormal heart morphology, Tetralogy of Fall... ORPHA:2209
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
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Intervertebr... OMIM:619656
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Coronary artery fistula, Intrauterine growth retardation, Thin vermilion border,... OMIM:614294
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Mic... OMIM:620072
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Ventricular septal defect... ORPHA:457193
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Horseshoe kidney, Ventricular septal defect, Hydrocephalus, Hypospadias, Patent... OMIM:218350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Interrupted aortic arch, Bulbous tips of toes, Ventricular se... ORPHA:163979
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ventricular septal defect, At... OMIM:135900
Microphthalmia, Syndromic 3
Ventricular septal defect, Rib fusion, Supernumerary ribs, Missing ribs, Coloboma, Esophageal atr... OMIM:206900
Microlissencephaly-Micromelia Syndrome
Micromelia, Long philtrum, 11 pairs of ribs, Bilateral single transverse palmar creases, Adducted... ORPHA:50810
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, Ventricular septal defect, Talipes equinovarus, Atrial septal defect, High palate, ... OMIM:614866
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Umbilical hernia, Overlapping toe, Micrognathia, Inguinal hernia, Single ... OMIM:613884
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs... OMIM:149730
Joubert Syndrome 21
Occipital encephalocele, Bell-shaped thorax, Encephalocele, Short ribs, Renal cyst OMIM:615636
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Abnormal metacarpal morph... ORPHA:2636
Meckel Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preax... ORPHA:564
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Broad ribs, Joint stiffnes... OMIM:277600
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Abnormal heart morphology, Micrognathia, Tented upper lip vermilion, Polydactyly, Deep philtrum, ... ORPHA:314655
Degcags Syndrome
Chronic kidney disease, Toe syndactyly, Genu valgum, Micrognathia, Protruding tongue, Ventricular... OMIM:619488
Duane Retraction Syndrome
Iris coloboma, Chorioretinal coloboma, Preaxial hand polydactyly, Aniridia, Micrognathia, Talipes... ORPHA:233
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Ventriculomegaly, Dental malocclusion, Slende... OMIM:616202
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Ventriculomegaly, Foot joint contracture, Sle... ORPHA:444072
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Ablepharon Macrostomia Syndrome
Toe syndactyly, Umbilical hernia, Camptodactyly of finger, Microdontia, Omphalocele, Thin vermili... ORPHA:920
Woods Syndrome
Limited elbow extension, Single transverse palmar crease, Ventricular septal defect, Thin vermili... OMIM:615236
Distal Deletion 19P
Keloids, Umbilical hernia, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, L... ORPHA:96129
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Nicolaides-Baraitser Syndrome
Broad 2nd toe, Short lingual frenulum, Everted lower lip vermilion, Short metacarpal, High, narro... OMIM:601358
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Micrognathia, Ventricular septal defect, Atrial sept... OMIM:270400
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Long philtrum, Ventricular septal defect, Joint hypermobility, ... OMIM:616652
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, Bell-shaped thorax, Protruding tongue, Death in childhood, Ventricular septal defec... OMIM:214100
Phelan-Mcdermid Syndrome
Cellulitis, Ventriculomegaly, Dental malocclusion, Long philtrum, Widely spaced teeth, Micrognath... OMIM:606232
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Tooth malposition, Small hand, Limitation of joint mobility, Overlapping toe, Abnormality of the ... ORPHA:480880
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Craniofacial hyperostosis, Ventriculomegaly, Iris... ORPHA:2396
Senior-Loken Syndrome 9
Osteopenia, Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Hypoplasia of the femo... OMIM:616629
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Toe syndactyly, Branchial fistula, Optic disc coloboma, Camptodactyly ... ORPHA:261337
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Rectal atresi... ORPHA:2753
Joubert Syndrome 37
Joint hypermobility, Postaxial polydactyly, Hydronephrosis, Micropenis, High palate OMIM:619185
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Radial deviation of finger, Clinodactyly, Umbilical hernia, Widely-spaced maxillary central incis... OMIM:301040
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Abnormal mitochondrial shape, Methylmalonic aciduria, Hypertrophic cardi... ORPHA:17
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Bifid uvula, Renal hypoplasia, Toe syndactyly, Microglossia, Finger ... OMIM:607932
Chromosome 2Q37 Deletion Syndrome
Short toe, Type E brachydactyly, Subvalvular aortic stenosis, Short fourth metatarsal, Short phal... OMIM:600430
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Cleft lip, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu... OMIM:619343
