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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Polydactyly, Abnormal cardiac septum morphology, Abnormal thorax morphology, Upper limb phocomeli... ORPHA:294975
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic iliac wing, Genu varum, Genu valgum, Flexion contracture, Metaphyseal irregularity, C... OMIM:613330
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... OMIM:156530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Ventriculomegaly, Ventricular septal defect... OMIM:615630
Pallister-Hall-Like Syndrome
Short ribs, Toe syndactyly, Death in infancy, Micrognathia, Hydrocephalus, Hip dislocation, Media... OMIM:241800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Thoracic hypoplasia, Ventriculomegaly, Micrognathia, Short femur, Hypertroph... OMIM:616897
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ... OMIM:607778
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect, Narrow chest, Micrognathia, Short philtrum, Downturned cor... ORPHA:93267
Orofaciodigital Syndrome Xviii
Urinary incontinence, Genu valgum, Short philtrum, Diastema, Cervical ribs, Brachydactyly, Single... OMIM:617927
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Cleft palate, Short palm, Narrow g... OMIM:228520
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Thoracic dysplasia, Median cleft lip, Holoprosencephaly, Limb undergrowth, Short... OMIM:269860
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Death in infancy, Narrow chest, Postaxial foot polydactyly, Lateral ... OMIM:617405
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Increas... ORPHA:90652
Short Rib-Polydactyly Syndrome
Horizontal ribs, Short tibia, Absent or minimally ossified vertebral bodies, Polydactyly, Thoraci... ORPHA:1505
Triploidy
Meningocele, Non-midline cleft lip, Finger syndactyly, Wide mouth, Abnormal cardiac septum morpho... ORPHA:3376
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Short tibia, Bifid tongue, Unicoronal synostosis, Cleft palate, Narrow greater s... OMIM:616300
Emanuel Syndrome
Multiple joint contractures, Ectopic anus, Delayed eruption of teeth, Ventriculomegaly, Micrognat... ORPHA:96170
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Micrognathia, Cleft palate, Ventricular septal defect, Hydr... OMIM:609029
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Hydranencephaly, Short ... OMIM:601355
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Thoracic hypoplasia, Ventriculomegaly, Short ribs, Radial bowing, Polycystic ... OMIM:617866
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Micrognathia, Clubbing of fingers, Limb undergrowth, Cleft palate, Talipes e... ORPHA:1865
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Bell-shaped thorax, Hernia, Abnormality of the elbow, Rhizomelia, Short... ORPHA:1842
Carpenter Syndrome 1
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... OMIM:201000
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Truncus arteriosus, Ventricular septal defect, Joint laxity, Atrial septal defect,... ORPHA:401935
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Cleft palate, Omphalo... ORPHA:945
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Schneckenbecken Dysplasia
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Anter... OMIM:269250
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Coloboma, Ventricular septal defect, Micrognathia, Pulmonic stenos... OMIM:220210
Trisomy 1Q
Camptodactyly of finger, Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megau... ORPHA:261344
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Micrognathia, Short di... ORPHA:2516
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Ventriculomegaly, Ventricular septal defect, Microgna... ORPHA:1388
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Coloboma, Ventriculomegaly, ... ORPHA:508498
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... ORPHA:168549
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... ORPHA:2092
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Long philtrum, Hypoplastic ilia, Short ribs, Hypoplasia of ... OMIM:617895
3C Syndrome
Atrioventricular canal defect, Ventriculomegaly, Ectopic anus, Micrognathia, Iris coloboma, Cleft... ORPHA:7
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Encephalocele, Joint contracture of the hand, Short ribs, ... OMIM:224400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Anterior encephalocele, Foot oligodactyly, Bilateral cleft lip, Coloboma, Ventri... OMIM:601357
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, I... ORPHA:2839
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Short uvula, Cleft palate, ... OMIM:614091
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Narrow chest, Micrognathia, Generalized osteos... OMIM:215045
Fanconi Anemia, Complementation Group O
Absent thumb, Death in infancy, Stage 5 chronic kidney disease, Hypoplasia of the radius, Anal at... OMIM:613390
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, High palate, Crossed fused renal ectopia, Ventricular septal defect, Hy... OMIM:618142
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... ORPHA:2141
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, Mesomelic/rhizome... ORPHA:2347
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:1263
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Abnormal cardiac septum morphology, ... ORPHA:2484
Ellis-Van Creveld Syndrome
Horizontal ribs, Delayed eruption of teeth, Postaxial hand polydactyly, Talipes equinovarus, Hypo... OMIM:225500
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Short ribs, Inguinal hernia, Sti... OMIM:600972
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Short long bone, Hyd... OMIM:187600
Atelosteogenesis Type Ii
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... ORPHA:56304
Thoracomelic Dysplasia
Bell-shaped thorax, Genu valgum, Short ribs, Abnormal pelvic girdle bone morphology, Elbow disloc... ORPHA:1803
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... OMIM:215140
Pseudotrisomy 13 Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Encephalocele, Ventricular septal defect, ... OMIM:264480
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Coloboma, Preaxial polydactyly ORPHA:141333
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Mosaic Trisomy 1
Camptodactyly of finger, Renal cortical cysts, Lateral ventricle dilatation, 2-3 finger syndactyl... ORPHA:1692
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Hydrocephalus, Cleft palate, Omphalocele OMIM:258320
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Atrial septal defect, Congenital diaph... OMIM:616546
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pectus excavatum, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Patent foramen ovale, D... OMIM:618316
Otopalatodigital Syndrome, Type I
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Selective tooth agene... OMIM:311300
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Short long bone, Short ribs, Coarse metaphyseal trabecularization, Limb... OMIM:618961
