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, Stillbirth, Abnormal hip bone morphology, Congenital malformation of the great arter... ORPHA:294975
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Ventriculomegaly, Craniosyn... OMIM:175700
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Proximal placement of thumb, Talipes equinovarus, H... OMIM:613330
Metatropic Dysplasia
Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Flare... OMIM:156530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Orofacial cleft, Genu valgum, Nephronophthisis, Bell-shaped thorax, Cone-s... OMIM:615630
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Short ribs, Postaxial hand polydactyly, Micromelia, Death... OMIM:241800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Unilateral cleft lip, Thor... OMIM:616897
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short ribs, Short long bone, Intestinal malrotation, Intrauterine growth retardation... OMIM:269860
Verheij Syndrome
Joint hypermobility, Coloboma, Truncus arteriosus, Branchial cyst, Renal cyst, Intrauterine growt... OMIM:615583
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Urinary incontinence, Sandal gap, Short philtrum, Single trans... OMIM:617927
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... OMIM:617405
Otopalatodigital Syndrome Type 2
Glossoptosis, Myelomeningocele, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Abnorm... ORPHA:90652
Emanuel Syndrome
Congenital diaphragmatic hernia, Dental crowding, Aortic valve stenosis, Pulmonic stenosis, Bifid... ORPHA:96170
Emanuel Syndrome
Congenital diaphragmatic hernia, Dental crowding, Aortic valve stenosis, Pulmonic stenosis, Intes... OMIM:609029
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... OMIM:616300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Short ribs, Short long bone, Hypoplastic ischia, Abnormal heart morphology, Encephal... ORPHA:1865
Triploidy
Iris coloboma, Hypospadias, Narrow chest, Meningocele, Hydrocephalus, Finger syndactyly, Non-midl... ORPHA:3376
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosu... ORPHA:401935
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... OMIM:617866
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Rhizomelia, Abnorm... ORPHA:1842
Carpenter Syndrome 1
Flared iliac wing, Agenesis of permanent teeth, Pulmonic stenosis, Duplication of the proximal ph... OMIM:201000
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Schneckenbecken Dysplasia
Metaphyseal irregularity, Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short... OMIM:269250
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187601
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Amelia, Coloboma, Omphalocele, Cle... OMIM:601357
Acalvaria
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Omphalocele, Cleft palate, Holoprosencep... ORPHA:945
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Ventricular septal def... OMIM:617895
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Pectus excavatum, Broad thumb, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Ventricu... ORPHA:508498
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Encephalocele, Narrow chest, Hydrocephalus, Short ribs, Short long ... OMIM:224400
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydrocephalus, Dandy-Walker malformation, Coloboma, Missing ribs, Anal atresia, Aort... OMIM:220210
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Bilateral single transverse palmar creases, High, narrow palate, Truncus arteriosus, Abnormal aor... ORPHA:2516
Trisomy 1Q
Congenital diaphragmatic hernia, Congenital megaureter, Hydrocephalus, Short thorax, Narrow mouth... ORPHA:261344
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Cleft palate, Short distal phalan... OMIM:601355
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Short ribs, Hypoplastic pelvis, Split foot, Upper limb asymmetry... ORPHA:2092
3C Syndrome
Abnormal hip bone morphology, Hypoplasia of penis, Death in infancy, Pulmonic stenosis, Abnormal ... ORPHA:7
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Joint hypermobility, Glossoptosis, Pectus excavatum, Oral synechi... ORPHA:1388
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o... ORPHA:2839
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac... OMIM:134780
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short long bone, Short ribs, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short dist... OMIM:614091
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Preaxial polydactyly, Unilateral renal agenesis, High palate, Bilateral tal... OMIM:618142
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Anal atresia, Death in infanc... OMIM:613390
Greenberg Dysplasia
Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Chondrodysplasia, Blomstrand Type
Stillbirth, Narrow chest, Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, ... OMIM:215045
Atelosteogenesis Type Ii
Sandal gap, Bilateral cleft palate, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lo... ORPHA:56304
Thanatophoric Dysplasia, Type I
Narrow chest, Short greater sciatic notch, Hydrocephalus, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Vascular dilatation, Wide distal femoral metaphysis, Cardiomegaly, Delayed ep... OMIM:613320
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Wide ant... ORPHA:2347
Achondrogenesis, Type Ib
Stillbirth, Absent or minimally ossified vertebral bodies, Narrow chest, Inguinal hernia, Short r... OMIM:600972
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo... ORPHA:2484
Ellis-Van Creveld Syndrome
Hypoplastic iliac wing, Pectus carinatum, Short long bone, Short ribs, Cone-shaped epiphyses of p... OMIM:225500
Pseudotrisomy 13 Syndrome
Cyclopia, Tricuspid atresia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Holoprosen... OMIM:264480