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Osteomalacia, Camptodactyly of finger, Abnormal dental morphology, Joint ... ORPHA:2176
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long phi... OMIM:301022
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Oral leukoplakia, Intrauterine growth retardation, Pancoliti... OMIM:620133
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Cl... OMIM:214300
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Tali... ORPHA:500095
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Opsismodysplasia
Renal phosphate wasting, Rhizomelia, Metaphyseal cupping, Hypoplasia of the odontoid process, Nar... OMIM:258480
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ventriculomegaly, Carious teeth, Diastema, Intestinal malrotation, Mi... OMIM:244450
Neurocardiofaciodigital Syndrome
Lateral ventricle dilatation, Tetralogy of Fallot, Dilated fourth ventricle, Vesicoureteral reflu... OMIM:619869
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... OMIM:139210
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Fetal Akinesia Deformation Sequence 1
Thin ribs, Micrognathia, Narrow mouth, Hip contracture, Talipes equinovarus, Elbow ankylosis, Hig... OMIM:208150
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Ventriculomegaly, Hemiatrophy, Stippled calci... OMIM:302960
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Acromesomelic Dysplasia 1
Acromesomelia, Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Long hallux, ... OMIM:602875
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia, Death in childhood, Death in infancy, Ventricular septal defect, Hemat... OMIM:616901
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Solitary median maxillary central incisor, Torus... OMIM:147250
X Small Rings
Toe syndactyly, Aortic root aneurysm, Long philtrum, Upper limb undergrowth, Mitral stenosis, Low... ORPHA:96201
Radio-Tartaglia Syndrome
High, narrow palate, Dental crowding, Long philtrum, Micrognathia, Ventricular septal defect, Thi... OMIM:619312
N Syndrome
Abnormality of chromosome stability, Hypospadias OMIM:310465
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, R... OMIM:611561
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Nephrocalcinosis, Long penis, Dental crowding, Cardiomyopathy, Furr... ORPHA:769
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Finger syn... OMIM:620025
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mouth, Patellar aplasia, Per... OMIM:218600
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Frontometaphyseal Dysplasia 2
Broad thumb, Hip contracture, Talipes equinovarus, Bicuspid aortic valve, High palate, Dislocated... OMIM:617137
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippling, Talipes eq... ORPHA:86822
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Microretrognathia, Broad hallux, Dilated third ventricle, Retinal col... ORPHA:434179
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Anteriorly placed anus, Cutaneous finger syndactyly, Talipes equinovarus, Ventral... OMIM:200110
Phakomatosis Pigmentokeratotica
Hemiatrophy, Hypophosphatemic rickets, Unilateral renal hypoplasia, Coloboma, Spina bifida ORPHA:2874
Ogden Syndrome
Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Ventricular septal defect, ... OMIM:300855
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Long philtrum, Intrauterine growth retardation, Ventricular septal defect, Pulm... ORPHA:75389
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Nephronophthisis, Sandal gap, Narrow chest, Peripheral pulmonary ... OMIM:614099
Coffin-Lowry Syndrome
Open mouth, Everted lower lip vermilion, High palate, Rectal prolapse, Short metacarpal, Hyperext... OMIM:303600
Trichothiodystrophy
High, narrow palate, Osteopenia, Ventriculomegaly, Carious teeth, Cardiomyopathy, Umbilical herni... ORPHA:33364
Down Syndrome
Narrow mouth, Bilateral single transverse palmar creases, Protruding tongue, Ventricular septal d... ORPHA:870
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Ventricular septal defect, Small thenar eminence, Atrial septal defect, Hip disloca... OMIM:613458
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnodactyly, Knee osteoarthritis,... ORPHA:284984
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Micrognathia, Ventricular s... ORPHA:1727
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Narrow chest, Micromelia, Increased skull ossification, B... ORPHA:1422
Opitz Gbbb Syndrome
Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Rectourethral fistula, Vesicoureteral re... OMIM:300000
Zttk Syndrome
Small hand, Narrow mouth, Ventricular septal defect, Atrial septal defect, High palate, Short foo... OMIM:617140
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Micrognathia, Ventricular septal defect, Everted lower lip verm... OMIM:608670
Transcobalamin Deficiency
Acute kidney injury, Abnormality of chromosome stability, Methylmalonic aciduria ORPHA:859
Coffin-Siris Syndrome 4
Short 5th finger, Macroglossia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermi... OMIM:614609
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Thin upper li... OMIM:601005
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Stage 5 chronic kidney disease, Polydactyly, Brachydactyly, Short long bone OMIM:613819
Congenital Rubella Syndrome