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Joint contracture of the hand, ... OMIM:136760
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Elbow contracture, Pectus excavatum, Broad hallux, Short hallux, Po... OMIM:304120
Weaver Syndrome
Coxa valga, Ventriculomegaly, Lateral ventricle dilatation, Camptodactyly, Metatarsus adductus, O... OMIM:277590
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Wide-cupped costochondral junctions, Flar... OMIM:187601
Three M Syndrome 1
Short thorax, Short 5th finger, Long philtrum, Short ribs, Thick lower lip vermilion, Slender lon... OMIM:273750
Basal Cell Nevus Syndrome 1
Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the ... OMIM:109400
Achondrogenesis Type 2
Abnormal bone ossification, Pierre-Robin sequence, Hypoplastic ilia, Short ribs, Delayed vertebra... ORPHA:93296
Dysosteosclerosis
Short diaphyses, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypoplastic vertebr... OMIM:224300
Distal Trisomy 15Q
Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Anal atresia, Joint stiffness,... ORPHA:1707
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... OMIM:173800
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Postaxi... OMIM:603194
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Talipes equinovarus, Beaded ribs, H... OMIM:200600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Bifid tongue, Thoracic hypoplasia, Lateral clavicle hook, Cleft palate, Talipes ... OMIM:613091
Acrocardiofacial Syndrome
Camptodactyly of finger, Hallux valgus, Truncus arteriosus, Toe syndactyly, Cleft palate, Ventric... ORPHA:2008
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Micrognathia, Bifid uvula, Camptodactyly, Fibular aplasia, Pectus exc... OMIM:300373
Pentalogy Of Cantrell
Abnormal pericardium morphology, Non-midline cleft lip, Abnormal sternum morphology, Encephalocel... ORPHA:1335
Hyperparathyroidism, Transient Neonatal
Patent ductus arteriosus, Recurrent fractures, Ventriculomegaly, Short ribs, Short long bone, Enl... OMIM:618188
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, High palate, Micrognathia, Camptodactyly, Neonatal death, Arthr... OMIM:618393
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Lateral ventricle dilatation, Thoracic dysplasia, Median cleft lip, Lateral clav... OMIM:263520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Renal cortical cysts, Thoracic hypoplasia, Ventriculomegaly... ORPHA:397715
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p... ORPHA:261330
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Abnormally ossified vertebrae, Radial bowing, Micrognathia, Lower limb under... ORPHA:3035
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Wide anterior fontanel, Abnormal metaphysis morpholo... ORPHA:2021
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morphology, Micrognathia, Epip... OMIM:308050
Hypophosphatasia, Infantile
Increased susceptibility to fractures, Phosphoethanolaminuria, Elevated urine pyrophosphate, Meta... OMIM:241500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Flexion contracture, Spinal dysraphism, Coxa valga, Thoracic hypoplasia, Micrognathi... ORPHA:96334
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Coloboma, Toe syndactyly, Bullet-shaped distal phalanx o... ORPHA:1617
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Pectus excavatum, Preaxial polydactyly... OMIM:605967
Lethal Congenital Contracture Syndrome 10
Stiff neck, High palate, Narrow palate, Long philtrum, Short long bone, Ventricular septal defect... OMIM:617022
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Myelomeningocele, Enlarged thorax, M... ORPHA:66637
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Micrognathia, Lateral clavicle hook, Cleft palate, Narrow greater s... OMIM:617925
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Limb undergrowth, Metaphyseal irregularity, Short... OMIM:151210
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Ventriculomegaly, Joint contracture of the hand, Preaxial foot polydac... OMIM:175700
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... ORPHA:1801
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Ventriculomegaly, Micrognathia, Median cleft lip, Holoprosencephaly, F... OMIM:612651
Abruzzo-Erickson Syndrome
Short toe, Coloboma, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atrial sep... ORPHA:921
Prieto Syndrome
11 pairs of ribs, Coxa valga, Clinodactyly, Inguinal hernia, Radial deviation of finger, Osteopor... OMIM:309610
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Bell-shaped thorax, Metaphyseal cupping, Vascular dilatation, Deep philtru... OMIM:613320
Femoral-Facial Syndrome
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... OMIM:134780
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short phalanx of finger, Thoracic hypoplasia, Ventriculomegaly, Microdontia, Micrognathia, Bifid ... OMIM:266920
15Q24 Microdeletion Syndrome
Coloboma, Smooth philtrum, Intestinal atresia, Narrow mouth, Proximal placement of thumb, Myelome... ORPHA:94065
Achondrogenesis, Type Ii
Horizontal ribs, Hypoplastic iliac wing, Long philtrum, Short tubular bones of the hand, Short ri... OMIM:200610
Trisomy 18
Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Holoprosencephaly, Iris colob... ORPHA:3380
C Syndrome
Renal cortical cysts, Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial head, Radi... OMIM:211750
Achondroplasia
Genu varum, Thoracic hypoplasia, Generalized joint laxity, Short femoral neck, Short ribs, Death ... OMIM:100800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, High palate, Short ribs, Elbow flexion contracture, Cu... ORPHA:1145
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Pect... OMIM:600920
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Atrioventricular canal defect, Patent ductus arteriosus, Preaxial hand polyd... ORPHA:1120
Vacterl/Vater Association
Non-midline cleft lip, Multicystic kidney dysplasia, Preaxial hand polydactyly, Finger syndactyly... ORPHA:887
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, High palate, Pierre-Robin sequence, Long philtrum, Short 5th metacar... OMIM:617877
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Wide anterior fontanel, Short long bone, Micrognathia, Polycystic kidney dys... OMIM:263210
Poland Syndrome
Spina bifida occulta, Abnormal rib morphology, Absent hand, Reduced bone mineral density, Absence... ORPHA:2911
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... OMIM:614524
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Overlapping toe, Broa... OMIM:154400
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob... OMIM:607323
Fryns Syndrome
Non-midline cleft lip, Ventriculomegaly, Ectopic anus, Abnormal cardiac septum morphology, Microg... ORPHA:2059
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Chromosome 9P Deletion Syndrome
Tapered finger, Micrognathia, Clinodactyly of the 5th toe, Thin vermilion border, Narrow palate, ... OMIM:158170
Noonan Syndrome 12
11 pairs of ribs, Ventriculomegaly, Ventricular septal defect, Pectus excavatum, Anteriorly place... OMIM:618624