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Anencephaly, Narrow chest, Accessory oral ... OMIM:616546
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Hypospadias, Coloboma ORPHA:141333
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited... OMIM:277590
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Omphalocele, Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Mosaic Trisomy 1
Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Arachnodactyly, Wide mouth, L... ORPHA:1692
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pectus excavatum, Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Hypospadias, ... OMIM:618316
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Narrow chest, Short long bone, Short ribs, Coarse metaphyseal trabecularizati... OMIM:618961
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Pectus excavatum... OMIM:304120
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short long bone, Short... ORPHA:93296
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hamartomatous stomach polyps, Abnormal sternum morphology, Short ribs, Polyd... OMIM:109400
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Radial deviation of finger, Pectoral muscle hypoplasia/... OMIM:136760
Three M Syndrome 1
Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Spina bifida occulta, Sle... OMIM:273750
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Pallister-Hall Syndrome
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Distal Duplication 15Q
High palate, Pectus excavatum, Anal atresia, Omphalocele, Joint stiffness, Camptodactyly of finge... ORPHA:1707
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Patent ductus arteriosus, Narrow chest... OMIM:618188
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Femoral bowing, Short ribs, Short long bone, Absent tibia, Intestinal malrotatio... OMIM:613091
Poland Syndrome
Hypoplasia of deltoid muscle, Dextrocardia, Short ribs, Unilateral oligodactyly, Sprengel anomaly... OMIM:173800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Short ribs, Abnormal 5th metacarpal morpholog... ORPHA:397715
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse... OMIM:224300
Acrocardiofacial Syndrome
Hypoplasia of penis, Death in infancy, Split foot, Intrauterine growth retardation, Abnormal meta... ORPHA:2008
Distal 22Q11.2 Microdeletion Syndrome
Sandal gap, Arachnodactyly, Short distal phalanx of finger, Joint hypermobility, Intrauterine gro... ORPHA:261330
Meckel Syndrome, Type 2
Polydactyly, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Postaxial hand p... OMIM:603194
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnorma... ORPHA:3035
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, High palate, Camptodactyly, Prenatal death, Micrognathia, N... OMIM:618393
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encepha... ORPHA:1335
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Pectus carinatum, Short long bone, Short ribs, Intestin... OMIM:263520
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Pectus excavatum, Intestinal malrotation, Arachnodac... OMIM:300373
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abnormal cardiac septum... OMIM:308050
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic arch morphology,... ORPHA:96334
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Short ribs, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Hypercalciuria, Short ribs, Abnorma... OMIM:241500
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Stiff neck, Talipes equinovarus, Narrow chest, Short long bone, Fem... OMIM:617022
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Ventriculomegaly, Bilateral cleft lip, Fi... OMIM:612651
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Myelomeningocele, M... ORPHA:66637
2Q24 Microdeletion Syndrome
Short philtrum, Coloboma, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Ha... ORPHA:1617
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... OMIM:266920
Prieto Syndrome
Radial deviation of finger, 11 pairs of ribs, Inguinal hernia, Abnormality of the dentition, Oste... OMIM:309610
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Hypospadias, Coloboma, Cleft palate, Short toe, Chorioretinal colobom... ORPHA:921
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Esophageal diverticulum, Fibular hypop... OMIM:617925
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula... ORPHA:1801
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup... OMIM:614524
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r... OMIM:200610
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Limited hip extension, Rhizomelia, Ulnar b... OMIM:100800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Perimembranous ventricular septal defect, Transposition of the great arteries, Clinod... OMIM:617877
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Radial deviation of finger, Absent thumb, Wide mouth, Absent rad... OMIM:154400
Trisomy 18
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Abnormal hip bone mo... ORPHA:3380
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Myelomeningocele, Abnormal heart mo... ORPHA:94065
C Syndrome
Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide mouth, Accessory oral ... OMIM:211750
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Bicuspid aortic valve, Atr... ORPHA:1120
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Pectus excavatum, Wide mouth, Long philtrum, Ventriculomegaly, Joint hypermobility, Cone-shaped e... OMIM:618659
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Congenital diaphragmatic hernia, Wide anterior fontanel, Polycystic... OMIM:263210
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Abnormality of the urethra, Anencephaly... ORPHA:887
Van Den Ende-Gupta Syndrome
Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower lip vermilion,... OMIM:600920