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Abnormal metaph... ORPHA:290
Laurence-Moon Syndrome
Micropenis, Abnormality of the hand, Polydactyly OMIM:245800
Lig4 Syndrome
Abnormality of chromosome stability, Micrognathia, Thin vermilion border, Clinodactyly of the 5th... ORPHA:99812
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Keutel Syndrome
Pulmonary artery stenosis, Short distal phalanx of finger, Calcification of cartilage, Ventricula... ORPHA:85202
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Multiple lipomas, Coloboma, Lipomas of eyelids, Clinoda... ORPHA:2399
Dent Disease
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, H... ORPHA:1652
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sept... OMIM:301044
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis ORPHA:1198
Osteogenesis Imperfecta, Type Viii
Thin ribs, Dentinogenesis imperfecta, Osteopenia, Slender long bone, Radial bowing, Femoral bowin... OMIM:610915
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Costello Syndrome
Abnormality of the dentition, Ulnar deviation of finger, Thick lower lip vermilion, Abnormal dent... ORPHA:3071
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Atrioventricular canal defect, Micrognathia, Ventricular septal defect, Brachydactyly,... OMIM:619123
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Zellweger Syndrome
Multicystic kidney dysplasia, Epiphyseal stippling, Micrognathia, Death in infancy, Ventricular s... ORPHA:912
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Intrauterine gro... ORPHA:217346
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Wide mouth, Ventricular septal defect, Atrial septal defect, Pectus ... OMIM:615279
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney disease, Ventricular septal... OMIM:618719
Noonan Syndrome 2
Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial sep... OMIM:605275
Bardet-Biedl Syndrome 1
High, narrow palate, Postaxial foot polydactyly, Dental crowding, Radial deviation of finger, Pos... OMIM:209900
Trichohepatoneurodevelopmental Syndrome
Overlapping toe, Fibular bowing, Ventricular septal defect, Talipes equinovarus, Bilateral coxa v... OMIM:618268
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi... OMIM:619657
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... ORPHA:989
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Srd5A3-Cdg
Coloboma, Palmoplantar keratoderma ORPHA:324737
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s... OMIM:190685
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Townes-Brocks Syndrome
Broad thumb, Toe syndactyly, Chorioretinal coloboma, Atrial septal defect, Rectoperineal fistula,... ORPHA:857
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Duodenal atresia, ... OMIM:301043
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Horseshoe kidney, Micrognathia, Ventricular septal defect, Metaph... OMIM:250410
Cornelia De Lange Syndrome 6
Pectus carinatum, Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metaca... OMIM:620568
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... OMIM:228900
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Intrauterine growth retardation, Narrow mouth, ... ORPHA:1780
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Mic... OMIM:208085
X-Linked Lissencephaly With Abnormal Genitalia
Ventriculomegaly, Micrognathia, Death in infancy, Ventricular septal defect, Aganglionic megacolo... ORPHA:452
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Toe syndactyly, Cleft upper lip,... OMIM:100300
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal dysplasia, Abnormal bone ossification, Genu varum, Vascular tortuosity, Multiple join... ORPHA:99646
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Abnormality of the costochondral junction, Hypoplastic cervical v... ORPHA:79345
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Clinodactyly, Intrauterine growth retardation, Micrognathia, Narrow mouth, Single tra... OMIM:614114
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Multicystic kidney dysplasia, Elbow dislocation, Micrognathia, Bilate... ORPHA:199
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, Single t... OMIM:309801
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption ... ORPHA:289176
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Cardiomyopathy, Renal cortical cysts, Vesicoureteral reflux, Diastasis recti, N... OMIM:130650
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Tibial torsion, Camptodactyly of finger, Elbow flexion contracture, Azoospermia, Va... OMIM:602782
King-Denborough Syndrome
Joint hypermobility, Ventricular septal defect, Deep philtrum, High palate, Thoracic kyphosis OMIM:619542
Coffin-Siris Syndrome
Short 5th finger, Clinodactyly, Delayed eruption of teeth, Thick lower lip vermilion, Horseshoe k... ORPHA:1465
Noonan Syndrome 4
Dental malocclusion, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Wide mouth, Pectus... OMIM:610733
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Inguinal hernia, Ventricular septal defect, Smooth p... ORPHA:261190
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Anal atresia, Short foot, Hypospadias... ORPHA:709
Seckel Syndrome 9
Pulmonary artery hypoplasia, Ventriculomegaly, Intrauterine growth retardation, Micrognathia, Con... OMIM:616777