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Flexion contracture, Thoracic hypoplasia, Camptodactyly, Pectus excava... ORPHA:254528
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
2-3 toe syndactyly, Tapered finger, Hallux valgus, Coloboma, Ventriculomegaly, Micrognathia, Pect... OMIM:618659
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Kagami-Ogata Syndrome
Patent ductus arteriosus, Bell-shaped thorax, Flexion contracture, Diastasis recti, Long philtrum... OMIM:608149
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Coloboma, Absent distal pha... OMIM:120400
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Microdontia, Micrognathia, Camptodactyly, Elbow dislocation, Abs... OMIM:224690
Focal Dermal Hypoplasia
Short phalanx of finger, Bifid ureter, Short 4th metacarpal, Delayed eruption of teeth, Toe synda... OMIM:305600
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Microdontia, Elbow flexion contracture, Mi... OMIM:245600
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Short palm, Genu valgum, Metaphyseal irregularity, Short ribs, Broad phalanx,... OMIM:250420
Adams-Oliver Syndrome 6
Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Syndactyly, B... OMIM:616589
Femoral-Facial Syndrome
Ventriculomegaly, Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, T... ORPHA:1988
Fetal Encasement Syndrome
Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic hernia, Horseshoe kidney... OMIM:613630
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... ORPHA:380
Chromosome 10Q26 Deletion Syndrome
Toe syndactyly, Micrognathia, Pectus excavatum, 2-3 toe cutaneous syndactyly, Radial deviation of... OMIM:609625
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid... ORPHA:508488
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Patent foramen ovale, Patent ductus arteriosus, Rhizomelia, Short ribs, Hypoplasia o... OMIM:607143
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Increased susceptibility to fractures, Double outlet right ventricle, Abnormal hand morphology, V... ORPHA:371428
Acrocallosal Syndrome
Tapered finger, Everted upper lip vermilion, Coloboma, Abnormal cardiac septum morphology, Toe sy... OMIM:200990
Cleidocranial Dysplasia 1
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... OMIM:119600
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Arthritis... ORPHA:1937
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Phalangeal dislocation, Omphalocele, Talipes equinovarus ORPHA:85174
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Cleft soft palate, Long philtrum, Micrognathia, Bicuspid aortic valve, Prominent ... OMIM:618529
3Mc Syndrome 1
Short 5th finger, Abnormality of the abdominal wall, Spina bifida occulta, Cleft palate, Lambdoid... OMIM:257920
Cranioectodermal Dysplasia 1
Stage 1 chronic kidney disease, Microdontia, Pectus excavatum, Everted lower lip vermilion, Radia... OMIM:218330
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate, Intrauterine growth ... OMIM:611867
Oculocerebrocutaneous Syndrome
Finger syndactyly, Wide mouth, Ventriculomegaly, Hydrocephalus, Missing ribs, Hand polydactyly, C... ORPHA:1647
Marshall-Smith Syndrome
Irregular dentition, Hallux valgus, Ventriculomegaly, Microdontia, Pectus excavatum, Slender fing... OMIM:602535
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Nail-Patella Syndrome
Biceps aplasia, Triceps aplasia, Pectus excavatum, Glomerulonephritis, Absent distal interphalang... OMIM:161200
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Coloboma, Wide mouth, Ventricular septal defect, ... ORPHA:329224
Acropectoral Syndrome
Abnormal thorax morphology, Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Meckel Syndrome, Type 1
Camptodactyly of finger, Ventriculomegaly, Abnormal cardiac septum morphology, Micrognathia, Abno... OMIM:249000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hernia, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Joint laxity, Sy... OMIM:602501
Cooper-Jabs Syndrome
Camptodactyly of finger, Ventricular septal defect, Missing ribs, Congenital diaphragmatic hernia... ORPHA:1488
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventriculomegaly, Micrognathia, 2-3 toe cutaneous syndactyly, Smooth philtrum, Cleft palate, Opti... OMIM:618454
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Hydrocephalus, Missing ribs, Anal atresia, Abnormal pelvic girdle bone morphology, ... ORPHA:1834
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... OMIM:174400
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, 2-3 toe syndactyly, Absent thumb, Truncus arteriosus, Ventricular septa... OMIM:617516
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Bilateral talipes equinovarus, Right ... OMIM:306955
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pseudoarthrosis, Short ribs, Pectus excavatum OMIM:618155
Ivic Syndrome
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... OMIM:147750
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney ... ORPHA:2538
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Micr... OMIM:156400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short ribs, Short long bone, Thoracic dysplasia, Femoral bowing, Synda... OMIM:615503
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Lateral ventricle dilatation, Micrognathia, Elbow flexion contracture, Hip d... OMIM:210710
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals, In... OMIM:618724
Donnai-Barrow Syndrome
Wide anterior fontanel, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmat... ORPHA:2143
Orofaciodigital Syndrome Xiv
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... OMIM:615948
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Codas Syndrome
Short phalanx of finger, Atrioventricular canal defect, Ventriculomegaly, Delayed eruption of tee... OMIM:600373
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... OMIM:217095
Fryns Syndrome
Thoracic hypoplasia, Camptodactyly, Cleft palate, Aplasia of the left hemidiaphragm, Rocker botto... OMIM:229850
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... OMIM:250220
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Hydrocephalus, Distal ... OMIM:300863
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Ventriculomegaly, Micrognathia, Pectus excavatum, Elbow dislocation, Abn... ORPHA:2462
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Pectus excavatum, Cer... OMIM:312870
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly ORPHA:64754
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Tapered finger, Coloboma, Ventriculomegaly, Toe syndactyly, Micrognathia... ORPHA:251014
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Absent thumb, Patent foramen ovale, Ventricular septal defect, Short 1st m... OMIM:609053
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Abnormal rib morphology, Cleft palate,... ORPHA:373
Miller-Dieker Syndrome
Nephropathy, Omphalocele, Clinodactyly of the 5th finger, Abnormal upper lip morphology ORPHA:531
22Q11.2 Deletion Syndrome
Meningocele, Truncus arteriosus, Abnormal thorax morphology, Micrognathia, Retinal arteriolar tor... ORPHA:567