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Pectus excavatum, Flexion contracture of finger, Thoracic hypoplasia, ... ORPHA:254528
Noonan Syndrome 12
Proximal placement of thumb, 11 pairs of ribs, Pectus excavatum, Tetralogy of Fallot, Ventriculom... OMIM:618624
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, High palate, Inter... ORPHA:1145
Chromosome 9P Deletion Syndrome
Clinodactyly of the 5th toe, Sandal gap, Long philtrum, Long toe, Narrow palate, Perimembranous v... OMIM:158170
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Sh... OMIM:271665
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo... ORPHA:2059
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl... OMIM:607323
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Ventral hernia, Sandal gap, Triangular mouth, Cleft soft palate, Gingival overgrow... 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
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus ... OMIM:245600
Joubert Syndrome 15
Preaxial polydactyly, Nephronophthisis, Coloboma, Micropenis, Exencephaly OMIM:614464
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Pectus excavatum, Abnormal heart morphology, Cervical ribs, Long philtrum, Sh... ORPHA:508488
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:250420
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Bifid distal phalanx of the... OMIM:120400
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Midclavicular aplasia, Ureteral duplication, Aniridia, Short rib... OMIM:305600
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Death in infancy, Joint h... OMIM:224690
Kagami-Ogata Syndrome
Long clavicles, Bell-shaped thorax, Inguinal hernia, Thin ribs, Diastasis recti, Omphalocele, Pul... OMIM:608149
Yunis-Varon Syndrome
Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ... ORPHA:3472
Adams-Oliver Syndrome 6
Truncus arteriosus, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Syndactyly, Brachydact... OMIM:616589
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthrosis OMIM:618155
Femoral-Facial Syndrome
Long philtrum, Ventriculomegaly, Abnormal fibula morphology, Inguinal hernia, Polycystic kidney d... ORPHA:1988
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Craniosynostosis, Hydrocephalus, Finger syndactyly, Postaxial ha... ORPHA:380
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic hernia, Upper limb u... OMIM:613630
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Hydrocephalus, Finger syndactyly... ORPHA:1647
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Increased susceptibility to fractures, Bicuspid aortic valve, Osteopenia, Carpal osteolysis, Oste... ORPHA:371428
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Marshall-Smith Syndrome
Short mandibular rami, Prominent fingertip pads, Glossoptosis, Pectus excavatum, Microdontia, Ecl... OMIM:602535
Chromosome 10Q26 Deletion Syndrome
Radial deviation of finger, Sandal gap, Prominent fingertip pads, Pectus excavatum, Long philtrum... OMIM:609625
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Clinodactyly of the 5th finger, Patent ductus arteriosus, Inguinal hernia, Single transverse palm... ORPHA:329224
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatu... OMIM:218330
Pseudodiastrophic Dysplasia
Rhizomelia, Omphalocele, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus ORPHA:85174
Eng-Strom Syndrome
Arthritis, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Intrauterine growth retardat... ORPHA:1937
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor... ORPHA:1488
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Wide mouth, Umbilical hernia, Ventriculomegaly, 2-3 toe cutaneou... OMIM:618454
Acrocallosal Syndrome
Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid di... OMIM:200990
Nail-Patella Syndrome
Pectus excavatum, Disproportionate prominence of the femoral medial condyle, Biceps aplasia, Ilia... OMIM:161200
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate, Smooth philtrum, Intrauterine growth retardation, Thin upper li... OMIM:611867
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hydrocephalus, Syndactyly, Smooth philtrum, Hernia, Joint hypermobility, Ventriculom... OMIM:602501
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, A... OMIM:306955
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Hydrocephalus, Gingival overgrowth, Abnormal intestine morpholog... ORPHA:1834
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
3Mc Syndrome 1
Dental crowding, Short 5th finger, Single interphalangeal crease of fifth finger, Cleft palate, P... OMIM:257920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ... OMIM:210710
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Meckel Syndrome, Type 1
Occipital encephalocele, Radial deviation of finger, Anencephaly, Intestinal malrotation, Wide mo... OMIM:249000
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Anal atresia, Micromelia, Spina bifi... ORPHA:63862
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arteriosus, Micrognathia, Absent t... OMIM:617516
2Q31.1 Microdeletion Syndrome
Sandal gap, Everted lower lip vermilion, Long philtrum, Ventriculomegaly, Abnormal fibula morphol... ORPHA:251014
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad metacarpals, Short metacarpal, Short phalanx of finger, Broad phalanx, In... OMIM:618724
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long... OMIM:615503
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Intestinal malrotation, Pro... ORPHA:2143
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Tooth malpo... OMIM:156400
Codas Syndrome
Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal, Short humeru... OMIM:600373
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao... OMIM:217095
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Metaphyseal cuppi... OMIM:300863
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Dandy-Walker malformation, Postax... OMIM:615948