Atelis Syndrome 1
Carious teeth, Long philtrum, Ventricular septal defect, Atrial septal defect, High palate OMIM:620184
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Genu valgum, Micrognathi... OMIM:619472
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Death in infanc... OMIM:613404
Costello Syndrome
Micrognathia, Barrel-shaped chest, Limited elbow movement, Ventricular septal defect, Talipes equ... OMIM:218040
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Absent radius, Anal atresia, Shor... OMIM:181450
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Mosaic Trisomy 20
Craniofacial asymmetry, Narrow chest, Cleft lip, Clinodactyly, Horseshoe kidney, Intrauterine gro... ORPHA:1724
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Ankle flexion contracture, Ventriculomegaly, Sh... ORPHA:464311
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di... OMIM:613795
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Umbilical hernia,... OMIM:258315
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital diaphragmatic her... OMIM:614437
Combined Immunodeficiency-Enteropathy Spectrum
Jejunoileal ulceration, Intestinal malrotation, Intrauterine growth retardation, Ventricular sept... ORPHA:436252
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Cleft lip, Ventricular septal defect, Median cleft up... OMIM:619895
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Ventricular septal defect, S... OMIM:616268
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Ectrodactyly, Camptodactyly of finger, Oligodactyly, Abnormal dental enamel morpholo... ORPHA:2273
Meningioma
Neoplasm of the tongue, Chromosomal breakage induced by ionizing radiation, Hydrocephalus, Cerebr... ORPHA:2495
Moderate Hemophilia A
Gingival bleeding, Joint hemorrhage, Limitation of joint mobility, Subdural hemorrhage, Hip contr... ORPHA:169805
Restrictive Dermopathy 1
Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Narrow mouth, Neonatal ... OMIM:275210
Meacham Syndrome
Death in childhood, Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... OMIM:608978
Williams Syndrome
Synostosis of joints, Carious teeth, Dental malocclusion, Open bite, Genu valgum, Micrognathia, D... ORPHA:904
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Median pseudocleft lip, Micrognathia, Ventricular septal defect, Bicus... OMIM:616462
Rothmund-Thomson Syndrome Type 2
Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, High pala... ORPHA:221016
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, High palate, Hypoplastic a... OMIM:617506
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Horseshoe kidney, Talipes e... OMIM:612284
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Ventricular septal defect, Pectus excavatum, High palate, Iris coloboma, Pat... ORPHA:52055
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydacty... ORPHA:2211
Faciocardiomelic Syndrome
Osteopenia, Narrow chest, Dental malocclusion, Slender long bone, Long philtrum, Micrognathia, Hy... OMIM:612731
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Carious teeth, Osteomalacia, Pathologic fracture, Premature loss of p... OMIM:146300
Koolen-De Vries Syndrome Due To A Point Mutation
Open mouth, Hand muscle atrophy, Ventricular septal defect, Arachnodactyly, Bicuspid aortic valve... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Open mouth, Hand muscle atrophy, Ventricular septal defect, Arachnodactyly, Bicuspid aortic valve... ORPHA:363958
Congenital Disorder Of Glycosylation, Type Iq
Coloboma OMIM:612379
Pontocerebellar Hypoplasia, Type 8
Joint stiffness, Tented upper lip vermilion, Patent foramen ovale, Ventricular septal defect, Tal... OMIM:614961
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Dilated ... ORPHA:261183
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Umbilical hernia, Persistence of primary teeth, Ventricular septal defect, Hiatu... OMIM:619769
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hyperphosphaturia, Tooth abscess, Bowing of the legs ORPHA:89937
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of teeth, Widely spa... ORPHA:1071
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal... OMIM:216340
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Long philtrum, Abnormal tibia morphology, Abnormal heart morphol... ORPHA:363700
Nivelon-Nivelon-Mabille Syndrome
Narrow chest, Distal clavicular thinning, Micromelia, Optic disc coloboma, Bell-shaped thorax, Br... OMIM:600092
Spondylo-Ocular Syndrome
Long philtrum, Joint hypermobility, Ventricular septal defect, Thin vermilion border, Osteoporosi... ORPHA:85194
Noonan Syndrome 8
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar... OMIM:615355
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular se... OMIM:600460
Joubert Syndrome 39
Hypoplastic left heart, Occipital encephalocele, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Transaldolase Deficiency
Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Coarctation of ... OMIM:606003
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect OMIM:619083
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Chops Syndrome
High, narrow palate, Tracheomalacia, Downturned corners of mouth, Long philtrum, Horseshoe kidney... OMIM:616368