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Radial deviation of the hand, Mesomelic leg shortening, Long philtrum, Cl... ORPHA:2756
Robinow Syndrome, Autosomal Dominant 3
Short phalanx of finger, Bifid tongue, Micrognathia, Camptodactyly, Cleft palate, Gingival overgr... OMIM:616894
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Bell-shaped thorax, Coxa vara, Short fe... OMIM:602557
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Short tibia, Cleft upper lip, Polydactyly, Encephalocele, Pate... OMIM:603671
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly, Ventricular septal defect, Clinodactyly of the 5th finger, Dilated cardiomyopat... ORPHA:2515
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... OMIM:277170
Joubert Syndrome 18
Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Talipes equinovarus, Camptodactyly,... OMIM:614815
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Short phalanx of finger, Thoracic dysplasia, Early ossification of capital femor... OMIM:208500
Orofaciodigital Syndrome Xvii
Polydactyly, Ventriculomegaly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of ... OMIM:617926
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Intestinal malrotation, Congenital diaphragmatic ... OMIM:601163
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Bent Bone Dysplasia Syndrome 2
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof, Intrauterine growth retardation OMIM:613676
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Rhizomelia... ORPHA:3098
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... OMIM:108720
Joubert Syndrome 14
Meningocele, Encephalocele, Coloboma, Ventricular septal defect, Hydrocephalus, Short philtrum, D... OMIM:614424
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Anal atresia, Prune belly, Cervical ribs, Sprengel anomaly, Renal hypo... OMIM:601389
Campomelic Dysplasia
Irregular dentition, Short phalanx of finger, Spinal dysraphism, Thoracic hypoplasia, Hallux valg... OMIM:114290
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Fragile X Syndrome
Mitral valve prolapse, Joint laxity, Pectus excavatum, Metacarpophalangeal joint hyperextensibili... OMIM:300624
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... OMIM:309350
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Abnormal sternum morphology, Ventricular septal defect, Short ribs, Atr... ORPHA:2519
Robinow Syndrome, Autosomal Recessive 1
Bifid tongue, Micrognathia, Pectus excavatum, Dislocated radial head, Radial deviation of finger,... OMIM:268310
Cranioectodermal Dysplasia 2
Horizontal ribs, Polydactyly, Microdontia, Micrognathia, Pectus excavatum, Everted lower lip verm... OMIM:613610
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, Hypoplasia of pen... ORPHA:2166
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... ORPHA:1354
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Knee flexion contracture, Preaxial hand polydactyly, Long philtrum, Thin upper lip vermilion, Int... OMIM:606242
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Micrognathia, Missing ri... OMIM:251230
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Meningocele, Missing ribs, Duodenal stenosis, Intestinal malrotation, De... ORPHA:1759
Hydrolethalus Syndrome 2
Ventriculomegaly, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Micrognathia, Postaxial ... OMIM:614120
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Irregular chondrocostal junctions, S... OMIM:187760
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Aplastic clavicle, Long philtrum, Natal tooth, Short ribs, Short metacarpal,... ORPHA:50945
Donnai-Barrow Syndrome
Short sternum, Non-acidotic proximal tubulopathy, Wide anterior fontanel, Ventricular septal defe... OMIM:222448
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Congenital dia... ORPHA:63862
Abruzzo-Erickson Syndrome
Cleft palate, Hypospadias, Radioulnar synostosis, Coloboma OMIM:302905
Holoprosencephaly
Spinal dysraphism, Median cleft lip, Holoprosencephaly, Iris coloboma, Tooth agenesis, Cyclopia, ... ORPHA:2162
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Short ribs, Pectus excavatum OMIM:187750
Joubert Syndrome 16
Polydactyly, Encephalocele, Coloboma, Renal cyst, Nephronophthisis, Dandy-Walker malformation OMIM:614465
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal metaphysis morphology, Narrow... ORPHA:2635
Opitz Gbbb Syndrome
Ventriculomegaly, Ectopic anus, Micrognathia, Cleft palate, Aortic root aneurysm, Vesicoureteral ... ORPHA:2745
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Submucous cleft har... ORPHA:3426
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Orofaciodigital Syndrome Type 6
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Micrognathia, Mesoaxial polydact... ORPHA:2754
Miller-Dieker Lissencephaly Syndrome
Thick upper lip vermilion, Polydactyly, Joint contracture of the hand, Delayed eruption of teeth,... OMIM:247200
Meckel Syndrome, Type 10
Dilated fourth ventricle, Ulnar deviation of the hand, Anencephaly, Bifid uvula, Camptodactyly, D... OMIM:614175
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Ventricular septal defect, T... ORPHA:261120
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Micropenis, Brachydactyly OMIM:615983
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Sagittal craniosynostosis, Long philtrum, Natal tooth, Small hand, Coronal ... OMIM:145420
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Unilateral vertebral artery... OMIM:613686
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Clinodactyly, Proximal placement o... OMIM:617883
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Omphalocele, Macroglossia, Delayed eruption of teeth OMIM:614450
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus, Hypoplasia of the ... ORPHA:3186
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Short thumb, Triangular shaped phalanges of the ... OMIM:618167
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Jacobsen Syndrome
Abnormality of the anus, Ectopic anus, Ventriculomegaly, Toe syndactyly, Hip dislocation, Iris co... ORPHA:2308
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Ventricular septal defect, Abnorm... ORPHA:254534
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventriculomegaly, Micrognathia, Posterior rib fusion, Pulmonary ar... OMIM:265380
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Coloboma, Microdontia, Micrognathia, Broad hallux, Slender f... ORPHA:251028
Verheij Syndrome
Vertebral fusion, Short 5th finger, Long philtrum, Coloboma, Abnormal cardiac septum morphology, ... OMIM:615583
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus, Iris coloboma OMIM:210350
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,... OMIM:227646
Stromme Syndrome
Jejunal atresia, Wide mouth, Micrognathia, Hydrocephalus, Intestinal malrotation, Iris coloboma, ... OMIM:243605
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Enamel hypoplasia, Tracheobronchomalacia, Patent foramen ovale, Pierre-Robin se... OMIM:619184
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 5th toe, Short 5th finger, Short 3rd toe, Short 4th toe, Short 2nd toe, Chromosomal breakag... OMIM:619060