Shprintzen-Goldberg Syndrome
Pectus carinatum, Pectus excavatum, Joint stiffness, Arachnodactyly, Mitral valve prolapse, Umbil... ORPHA:2462
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Thin vermilion border, Bell-shaped thorax, Flared metaphysis, Delay... OMIM:602557
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Congenital diaphragmatic hernia, Enlarged kidney, Short greater sci... OMIM:312870
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly ORPHA:64754
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Patent foramen ovale, Vesicoureteral reflux, ... OMIM:609053
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypopla... OMIM:617926
Miller-Dieker Syndrome
Omphalocele, Clinodactyly of the 5th finger, Abnormal upper lip morphology, Nephropathy ORPHA:531
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Thin ribs, Femoral bowing, Short... OMIM:620076
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Pectu... ORPHA:373
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Anal atresia, Omphalocele, Renal hypoplasia, Sprengel anomaly, Cervical rib... OMIM:601389
Seckel Syndrome 4
Intrauterine growth retardation, Steep acetabular roof, 11 pairs of ribs OMIM:613676
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Inguinal hernia, Short long bone, Short ribs, Split hand, Cardiomyopathy,... OMIM:252600
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypoplastic right heart, Clinodactyly, Triangu... OMIM:616894
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Intrauterine growth retardation,... ORPHA:2515
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Renal cyst, Postaxial polydacty... OMIM:614815
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S... OMIM:108720
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pectus carinatum, Fe... OMIM:114290
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Fragile X Syndrome
Metacarpophalangeal joint hyperextensibility, Folate-dependent fragile site at Xq28, Pectus excav... OMIM:300624
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Short philtrum, Patent foramen ova... OMIM:607143
Cranioectodermal Dysplasia 2
Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatum, Mesomelia, Syndactyly, Br... OMIM:613610
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Narrow chest, Oligodactyly, Narrow mouth, Missing ribs, Micromelia, Forearm ... OMIM:251230
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Amelia, Decreased skull ossifica... OMIM:601163
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Multiple suture craniosynostosis, Intestinal malrotation, Arachn... ORPHA:567
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Long philtrum, Intrauterine growth retardation, Interphalangeal joint contracture of finger, Knee... OMIM:606242
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Pat... ORPHA:2519
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Short philtrum, Coloboma, R... OMIM:614424
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular... ORPHA:750
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavatum, Ureteral ste... OMIM:309350
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Mesomelic/rhiz... ORPHA:1354
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Cyclopia, Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Postax... ORPHA:2166
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Wide anterior fontanel, High palate, L... ORPHA:3098
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Meningocele, Missing ribs, Intestinal malrotat... ORPHA:1759
Blomstrand Lethal Chondrodysplasia
Long philtrum, Rhizomelia, Narrow chest, Flared metaphysis, Metaphyseal cupping, Broad clavicles,... ORPHA:50945
Teebi Hypertelorism Syndrome 1
Long philtrum, Aortic root aneurysm, Dental crowding, Omphalocele, Coronal craniosynostosis, Micr... OMIM:145420
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Oligodactyly, Amelia, Tracheoesophageal fistula, Intestinal malrotati... ORPHA:2538
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost... OMIM:187760
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Intestinal malrotation, Sho... OMIM:222448
Holoprosencephaly
Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Hypoplasia of penis, ... ORPHA:2162
Fryns Syndrome
Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi... OMIM:229850
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate, Hypospadias, Radioulnar synostosis OMIM:302905
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Anal stenosis, Dextrocardia, Spina bifida occulta, Bell-shaped thorax, Hy... OMIM:613686
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Joubert Syndrome 16
Polydactyly, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Coloboma, Renal cyst OMIM:614465
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Clinodactyly of the 5th finger, Deep palmar crease, Inguinal hernia, Delayed eruptio... OMIM:247200
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Ectopic kidney, Hydrocephalus, Pelvic kidney, Deficient excision of UV-induce... OMIM:227646
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Mesoaxial polydactyly, Tongue nodules, High palate, Central Y-shaped metaca... ORPHA:2754
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Abnormal heart morphology, Umbilical ... ORPHA:2745
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Truncus arteriosus, Pulmonary artery atresia, Narrow mo... ORPHA:3426
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Inguinal hernia, ... OMIM:601186
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Diastasis recti, Omphalocele, Coat hanger sign of ribs, Abnormal heart morphology... ORPHA:254534
Fanconi Anemia, Complementation Group S
Narrow palate, Proximal placement of thumb, Chromosome breakage, Thick upper lip vermilion, Denta... OMIM:617883