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia, Neonatal death OMIM:245650
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Long philtrum, 2-3 toe syndactyly, Coloboma, 3-4 finger syndactyly, Hypospadias OMIM:615877
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Intrauterine growth retardation, Clinodactyly of the 5t... OMIM:301030
Hypophosphatemic Bone Disease
Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Intrauterine growth retardation, Proximal renal tubular acidosis OMIM:615824
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperp... OMIM:615605
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Hors... OMIM:613680
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Ventricular septal defect, Hydronephro... OMIM:613001
X-Linked Intellectual Disability, Nascimento Type
Clubbing of toes, Peripheral pulmonary artery stenosis, Downturned corners of mouth, Tetralogy of... ORPHA:163956
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Micrognathia, Cleft soft palate, Reduced subcutaneous adipose tissu... OMIM:619503
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Micrognathia, Narrow mouth, Renal tubular acidosis, Inguinal hernia, Ventricular s... OMIM:613457
Noonan Syndrome 10
Pectus carinatum, Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricula... OMIM:616564
Maternal Uniparental Disomy Of Chromosome 2
Contractures of the large joints, Preaxial hand polydactyly, Intrauterine growth retardation, Ren... ORPHA:96179
Legius Syndrome
Abnormal sternum morphology, Male urethral meatus stenosis, Mitral valve prolapse, Nephrolithiasi... ORPHA:137605
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defe... OMIM:157800
Kabuki Syndrome 1
Anoperineal fistula, Lateral ventricle dilatation, Micrognathia, Ventricular septal defect, Atria... OMIM:147920
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Genu valgum, Ventricular septal defect, Hydronephrosis, Joint hypermobili... OMIM:617798
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sep... OMIM:618280
Craniotubular Dysplasia, Ikegawa Type
Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Broad ri... OMIM:619727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Ventriculomegaly, Occipital encephalocele, 11 pairs of ribs, Hydron... OMIM:615287
Kapur-Toriello Syndrome
Retinal coloboma, Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Orofaci... ORPHA:2328
Keutel Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia... OMIM:245150
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Cleft lip, Palmoplantar keratoderma, Selective tooth agenesis, Cleft upper lip, Wi... OMIM:106260
Riddle Syndrome
Enuresis nocturna, Intraventricular hemorrhage, Chromosomal breakage induced by ionizing radiatio... ORPHA:420741
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Situs inversus totalis, Absent outer dynein arms, Ventricular septal defect OMIM:616037
Senior-Loken Syndrome 8
Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Global glomerulosclerosis, Vascula... OMIM:616307
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Inguinal hernia, Hypoplasia of teeth, Paranasal sinus hypoplasia,... OMIM:603457
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Thick lower lip vermilion, Horseshoe kidney, Wide mouth, Vesicoureteral ref... OMIM:619103
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Cervi... ORPHA:2255
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Optic disc coloboma, Ventricular septal defect, Pectus excavatum, High palate, Iris ... OMIM:300472
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal ... OMIM:613309
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Osteopenia, Rickets, Glycosuria, Renal ... ORPHA:2088
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Talipes equinovarus, Ventricular septal defect OMIM:209770
Mgat2-Cdg
Osteopenia, Dental crowding, Abnormal heart morphology, Open mouth, Ventricular septal defect, Br... ORPHA:79329
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Toe syndactyly, Microretrognathia, Lipoma, Long philtrum, Short finger, Dilatation of the ventric... ORPHA:459070
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Abnormality of the dentition, Carious teeth, Del... ORPHA:221008
Noonan Syndrome 1
Clinodactyly, Micrognathia, Ventricular septal defect, Synovitis, Atrial septal defect, High pala... OMIM:163950
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial ... OMIM:249270
Williams-Beuren Syndrome
Open mouth, Mitral valve prolapse, Ventricular septal defect, Radioulnar synostosis, Bicuspid aor... OMIM:194050
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly OMIM:605231
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventriculomegaly, Tracheomalacia, Everted upper lip vermilion, Widely spaced teeth, Absent cupid'... ORPHA:513456
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Rickets, Death in childhood, Death in adolescence, Polyuria, Osteoporosis OMIM:560000
Goldberg-Shprintzen Syndrome
Small hand, Vesicoureteral reflux, Ventricular septal defect, Oligodontia, Aganglionic megacolon,... OMIM:609460
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Joint hypermobility, Ventricular septal defect, Wide mouth, Wide... OMIM:617635
Tetraamelia Syndrome 2
Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Ventricular septal defect, Bilateral clef... OMIM:618021