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... OMIM:615297
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Patent ductus arteriosus, Ventricular septal defect, Deep philtrum, Wi... OMIM:619717
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ventriculomegaly, Hydrocephalus, Occipital encephalocele, Orofacial cleft ORPHA:324416
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Short tibia, Triphalangeal thumb, High palate, Absent forearm, Wide anterior fo... OMIM:201170
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... ORPHA:93284
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Bell-shaped thorax, Thoracic hypoplasia, Delaye... OMIM:608022
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short mid... ORPHA:391646
Feingold Syndrome 2
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... OMIM:614326
Mohr Syndrome
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Pectus excavatum,... OMIM:252100
Iniencephaly
Spinal dysraphism, Mandibular aplasia, Holoprosencephaly, Arthrogryposis multiplex congenita, Tal... ORPHA:63259
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventriculomegaly, Joint contracture of t... OMIM:179613
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Cartilage-Hair Hypoplasia
Spinal dysraphism, Abnormal cardiac septum morphology, Abnormal distal phalanx morphology of fing... ORPHA:175
Schinzel-Giedion Midface Retraction Syndrome
Ventriculomegaly, Thickened cortex of long bones, Postaxial hand polydactyly, Sclerosis of skull ... OMIM:269150
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Pulmonary artery atresia... OMIM:601186
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Bilateral talipes equinovarus, Esophageal atresia, Micrognathia... OMIM:614083
Suleiman-El-Hattab Syndrome
Polydactyly, Patent foramen ovale, High palate, Long philtrum, Wide mouth, Ventricular septal def... OMIM:618950
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Encephalocele, Pericardial effusion, Enlarged kidney, Polycystic ki... OMIM:613885
Holt-Oram Syndrome
Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog... ORPHA:392
Mullegama-Klein-Martinez Syndrome
Polydactyly, Long philtrum, Abnormal cardiac septum morphology, Micrognathia, Short philtrum, Cli... OMIM:301022
Constricting Bands, Congenital
Cleft upper lip, Encephalocele, Gastroschisis, Hand polydactyly, Ectopia cordis, Abnormal rib cag... OMIM:217100
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency OMIM:615991
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Ascending tubular aorta aneurysm, Truncus arteriosus, Microdontia, Micrognathia, Bifid uvula, Cam... OMIM:612474
Fetal Minoxidil Syndrome
Micrognathia, Clinodactyly of the 5th finger, Ventricular septal defect, Umbilical hernia ORPHA:1918
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Knee flexion contracture, 11 pairs of ribs, Hip contracture, Long philtrum, Micrognathia, Elbow f... OMIM:616266
Kniest Dysplasia
Genu varum, Dumbbell-shaped long bone, Hip contracture, Splayed epiphyses, Coxa vara, Rhizomelia,... OMIM:156550
Syndactyly-Polydactyly-Earlobe Syndrome
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... OMIM:186350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... OMIM:271640
Alg9-Cdg
Pericardial effusion, Micrognathia, Abnormal left ventricular outflow tract morphology, Bifid uvu... ORPHA:79328
Hydrolethalus Syndrome 1
Severe hydrocephalus, Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defec... OMIM:236680
Fetal Valproate Spectrum Disorder
Long philtrum, Downturned corners of mouth, Narrow mouth, Thin vermilion border, Omphalocele ORPHA:1906
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Atrioventricular canal defect, Patent ductus arteriosus, Postaxial polydactyly, ... OMIM:617088
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Femoral bowing, Hypertrophic cardiom... OMIM:615415
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Mes... ORPHA:97360
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Meier-Gorlin Syndrome 3
Genu varum, Short thorax, Patellar hypoplasia, Coxa vara, Patellar aplasia, Short ribs, Slender l... OMIM:613803
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Gastro... ORPHA:2476
Bardet-Biedl Syndrome 10
Renal cyst, Polydactyly, Renal insufficiency OMIM:615987
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalo... ORPHA:1908
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Clinodactyly of the 2nd finger, Coxa valga, Short foot, Wide pubic symphysis, V... OMIM:620073
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Microcolon, Hypoplastic tricuspid valve, Cervical ribs, Pulmonary artery sten... OMIM:600001
Trigonocephaly 1
Long philtrum, High, narrow palate, Long penis, Meckel diverticulum, Omphalocele, Craniosynostosis OMIM:190440
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Microphthalmia, Isolated 4
Coloboma, Postaxial polydactyly OMIM:613094
Mucolipidosis Iii Alpha/Beta
Short ribs, Craniosynostosis, Short long bone, Irregular carpal bones, Carpal bone hypoplasia, So... OMIM:252600
Brachydactyly, Type B1
Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Joint contracture of the hand, Shor... OMIM:113000
Seckel Syndrome 1
Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated ra... OMIM:210600
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Ventricular septal defect, Bifid uvula, Hydrocephalus, Dandy-Walker mal... OMIM:612938
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Death in infancy, Interrupted aortic arch, Atrial ... OMIM:617478
Carpenter Syndrome 2
Camptodactyly, Pectus excavatum, Talipes equinovarus, Narrow palate, Atrial septal defect, Dextro... OMIM:614976
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Keloids, Increased b... ORPHA:166119
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Death in infancy, Bifid humerus, Micrognathia, Flat acetabular roof, Talipes... OMIM:256050
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Limb undergrowth, Cleft... OMIM:263650
Nemaline Myopathy 9
High palate, Ventricular septal defect, Micrognathia, Narrow chest, Cleft palate, Arthrogryposis ... OMIM:615731
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Missing ribs, Posterior rib fusion, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:1797
Odontochondrodysplasia 1
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Nephronophthisis, Dentinog... OMIM:184260
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Micrognathia, Hydrocephalus, Missing ribs, Anal atresia, Tetraameli... ORPHA:3301
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Epiphyseal stippling, Glossoptosis, Death in infancy OMIM:614876
Pelger-Huet Anomaly
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Ventricular sept... OMIM:169400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Absent or minimally ossified vertebral bodies, Bifid tongue, Ventriculomegaly, Ectopic anus, Micr... ORPHA:93271
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, Posterior rib ga... OMIM:117650
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Clinodactyly, Syndactyly, Iris coloboma, Brachydactyly OMIM:610023