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 5th toe, Chromosomal breakage induced by crosslinking agents, Short 2nd toe, Short 5th fing... OMIM:619060
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe clinodactyly... ORPHA:261120
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Abnormal hip bone morphology, Pectus carinatum, Tibial bowing, Cardio... ORPHA:175
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent... ORPHA:251028
Jacobsen Syndrome
Death in infancy, Aortic valve stenosis, Intestinal malrotation, Abnormality of the anus, Long ph... ORPHA:2308
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Cystic renal dysplasia, Hammertoe, Bell-shaped... OMIM:608022
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Cyclopia, Aplasia/Hypoplasia o... ORPHA:3186
Charge Syndrome
Tracheoesophageal fistula, Umbilical hernia, Bifid femur, Intrauterine growth retardation, Abnorm... ORPHA:138
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly, Iris coloboma OMIM:210350
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Cleft palate, Ventriculomeg... OMIM:614120
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Delayed eruption of teeth, Congenital hip dislocation OMIM:614450
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Hypospadias, Bicoronal synostosis, Dental crowding, Patent foramen ovale, Short... OMIM:619184
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Brachydactyly, Jejunal atresia, Toe syndactyly, Vent... ORPHA:391646
Stromme Syndrome
Stillbirth, Preaxial polydactyly, Iris coloboma, Hydrocephalus, Intestinal malrotation, Micrognat... OMIM:243605
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel... OMIM:201170
Constricting Bands, Congenital
Tessier cleft, Ectopia cordis, Gastroschisis, Encephalocele, Omphalocele, Cleft upper lip, Hand p... OMIM:217100
Fanconi Anemia, Complementation Group R
Radial dysplasia, Hydrocephalus, Pelvic kidney, Anal atresia, Absent thumb, Agenesis of permanent... OMIM:617244
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges o... OMIM:615297
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Hydrocephalus, Coloboma, Ventriculomegaly ORPHA:324416
Kniest Dysplasia
Rhizomelia, Inguinal hernia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossificatio... OMIM:156550
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th... OMIM:142900
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Widely spaced teeth, Clinodactyly of the 5th finger, Single transverse palmar crease,... OMIM:619717
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Esophageal atresia, Unilateral renal agenesis, Hydrocephalus, Tracheoesophage... OMIM:614083
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Gingival overgrowth, Abnormality of th... OMIM:179613
Suleiman-El-Hattab Syndrome
Polydactyly, Thick lower lip vermilion, Inguinal hernia, Single transverse palmar crease, Patent ... OMIM:618950
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Orofaciodigital Syndrome Ii
Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, ... OMIM:252100
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Hypospadias, Dandy-Walker malformation, Postaxial hand poly... OMIM:614175
Iniencephaly
Rocker bottom foot, Congenital diaphragmatic hernia, Anencephaly, Myelomeningocele, Absent verteb... ORPHA:63259
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Posterior rib fusion, Dys... OMIM:265380
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Tracheoesophageal fistula, ... OMIM:192350
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Knee flexion contracture, Inguinal hernia, Elbow flexion contracture, Calcaneov... OMIM:616266
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Cupped... OMIM:271640
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Ventriculomegaly, Increased den... OMIM:269150
Feingold Syndrome 2
Intestinal atresia, 2-3 toe syndactyly, Short middle phalanx of the 5th finger, 3-4 toe syndactyl... OMIM:614326
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Enlarged kidney, Encephalocele, Narrow chest, Polycystic ki... OMIM:613885
Robinow Syndrome
Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Pulmonic stenosis, Mesomelia, B... ORPHA:97360
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ... OMIM:620294
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency OMIM:615991
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Ureteral duplication, Microcolon, Pulmonic stenosis, Intestinal ... OMIM:600001
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Holt-Oram Syndrome
Pectus excavatum, Broad thumb, Joint stiffness, Absent thumb, Abnormal clavicle morphology, Abnor... ORPHA:392
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1918
Bartsocas-Papas Syndrome 1
Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Inferiorly positioned umb... OMIM:263650
Alg9-Cdg
Narrow greater sciatic notch, Enlarged kidney, Abnormal bone ossification, Short long bone, Abnor... ORPHA:79328
Fetal Valproate Spectrum Disorder
Thin vermilion border, Narrow mouth, Omphalocele, Downturned corners of mouth, Long philtrum ORPHA:1906
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Atrioventricular canal defect, Aplasia of the epiglottis, Horseshoe kidney, ... OMIM:617088
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Talipes equinovarus, Slender long bone, Absent sternal ossification, Aplasia... OMIM:613803
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst OMIM:615987
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Prominent fingertip pads, Pectus excavatum, Microdontia, Broad thumb, Bifid uvula, Bicuspid aorti... OMIM:612474
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Short ribs, Urethrovaginal fistula, Long philtrum, Ventriculomegaly, Short t... ORPHA:93271
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic n... OMIM:256050
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma OMIM:613094
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Truncus arteriosus, ... OMIM:615415