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Micrognathia, Death in infancy, Coloboma, Polyuria, Pericardial effusion OMIM:618183
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s... OMIM:300967
Feingold Syndrome 1
Interrupted aortic arch, Short thumb, Short toe, Duodenal atresia, Micrognathia, Thick vermilion ... OMIM:164280
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Proximal renal tubular... OMIM:309000
Diets-Jongmans Syndrome
Umbilical hernia, Wide mouth, Inguinal hernia, Congenital diaphragmatic hernia, Ventricular septa... OMIM:618846
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Narrow chest, Knee flexion contracture, Ventricular septal defect, Hyd... OMIM:620454
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Abnormality of the dentition, Rickets, Osteomalacia, Hypophosphatemic ri... OMIM:193100
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Prune belly, Increased overbite, Ventricular septal defect, Micropenis OMIM:618504
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Aortic root aneurysm, Micrognathia, Ventricular septal defect, High palate, Hypospadi... ORPHA:444077
Microphthalmia, Syndromic 5
Micropenis, Coloboma, Cleft palate, Joint hypermobility OMIM:610125
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Dentinogenesis imperfecta, Osteopenia, Periodontitis, Short toe, Hydronephr... OMIM:619269
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Omphalocele OMIM:248450
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Trichohepatoenteric Syndrome 1
Galactosuria, Bifid uvula, Long philtrum, Tetralogy of Fallot, Avascular necrosis of the capital ... OMIM:222470
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Ventricul... ORPHA:139466
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventr... OMIM:619575
Diamond-Blackfan Anemia
Cleft lip, Absent thumb, Short thumb, Abnormality of the thenar eminence, Horseshoe kidney, Abnor... ORPHA:124
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Proboscis Lateralis
Unilateral renal agenesis, Ventriculomegaly, Duplication of renal pelvis, Chorioretinal coloboma,... ORPHA:141099
Genitopatellar Syndrome
Multicystic kidney dysplasia, Micrognathia, Patellar aplasia, Hip contracture, Ventricular septal... OMIM:606170
Noonan Syndrome 3
Pectus carinatum, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, ... OMIM:609942
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Lateral ventricle dilatat... ORPHA:261552
Dihydropyrimidinase Deficiency
Elevated urinary thymine level, Elevated urinary dihydrothymine level, Talipes equinovarus, Short... OMIM:222748
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Corneal scarring, Intrauterine growth retardation, Open mouth, Ventricular septal... OMIM:614653
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Proteinuria, Atrial septal ... OMIM:619471
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... OMIM:613388
Mccune-Albright Syndrome
Renal phosphate wasting, Aneurysmal bone cyst, Dental malocclusion, Osteomalacia, Monostotic fibr... ORPHA:562
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Alkaptonuria
Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a... ORPHA:56
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Bifid sternum, Right aortic arch, Supraumbilical raphe OMIM:140850
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Hydronephrosis, Arthrogryposis m... OMIM:607598
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Secundum atrial septal defect, Intrauterine growth retardation, Ventricular se... OMIM:619909
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... OMIM:270100
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Culler-Jones Syndrome
Postaxial polydactyly, Cleft upper lip, Micropenis, Cleft palate OMIM:615849
Hardikar Syndrome
Cleft soft palate, Ventricular septal defect, Bilateral cleft palate, Atrial septal defect, Celia... OMIM:301068
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Occipital encephalocele, Genu valgum, Micrognathia, Ventricular sep... OMIM:164210
Early Infantile Epileptic Encephalopathy
Ureterocele, Short finger, Umbilical hernia, Broad phalanx of the toes, Ventricular septal defect... ORPHA:1934
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Inflammation of the large intes... ORPHA:110
Branchiooculofacial Syndrome
Micrognathia, Hypospadias, Iris coloboma, Atypical scarring of skin, Preaxial hand polydactyly, B... OMIM:113620
Paternal Uniparental Disomy Of Chromosome 6
Abdominal wall defect, Umbilical hernia, Intrauterine growth retardation, Micrognathia, Gingival ... ORPHA:96191
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Inguinal hernia, Ventricular septal def... OMIM:607721
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, En... ORPHA:47159
Alstrom Syndrome
Nephritis, Abnormality of the dentition, Dilated cardiomyopathy, Atherosclerosis, Renal insuffici... OMIM:203800
Methimazole Embryofetopathy
Intrauterine growth retardation, Abnormal aortic morphology, Ventricular septal defect, Coarctati... ORPHA:1923
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Hydronephrosis, Car... OMIM:614921
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,... OMIM:615989
Sotos Syndrome