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Carpenter Syndrome
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... ORPHA:65759
Trisomy 4P
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Hypospadias, Abnormal palat... ORPHA:1738
Campomelic Dysplasia
11 pairs of ribs, Tracheobronchomalacia, Recurrent fractures, Ventriculomegaly, Short long bone, ... ORPHA:140
Vater/Vacterl Association
Patent urachus, Abnormal rib morphology, Vesicoureteral reflux, Ventricular septal defect, Esopha... OMIM:192350
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Missing r... ORPHA:2759
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Absent thumb, Abnormality of chromosome stability, Ventriculomegaly, Es... OMIM:300514
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Short phalanx of finger, Perianal abscess, Long philtrum, Wide mouth, Small hand, Pericardial eff... OMIM:614684
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Micr... OMIM:609945
Jacobsen Syndrome
Flexion contracture, Ventricular septal defect, Micrognathia, Pyloric stenosis, Hydrocephalus, Mi... OMIM:147791
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Large hands, Orofacial cleft ORPHA:85287
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Abnormal vertebral segmentat... ORPHA:2345
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Narrow mouth, Posta... ORPHA:83473
Scimitar Syndrome
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... ORPHA:185
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Coloboma, Wide mouth, Clinodactyly, Macroglossia, Everted lower lip vermili... OMIM:616789
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... ORPHA:79106
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect, Death in infancy, Hydrocephalus, Dandy-Walker mal... OMIM:147800
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Thoracoabdominal Syndrome
Patent ductus arteriosus, Cleft upper lip, Ventral hernia, Anencephaly, Hydrocephalus, Ectopia co... OMIM:313850
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Narrow c... ORPHA:3144
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Ventriculomegaly, Hydrocephalus, Left ventricular hypertrophy, Death in childhood, Dand... OMIM:613153
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Short toe, Long philtrum, Finger syndactyly, Ventricular septal defect,... ORPHA:1519
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Ventriculomegaly, Everted lower lip vermilion, Cleft palate, Gingival overgrowt... OMIM:220500
Seckel Syndrome 5
11 pairs of ribs, Enamel hypoplasia, High palate, Selective tooth agenesis, Hypodontia, Oligodont... OMIM:613823
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular sep... ORPHA:1166
3P25.3 Microdeletion Syndrome
Tapered finger, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, Cleft palate,... ORPHA:435638
Fanconi Anemia, Complementation Group C
Absent thumb, Flexion contracture, Complete duplication of thumb phalanx, Ventricular septal defe... OMIM:227645
Cree Mental Retardation Syndrome
Cleft soft palate, Coloboma, Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the... OMIM:606851
Trisomy 13
Median cleft lip, Abnormality of the ureter, Iris coloboma, Postaxial hand polydactyly, Abnormal ... ORPHA:3378
Fanconi Anemia
Ventriculomegaly, Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syn... ORPHA:84
Kabuki Syndrome
Lip pit, Short 5th finger, Coloboma, Ventriculomegaly, Abnormal cardiac septum morphology, Microd... ORPHA:2322
Epiphyseal Dysplasia, Multiple, 1
Short phalanx of finger, Broad femoral neck, Genu valgum, Generalized joint laxity, Avascular nec... OMIM:132400
Cdags Syndrome
Sagittal craniosynostosis, Short ribs, Coronal craniosynostosis, Anal atresia, Hypospadias, Short... OMIM:603116
Martsolf Syndrome 1
Short phalanx of finger, Ventriculomegaly, Finger joint hypermobility, Micrognathia, Pectus excav... OMIM:212720
Charge Syndrome
Coloboma, Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Iris coloboma, Abnormal... OMIM:214800
Apert Syndrome
Ventriculomegaly, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus, Bifid uvula, ... OMIM:101200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Ventriculomegaly, Finger joint hypermobility, Pectus excavatum, Limited elbow... OMIM:618870
Caudal Regression Syndrome
Vesicoureteral reflux, Renal insufficiency, Arrhinencephaly, Missing ribs, Anal atresia, Abnormal... ORPHA:3027
Tarp Syndrome
Short sternum, High palate, Tongue nodules, Hypoplasia of the radius, Micrognathia, Clinodactyly,... OMIM:311900
Intellectual Developmental Disorder, Autosomal Dominant 36
Ventriculomegaly, Hip dysplasia, Hydrocephalus, Unilateral renal agenesis, Deviation of the 5th f... OMIM:616362
Fanconi Anemia, Complementation Group D1
Anal atresia, Short thumb, Chromosomal breakage induced by crosslinking agents, Intrauterine grow... OMIM:605724
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Micrognathia, Pectus excavat... ORPHA:1507
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Deep palmar crease, Coloboma OMIM:600251
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Bifi... OMIM:612350
Multiple Osteochondromas
Coxa valga, Abnormal carpal morphology, Limb undergrowth, Intestinal obstruction, Genu valgum, Ab... ORPHA:321
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Caudal Duplication
Myelomeningocele, Spina bifida, Intestinal duplication, Omphalocele, Ureteral duplication, Abnorm... ORPHA:1756
Tetrasomy 9P
Abnormal cardiac septum morphology, Micrognathia, Bifid uvula, Pericarditis, Oligospermia, Cleft ... ORPHA:3310
Chromosome 6Pter-P24 Deletion Syndrome
Pectus excavatum, Rocker bottom foot, Patent foramen ovale, Ventricular septal defect, Hip dyspla... OMIM:612582
Brachydactyly-Preaxial Hallux Varus Syndrome
Preaxial hand polydactyly, Radial club hand, Short metacarpal, Micrognathia, Abnormal palate morp... ORPHA:1278
Truncus Arteriosus
Truncus arteriosus, Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery steno... ORPHA:3384
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Ventriculomegaly, Ventricular septal defect, Hypoplasia of penis, Hypoplasti... ORPHA:2772
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate OMIM:300484
Desbuquois Syndrome
Camptodactyly of finger, Bell-shaped thorax, Aplasia/Hypoplasia of the abdominal wall musculature... ORPHA:1425
Hallermann-Streiff Syndrome
Recurrent fractures, Natal tooth, Short ribs, Short foot, Small hand, Micrognathia, Clinodactyly ... ORPHA:2108
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Long philtrum, Microretrognathia, Thin upper lip vermilion, Limb undergrowth... OMIM:619124
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... OMIM:177170
Mosaic Trisomy 9
Camptodactyly of finger, Ventriculomegaly, Micrognathia, Hip dislocation, Elbow dislocation, Clef... ORPHA:99776
Fanconi Anemia, Complementation Group J
Short thumb, Chromosomal breakage induced by crosslinking agents, Intrauterine growth retardation OMIM:609054
16P13.11 Microduplication Syndrome
Ventricular septal defect, Transposition of the great arteries, Hand polydactyly, Atrial septal d... ORPHA:261243
Joubert Syndrome 22