Hydrolethalus Syndrome 1
Stillbirth, Anencephaly, Hypospadias, Upper limb undergrowth, Dandy-Walker malformation, Postaxia... OMIM:236680
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Broad thumb, Sh... OMIM:620073
Carpenter Syndrome 2
Pectus carinatum, Pectus excavatum, Broad thumb, Umbilical hernia, Long philtrum, Craniosynostosi... OMIM:614976
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum, Omphalocele, Long philtrum, Craniosynostosis OMIM:190440
Fanconi Anemia, Complementation Group B
Esophageal atresia, Hydrocephalus, Abnormality of chromosome stability, Tracheoesophageal fistula... OMIM:300514
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasi... ORPHA:1908
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:184260
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Intrauterine growth retardation, Abnormal rib morphology, Micromelia, Decrea... ORPHA:2772
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th... OMIM:169400
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Missing ribs, Abnormal rib morphology, Cleft palate, Posterio... ORPHA:1797
Tetraamelia-Multiple Malformations Syndrome
Orofacial cleft, Hydrocephalus, Narrow mouth, Aplasia/Hypoplasia involving the pelvis, Missing ri... ORPHA:3301
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Death in childhood, Patent ductus arteriosus, Hydrocephalus, Dandy-Walker ... OMIM:612938
Fanconi Anemia, Complementation Group C
Ectopic kidney, Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of ... OMIM:227645
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Syndactyly, Brachydactyly, Clinodactyly, Iris coloboma OMIM:610023
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Perianal abscess, Pectus carinatum, Upturned corners of mouth, Pectus excavatum, Sh... OMIM:614684
Nemaline Myopathy 9
Narrow chest, High palate, Arthrogryposis multiplex congenita, Micrognathia, Cleft palate, Ventri... OMIM:615731
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, De... OMIM:617478
Carpenter Syndrome
Polydactyly, Genu valgum, Patent ductus arteriosus, Craniosynostosis, Finger syndactyly, Postaxia... ORPHA:65759
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Renal hypopla... OMIM:615996
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Trisomy 4P
Abnormal palate morphology, Radial club hand, Hypospadias, Abnormality of the dentition, Camptoda... ORPHA:1738
Cree Mental Retardation Syndrome
Rocker bottom foot, Hypospadias, Cleft soft palate, Coloboma, Pectus excavatum, Cutaneous finger ... OMIM:606851
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Short humerus, Thoracic hypop... OMIM:117650
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Narrow chest, Poorly ossified cervical vertebrae, Tracheoma... ORPHA:140
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the philtrum, Missing ribs, Abnormal rib morpholog... ORPHA:2759
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect, Glossoptosis, Epiphyseal stippling OMIM:614876
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal femur morphology, Arteriovenous malformation, Reduce... ORPHA:84
Tarp Syndrome
Rocker bottom foot, Meckel diverticulum, Glossoptosis, Pectus excavatum, Intrauterine growth reta... OMIM:311900
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, Broad thumb, Pulmonic stenosis, Overlapping toe, Short philtrum, Cor... ORPHA:435638
Jacobsen Syndrome
Clinodactyly of the 5th finger, Hypospadias, Hydrocephalus, Pectus excavatum, Missing ribs, Pylor... OMIM:147791
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... ORPHA:79106
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Hernia, Interrupted inferior vena cava with azygous co... ORPHA:185
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Coloboma, Everted lower lip vermilion,... OMIM:616789
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft... ORPHA:2476
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Ectopic anus, Abnormal rib morphol... ORPHA:2345
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Narrow mouth, Postaxial hand polydactyly, Ventricular septal defect, Abnormal card... ORPHA:83473
Martsolf Syndrome 1
Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Broad femoral... OMIM:212720
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, 11 pairs of ribs, Narrow chest, Unilateral renal agenesis, Chronic kidney disease, Re... OMIM:617661
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Death in childhood, Hydrocephalus, Dandy-Walker malformation, Coloboma, Left ventricular hypertro... OMIM:613153
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Short thumb, Anal atresia, Chromosomal breakage induced by cross... OMIM:605724
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Joint hypermobility, Hydrocephalus, Pectus excavatum, Postaxial polyda... OMIM:616362
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Flat acetabular roof, Pectus excavatum, Limited knee extension, J... OMIM:618870
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Slender finger, Death in infancy, Cleft palate, Flexion... OMIM:147800
Facial Clefting, Oblique, 1
Deep palmar crease, Coloboma, Cleft upper lip, Cleft palate, Tessier number 4 facial cleft OMIM:600251
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Reduced bone mineral density, Oral ulcer, Microdontia, Congenital hip di... OMIM:617052
Seckel Syndrome 5
Clinodactyly of the 5th finger, 11 pairs of ribs, Hypospadias, Oligodontia, Selective tooth agene... OMIM:613823
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl... ORPHA:1686
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge... ORPHA:1519
Fanconi Anemia, Complementation Group E
Ectopic kidney, Deficient excision of UV-induced pyrimidine dimers in DNA, Complete duplication o... OMIM:600901
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Orofacial cleft, Large hands, Cleft upper lip ORPHA:85287