Hip contracture, Ventricular septal defect, Talipes equinovarus, Atrial septal defect, Large hand... ORPHA:821
Shprintzen Omphalocele Syndrome
Thin vermilion border, Narrow chest, Anal atresia, Omphalocele OMIM:182210
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... OMIM:618901
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Rickets OMIM:602722
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ... ORPHA:210122
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Limitation of joint mobility, Calcification of cartilage, Osteoarthritis, Arth... ORPHA:1416
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Osteomalacia, Coronary artery ca... ORPHA:51608
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Carious teeth, Grade III vesicoureteral reflux, Ventricular septal defect, Urethral stricture, Ch... OMIM:619522
Choanal Atresia
Craniosynostosis, Tracheomalacia, Polydactyly ORPHA:137914
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Death in childhood, Ventricular septal def... OMIM:620609
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypospadias, Im... OMIM:211380
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Dental crowding, Synostosis involving the 1st metacarpal, Widely spaced teet... ORPHA:466791
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Ventricular septal defect, Hematuria, Overriding aorta, Patent d... OMIM:617021
Autosomal Dominant Keratitis
Aniridia, Coloboma ORPHA:2334
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Distal renal tubular acidosis, Rickets OMIM:611590
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Ventriculomegaly, Coronary artery fistula, Ventricular septal defect, ... OMIM:620024
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Rickets OMIM:607748
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Long philtrum, Dilated fourth ventricle, Exaggerated cupid's bow, Ventricular septal defect, Thin... OMIM:619306
Celiac Disease, Susceptibility To, 1
Rickets, Celiac disease, Recurrent aphthous stomatitis, Abnormality of the abdominal wall, Enamel... OMIM:212750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Dilatation of the cerebral artery, Intestinal malrotation, Intrauterine grow... OMIM:613658
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Micrognathia, Bilateral sing... ORPHA:3047
Cystinosis
Nephropathy, Aminoaciduria, Rickets, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Adult-Onset Still Disease
Proteinuria, Arthritis, Arthralgia/arthritis, Myocarditis, Cartilage destruction, Pericarditis ORPHA:829
Mowat-Wilson Syndrome
Tooth malposition, Chorioretinal coloboma, Ventricular septal defect, Atrial septal defect, Iris ... OMIM:235730
Omphalocele Syndrome, Shprintzen-Goldberg Type
Thin upper lip vermilion, Anal atresia, Downturned corners of mouth, Omphalocele ORPHA:3164
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... OMIM:134600
Diamond-Blackfan Anemia 12
Triphalangeal thumb, Ventricular septal defect OMIM:615550
Combined Oxidative Phosphorylation Deficiency 15
Small hand, Inguinal hernia, Single transverse palmar crease, Ventricular septal defect, Ventricu... OMIM:614947
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s... OMIM:302350
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Palmoplantar keratoderma, Cleft lip, Myofiber disarray, Patent foramen ov... OMIM:620519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Micrognathia, Coloboma, Hydrocephalus, Everted lower lip vermilion OMIM:253280
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Crossed fus... ORPHA:3097
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Volvulus, Intestinal malrotation, Overlapping toe, Ventricular septal defect, Proteinuria, Hiatus... OMIM:616682
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Renal Tubular Acidosis Iii
Nephrocalcinosis, Rickets, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Dark urine, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Peripheral ... OMIM:118450
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Fat malabsorption, Rickets OMIM:211600
Hypomagnesemia 3, Renal
Chronic kidney disease, Genu valgum, Hypomature enamel, Hematuria, Macroscopic hematuria, Short m... OMIM:248250
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Rachitic rosary, Rickets, Glycosuria, Low-molecular-wei... OMIM:219800
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Osteomalacia, Pathologic fracture, Distal renal tubular acidosis, Impaired urin... OMIM:179800
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcification of the aorta, H... OMIM:208060
Axial Osteomalacia
Renal cyst, Increased bone mineral density, Osteomalacia OMIM:109130
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Lymphedema-Distichiasis Syndrome
Cellulitis, Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Varico... OMIM:153400
Nijmegen Breakage Syndrome
Anal stenosis, Abnormality of chromosome stability, Deep philtrum, Anal atresia, Pollakisuria, No... ORPHA:647
Renal Tubular Acidosis, Proximal
Osteomalacia, Hypercalciuria, Rickets, Proximal renal tubular acidosis OMIM:179830
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Bifid uvula, Sandal gap, Long philtrum, Umbilical hernia, Ventricular septal de... OMIM:620330
Noonan Syndrome 9
Coarctation of aorta, Hydroureter, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Syndromic Diarrhea