2-3 toe syndactyly, Coloboma, Postaxial foot polydactyly, Postaxial hand polydactyly, Renal hypop... OMIM:615665
Mmep Syndrome
Triphalangeal thumb, Ventricular septal defect, Median cleft lip, Split foot, Orofacial cleft ORPHA:3434
Acromicric Dysplasia
Short phalanx of finger, Long philtrum, Deep philtrum, Short foot, Thick lower lip vermilion, Sho... OMIM:102370
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Coloboma, Bifid uvula, Furrowed ... ORPHA:453499
Cloacal Exstrophy
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Hydroureter, Talipes equinovarus, Hypoplas... ORPHA:93929
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Pectus excavatum, Epiphyseal dysplasia, I... OMIM:607131
Acro-Renal-Ocular Syndrome
Coloboma, Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Iris coloboma, Optic d... ORPHA:959
Rubinstein-Taybi Syndrome 1
Polydactyly, Flexion contracture, Coloboma, Micrognathia, Flared iliac wing, Pectus excavatum, Sp... OMIM:180849
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short thorax, Short metacarpal, Widely spaced teeth, Angel-shaped phalan... OMIM:617102
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Ever... OMIM:249670
Omphalocele
Omphalocele ORPHA:660
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:615996
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Ventricular septal defect, Pulmon... ORPHA:2876
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly OMIM:615984
Radial-Renal Syndrome
Absent thumb, Unilateral renal agenesis, Ectopic kidney, Absent radius, Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group E
Absent thumb, Complete duplication of thumb phalanx, Ectopic kidney, Prolonged G2 phase of cell c... OMIM:600901
Limb Body Wall Complex
Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Broad hallux, Abnormal int... ORPHA:2369
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... OMIM:615633
Braddock Syndrome
Preaxial hand polydactyly, Micrognathia, Missing ribs, Unilateral renal agenesis, Pectus excavatu... ORPHA:52047
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Bell-shaped thorax, Diastasis recti, Coxa valga, Thoracic hypoplasia, M... ORPHA:254519
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Vesicoureteral reflux, Patellar hypoplasia, Long philtrum, Coloboma, Short fourth metatarsal, Bra... ORPHA:464288
Gillespie Syndrome
Truncus arteriosus, Ventriculomegaly, Aniridia OMIM:206700
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis OMIM:618356
Multiple Epiphyseal Dysplasia Type 4
Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,... ORPHA:93307
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Orofaciodigital Syndrome Xi
Cleft palate, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Bardet-Biedl Syndrome 16
Stage 5 chronic kidney disease, Polydactyly, Renal insufficiency, Renal cyst OMIM:615993
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Diastasis recti, Long philtrum, Ventriculomegaly, Neurogeni... ORPHA:488632
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, ... ORPHA:63260
Ollier Disease
Multiple enchondromatosis, Osteolysis, Micromelia, Abnormal metaphysis morphology, Joint stiffnes... ORPHA:296
Periventricular Nodular Heterotopia 7
Knee flexion contracture, 2-3 toe syndactyly, 1-4 toe syndactyly, Pierre-Robin sequence, Ventricu... OMIM:617201
Fanconi Anemia, Complementation Group A
Absent thumb, Complete duplication of thumb phalanx, Ectopic kidney, Prolonged G2 phase of cell c... OMIM:227650
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, High palate, Ventricular septal defect, Broad alveolar ridges, Clinoda... OMIM:314320
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Short philtrum, Camptodactyly,... OMIM:300963
Branchio-Oculo-Facial Syndrome
Non-midline cleft lip, Multicystic kidney dysplasia, High palate, Preaxial hand polydactyly, Uppe... ORPHA:1297
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Diastasis recti, High palate, Clinodactyly of the 5th finger, Upper limb asymmetry, ... ORPHA:231140
Oculodentodigital Dysplasia
Camptodactyly of finger, Non-midline cleft lip, Toe syndactyly, Micrognathia, Taurodontia, Median... ORPHA:2710
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Ventriculomegaly, Deep philtrum, Widely spaced teeth, Ventricular s... OMIM:612530
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventriculomegaly, Ventricular septal defect, Clinodactyly of the 5th fi... OMIM:618974
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Hydroc... ORPHA:77298
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Enamel hypoplasia, Proximal tubulopathy, Ventriculomegaly, Ventricular ... OMIM:614576
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Iris coloboma,... ORPHA:2712
Meckel Syndrome, Type 3
Polydactyly, Multicystic kidney dysplasia, Hydrocephalus, Postaxial foot polydactyly, Postaxial h... OMIM:607361
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip dislocation, Abnormality of the uret... OMIM:200980
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Tracheobronchomalacia, Short 5th finger, Ventricu... ORPHA:500159
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Syndactyly, Brachydactyly, Abnormality of the dentition OMIM:615982
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Enamel hypoplasia, Enlargement of the costochondral junction, Bulging of the co... OMIM:264700
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Vesicoureteral reflux, Absent thumb, Microphallus, 2-3 finger syndactyl... OMIM:603467
Holoprosencephaly 7
Bilateral cleft lip, Occipital meningocele, Absent nasal septal cartilage, Hydrocephalus, Semilob... OMIM:610828
3Mc Syndrome 3
Cleft upper lip, Diastasis recti, Clinodactyly, Radioulnar synostosis, Penoscrotal hypospadias, P... OMIM:248340
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Mic... ORPHA:1826
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplastic pubic bone, H... OMIM:184250
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... OMIM:166750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Patent ductus arteriosus, Rhizomelia, Narrow chest, Unilateral renal agenesis, ... OMIM:617661
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... ORPHA:85167
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochon... OMIM:241530
Fanconi Anemia, Complementation Group T
Short thumb, Duplication of thumb phalanx, Chromosomal breakage induced by crosslinking agents OMIM:616435
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Coloboma, Ventricular septal defect, Atrial septa... OMIM:618652
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
C Syndrome
Abnormality of the anus, Toe syndactyly, Micrognathia, Pectus excavatum, Dislocated radial head, ... ORPHA:1308
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Missing ribs, Bifid uvula, Median clef... OMIM:184705
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... OMIM:274000
Baraitser-Winter Syndrome 2
Coloboma, Long philtrum, Wide mouth, Ventriculomegaly, Thin upper lip vermilion, Orofacial cleft OMIM:614583
Fanconi Anemia, Complementation Group Q
Absent thumb, Esophageal atresia, Anteriorly placed anus, Primum atrial septal defect, Chromosome... OMIM:615272