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Everted lower lip vermilion, Long philtrum, Ventriculomegaly, Short distal phalanx of finger, Sho... OMIM:220500
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand... OMIM:611134
Cdags Syndrome
Rectourethral fistula, Lambdoidal craniosynostosis, Hypospadias, Rectovaginal fistula, Short clav... OMIM:603116
Kabuki Syndrome
Congenital diaphragmatic hernia, Hypoplasia of penis, Microdontia, Joint hypermobility, Short 5th... ORPHA:2322
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Abnormal lower lip morphology, Ves... ORPHA:1166
Tetrasomy 9P
Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Juxtaductal coarc... ORPHA:3310
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Apert Syndrome
Limited elbow movement, Pectus carinatum, Broad thumb, Bifid uvula, Syndactyly, Ventriculomegaly,... OMIM:101200
Multiple Osteochondromas
Intestinal obstruction, Cervical myelopathy, Abnormal femur morphology, Limitation of knee mobili... ORPHA:321
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Trisomy 13
Bilateral single transverse palmar creases, Multiple renal cysts, Long philtrum, Intrauterine gro... ORPHA:3378
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Short thumb, Chromosomal breakage induced by crosslinking agents OMIM:609054
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Short metacarpal, Cigarette-paper scars, Broad femoral neck, Bifid uvula,... OMIM:612350
Fanconi Anemia, Complementation Group A
Ectopic kidney, Deficient excision of UV-induced pyrimidine dimers in DNA, Complete duplication o... OMIM:227650
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Dental crowding, Pectus excavatum, Umbilical hernia, Joint hypermobility, Hyd... OMIM:612582
Developmental And Epileptic Encephalopathy 89
Death in childhood, Narrow chest, Omphalocele, Cleft palate, Limb undergrowth, Neonatal death, Sm... OMIM:619124
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ... ORPHA:1507
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Mosaic Trisomy 9
Rocker bottom foot, Hypoplasia of penis, Intestinal malrotation, Multiple renal cysts, Intrauteri... ORPHA:99776
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Pectus excavatum, Arachnodactyly, Hand polydactyly, Coarctat... ORPHA:261243
Caudal Duplication
Ureteral duplication, Intestinal duplication, Myelomeningocele, Spina bifida, Omphalocele, Abnorm... ORPHA:1756
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... OMIM:177170
Joubert Syndrome 22
2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Renal hypoplasia, Intrauterine growth r... OMIM:615665
Charge Syndrome
Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Abnormal palmar dermatoglyphics, Dysp... OMIM:214800
Cloacal Exstrophy
Abnormal fibula morphology, Abnormal tibia morphology, Ectopic kidney, Hydroureter, Absent foot, ... ORPHA:93929
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f... ORPHA:2108
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi... ORPHA:1278
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Bifid uvula, Bicuspid aortic valve, Craniosynostosis, Intrauterine gro... ORPHA:453499
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
Omphalocele
Omphalocele ORPHA:660
Acro-Renal-Ocular Syndrome
Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Crossed fused renal ect... ORPHA:959
Acromicric Dysplasia
Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal, Short foot, Short pal... OMIM:102370
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Triangular mouth, Inguinal hernia, Pectus carinatum, Pectus excavatum, ... OMIM:607131
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran... ORPHA:3384
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis, Chromosome breakage, Absent thumb, Absent radius OMIM:179280
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Glossoptosis, Micrognathia, Cleft palate OMIM:618356
ERI1-related disease
Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Abnormal heart morpholo... OMIM:608739
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Thin vermilion border, Patellar hypoplasia, Gingival overgrowth, Coloboma, Vesicoureteral reflux,... ORPHA:464288
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly OMIM:615984
Gillespie Syndrome
Ventriculomegaly, Truncus arteriosus, Aniridia OMIM:206700
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Dental crowding, 2-3 toe... OMIM:617201
Phaver Syndrome
Triphalangeal thumb, Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Abnorma... ORPHA:2876
Mesoaxial Hexadactyly And Cardiac Malformation
Everted lower lip vermilion, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atria... OMIM:249670
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Dental crowding, ... OMIM:180849
Braddock Syndrome
Unilateral renal agenesis, Pectus excavatum, Missing ribs, Micrognathia, Preaxial hand polydactyl... ORPHA:52047
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol... ORPHA:93307
Intellectual Developmental Disorder, Autosomal Recessive 79
Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Smooth philtrum, Vent... OMIM:620393
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Chromosomal breakage induced by crosslinking agents, Pelvic kidney, Ves... OMIM:603467
Kagami-Ogata Syndrome
Large placenta, Bell-shaped thorax, Inguinal hernia, Limitation of joint mobility, Diastasis rect... ORPHA:254519
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate OMIM:612913
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
3Mc Syndrome 3
Tessier cleft, Preaxial polydactyly, Penoscrotal hypospadias, Horseshoe kidney, Diastasis recti, ... OMIM:248340
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ... OMIM:184705
Tbck-Related Intellectual Disability Syndrome
Broad finger, High, narrow palate, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Neurogenic bl... ORPHA:488632