Renal hypoplasia, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of F... ORPHA:84064
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricular septal d... OMIM:611812
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Barrel-shaped chest, Tibi... OMIM:259770
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Median cleft palate, Abnormal digit morphology, Polydactyly, Osteoporosis of vertebra... ORPHA:95494
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Histiocytoid Cardiomyopathy
Stroke-like episode, Ventricular septal defect, Cardiomegaly, Renal cyst, Hydrocephalus, Cleft pa... ORPHA:137675
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Ventriculomegaly, Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricul... OMIM:620066
Transketolase Deficiency
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... ORPHA:488618
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Rachitic rosary, Rickets, Hypophosphatemic rickets OMIM:612089
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Flared metaphysis, Ventricular septal defect, Thickened cor... OMIM:620558
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Osteomalacia, Rickets... OMIM:227810
Criss-Cross Heart
Abnormal thorax morphology, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal... ORPHA:1461
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventriculomegaly, Microretrognathia, Joint hypermobility, Ventricular septal defect, High palate OMIM:619418
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Tracheomalacia, Abnormal heart morphology, Tetralogy of Fal... ORPHA:95430
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti... ORPHA:29207
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Pectus carinatum, Narrow chest, Tetralogy of Fallot, Ankyloglossia, Microgn... OMIM:619525
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Fat malabsorption, Rickets OMIM:607765
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Osteomalacia, Low-molecular-weigh... ORPHA:18
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypocalciuria, Chondrocalcinosis, Multiple small medullary renal cysts, Osteomalaci... OMIM:600740
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Anterior Segment Dysgenesis 2
Aniridia, Coloboma OMIM:610256
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Osteopenia, Abnormal heart morphology, Vesicoureteral... ORPHA:438213
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Recurrent fractures OMIM:268315
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow palate, Dental malocclusion, Broad ... OMIM:614188
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Renal Agenesis
Unilateral renal agenesis, Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Pro... ORPHA:411709
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, Nephrolithiasis, Left... OMIM:615474
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Wilson Disease
Aminoaciduria, Chondrocalcinosis, Glycosuria, Osteomalacia, Hyperphosphaturia, Renal tubular dysf... OMIM:277900
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Oro... ORPHA:3427
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Liver Disease, Severe Congenital
Aminoaciduria, Protein-losing enteropathy, Umbilical hernia, Dilatation of the ventricular cavity... OMIM:619991
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Long philtrum, Micrognathia, Patent foramen ovale, Ventricular septal... OMIM:619268
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage, Esophagitis ORPHA:3348
Johanson-Blizzard Syndrome
Death in childhood, Ventricular septal defect, Atrial septal defect, Anal atresia, Rectovaginal f... OMIM:243800
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Penile Agenesis
Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Cloacal abnormality, Hydron... ORPHA:49
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Duodenal stenosis, Abnormal stomac... ORPHA:141127
Eisenmenger Syndrome
Bacterial endocarditis, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular canal de... ORPHA:97214
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Colitis, Steatorrhea, Osteoporosis ORPHA:309031
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Osteomala... ORPHA:3337
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Long philtrum, Inguinal hernia, Uterine prolapse, Ventricul... OMIM:123700
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Rickets OMIM:219900
Infantile Nephropathic Cystinosis
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tu... ORPHA:411629
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Hypocalciuria, Chondrocalcinosis, Hypomagnesiuria, Osteomalacia, Nephrolithiasis, P... ORPHA:405
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Osteomalacia, Osteomyelitis, Villous atrophy, Oral ulcer, Gastritis, Arthrit... OMIM:619381
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri... OMIM:618748
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ccp110

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ccp110.

No publications found that use IMPC mice or data for Ccp110.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ccp110tm385602(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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