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventriculomegaly, Ventricular septal defect, Vascular ring, Hydrocephal... OMIM:603387
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... ORPHA:93351
Pseudoaminopterin Syndrome
Hip subluxation, Short 4th metacarpal, Microdontia, Micrognathia, Clinodactyly of the 5th toe, Cl... ORPHA:221120
Pyknoachondrogenesis
Horizontal ribs, Enlarged thorax, Short thorax, Short ribs, Short long bone, Poorly ossified vert... ORPHA:3003
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Short 5th finger, Microphallus, Micrognathia, Clinodactyly of the 5th finger, Inguin... ORPHA:397590
Stevenson-Carey Syndrome
Pierre-Robin sequence, Coloboma, Joint contracture of the hand, Left superior vena cava draining ... OMIM:611961
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Increased adipose tissue, Coloboma, Ventriculomegaly, Abnorma... ORPHA:199276
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Meningocele, Short thorax, Long philtrum, Finger syndactyly, Rib segment... ORPHA:2311
Fragile X Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Folate-dependent fragile site at Xq28, J... ORPHA:908
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... OMIM:600081
Aicardi Syndrome
Bifid ribs, Multiple lipomas, Cleft upper lip, Small hand, Ventriculomegaly, Block vertebrae, Mal... ORPHA:50
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Thin up... OMIM:601927
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Tapered finger, High palate, Long philtrum, Ventriculomegaly, Ventricular se... OMIM:617452
Desbuquois Dysplasia 2
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... OMIM:615777
Galloway-Mowat Syndrome 7
Arachnodactyly, High palate, Hallux valgus, Ventricular septal defect, Nephrotic syndrome, Stage ... OMIM:618348
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Ventriculomegaly, Toe syndactyly, Bifid uvula, Overlapping toe,... OMIM:601808
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corners of mouth, Aplasia/Hyp... ORPHA:94066
Curry-Jones Syndrome
Lip pit, Preaxial hand polydactyly, Ventriculomegaly, 2-3 finger syndactyly, Preaxial foot polyda... OMIM:601707
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, Cleft pala... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, Cleft pala... ORPHA:352665
Aicardi Syndrome
Bifid ribs, Cleft upper lip, Dilated third ventricle, Lateral ventricle dilatation, Block vertebr... OMIM:304050
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Ventriculomegaly, Toe syndactyly, Foot polydactyly,... ORPHA:1553
Burn-Mckeown Syndrome
2-3 toe syndactyly, Cleft upper lip, Ventricular septal defect, Micrognathia, Bifid uvula, Short ... OMIM:608572
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Kniest Dysplasia
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Abnormal cartilage collagen, Delay... ORPHA:485
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... OMIM:600785
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Broad secondary alveolar ridge, Ventricular septal defect, Inguinal hernia, Multiple... ORPHA:3369
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Enterocolitis, Jejunal atresia, Death in childhood, Death in infancy, Ventricu... OMIM:243150
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... ORPHA:1106
Ulbright-Hodes Syndrome
Humeroradial synostosis, Micrognathia, Phocomelia, Abnormal forearm bone morphology, Abnormal rib... ORPHA:3404
Loeys-Dietz Syndrome 2
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Micrognathia, Bifid uvula, Camptodactyly,... OMIM:610168
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Enamel hypoplasia, Metaphyseal irregularity, Bulging of the costochondral junct... OMIM:277440
Filippi Syndrome
Ventricular septal defect, Hypodontia, Microdontia, Abnormality of dental morphology, Short philt... OMIM:272440
Esophageal Atresia
Coloboma, Ventricular septal defect, Pyloric stenosis, Clinodactyly, Laryngotracheomalacia, Coarc... ORPHA:1199
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Long philtrum, Hyperextensibility of the finger joints, Tapered finger, Toe syndacty... ORPHA:505237
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Mic... OMIM:258860
Contractural Arachnodactyly, Congenital
Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus add... OMIM:121050
Monosomy 9Q22.3
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Ventriculomegaly, De... ORPHA:77301
Catel-Manzke Syndrome
Micrognathia, Bifid uvula, Camptodactyly, Pectus excavatum, Short femur, Hyperphalangy of the 2nd... OMIM:616145
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis, Short phalanx of finger... OMIM:114300
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, High palate, Long philtrum, Tapered finger, Micrognathia, Anal atr... OMIM:613792
Coach Syndrome 1
Multiple small medullary renal cysts, Encephalocele, Coloboma, Wide mouth, Vascular dilatation, S... OMIM:216360
Orofaciodigital Syndrome I
Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt... OMIM:311200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Long philtrum, Ventricular septal defect, Hip dysplasia, Prominent fingerti... OMIM:618494
Roifman Syndrome
Short toe, Hip contracture, Long philtrum, Short metacarpal, Ventricular septal defect, Short dig... OMIM:616651
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Coloboma, Ventriculomegaly, Hydrocephalus, Macroglossia, Occipital ence... ORPHA:370959
Char Syndrome
Patent ductus arteriosus, Mesoaxial foot polydactyly, Ventricular septal defect, Short middle pha... ORPHA:46627
Oeis Complex
Duplicated colon, Hydronephrosis, 11 pairs of ribs, Myelomeningocele, Vesicovaginal fistula, Abse... OMIM:258040
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of the thumb, Diastasis recti, Long philtrum, Cutaneous finger syndactyly, H... OMIM:618419
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Micrognathia, Camptodactyly, Pectus excavatum, Metatarsus adductus, Dis... OMIM:182212
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Hand clenching, Flexion contracture, Long philtrum, Death in infancy, Micrognat... OMIM:618947
Ruvalcaba Syndrome
Short phalanx of finger, Short metatarsal, Short foot, Short metacarpal, Small hand, Micromelia, ... OMIM:180870
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Delayed eruption of perman... OMIM:618506
Jackson-Weiss Syndrome
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Preaxial f... ORPHA:1540
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Long philtrum, Deep philtrum, Ventricular septal defect, Micrognathia, Bifid ... ORPHA:404440
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, ... OMIM:617247
Hajdu-Cheney Syndrome
Micrognathia, Osteolysis, Iris coloboma, Cleft palate, Short toe, Hypoplastic 5th lumbar vertebra... ORPHA:955
Pagod Syndrome
Meningocele, Abnormal aortic morphology, Multicystic kidney dysplasia, Encephalocele, Death in in... ORPHA:991
Trisomy 20P
Camptodactyly of finger, Ectopic anus, Microdontia, Micrognathia, Everted lower lip vermilion, Ab... ORPHA:261318
16P13.11 Microdeletion Syndrome