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High palate, Diastasis recti, Upper... ORPHA:231140
Mmep Syndrome
Orofacial cleft, Triphalangeal thumb, Split foot, Ventricular septal defect, Median cleft upper lip ORPHA:3434
Ollier Disease
Abnormal metaphysis morphology, Micromelia, Joint stiffness, Abnormal cartilage morphology, Multi... ORPHA:296
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Patent foramen ovale, Coloboma, Downturned corners of mouth, S... OMIM:618652
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Hypospadias, Ventriculomegaly, Joint hypermobility, Tracheobronchomalac... ORPHA:500159
Branchio-Oculo-Facial Syndrome
Orofacial cleft, Non-midline cleft of the upper lip, Coloboma, High palate, Everted lower lip ver... ORPHA:1297
Fanconi Anemia, Complementation Group T
Duplication of thumb phalanx, Short thumb, Chromosomal breakage induced by crosslinking agents OMIM:616435
Craniorachischisis
Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal ... ORPHA:63260
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Split foot, Intrauterine growth retardation, Hip dislocation, Hy... OMIM:200980
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Coloboma, Short long bone, Metaphyse... ORPHA:85167
Limb Body Wall Complex
Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha... ORPHA:2369
Oculodentodigital Dysplasia
Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Abnormal clav... ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Esophag... OMIM:614576
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... OMIM:607361
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Esophageal atresia, Hypoplasia of penis, Hydrocephalus, Hypospadias, Tracheoeso... ORPHA:77298
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Enlargement of the costochondral junction, Fibular bowing, Generalized aminoaciduria, De... OMIM:264700
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Flexion contracture of the 2nd toe, Flexion contractur... ORPHA:2712
Stevenson-Carey Syndrome
Left superior vena cava draining to coronary sinus, Coloboma, Narrow mouth, Camptodactyly, Downtu... OMIM:611961
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Widely spaced teeth, Sandal gap, Short philtrum, High palate, Pe... OMIM:612530
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Ren... OMIM:241530
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Inguinal hernia, Broad alveolar ridg... OMIM:314320
Bardet-Biedl Syndrome 16
Polydactyly, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst OMIM:615993
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ven... OMIM:601927
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Hydrocephalus, Postaxial polydactyly, Vascular ring, Thoracic scoliosis... OMIM:603387
Microphthalmia/Coloboma 4
Coloboma OMIM:251505
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Long phi... OMIM:251450
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Abnormal tricuspid valve morphology, Odontogenic keratocys... ORPHA:199276
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Li-Ghorbani-Weisz-Hubshman Syndrome
Clinodactyly of the 5th finger, Ventriculomegaly, Downturned corners of mouth, Thick vermilion bo... OMIM:618974
Baraitser-Winter Syndrome 2
Orofacial cleft, Coloboma, Wide mouth, Long philtrum, Ventriculomegaly, Thin upper lip vermilion OMIM:614583
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Primum atrial septal defect, Chromosome breakage, Absent thumb, Anteriorly pl... OMIM:615272
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Hypospadias, Inguinal hernia, Ectrod... ORPHA:397590
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Coloboma, Enamel hypoplasia, Long philtrum, Toot... OMIM:166750
Microphthalmia/Coloboma 6
Coloboma OMIM:613703
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Short philtrum, Wide anterior fontanel, Dandy-Walker malformation... OMIM:300963
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... ORPHA:485
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor... ORPHA:3003
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Abnormal ster... OMIM:610168
C Syndrome
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Dislocated radial he... ORPHA:1308
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilater... OMIM:274000
Curry-Jones Syndrome
Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Intestinal malrotation, Abnor... ORPHA:1553
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Microdontia, Overlapping t... ORPHA:221120
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Desbuquois Dysplasia 2
Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectu... OMIM:615777
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Fibular bowing, Delayed epiphyseal ossificati... OMIM:600081
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventriculomegaly, Tapered finger, High palate, Intrauterine growth retardation, Broad thumb, Flex... OMIM:617452
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Hypospadias, Spina bifida occulta, Meningocele, Finger syndactyl... ORPHA:2311
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Holoprosencephaly 7
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... OMIM:610828
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Abnormal oral frenulum... ORPHA:404440
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Everted lower lip vermilion, Aortic valve stenosis, Intestinal m... OMIM:601803
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Ectopic kidney, Unilateral renal agenesis, Pelvic kidney, Anal atresia,... OMIM:610832
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Unicoronal synostosis, Bicoronal synostosis, Tripha... OMIM:601707
Fragile X Syndrome
Joint hypermobility, Folate-dependent fragile site at Xq28, Ascending tubular aorta aneurysm, Mit... ORPHA:908
Monosomy 9Q22.3
Polydactyly, Orofacial cleft, Palmar pits, Joint hypermobility, Delayed eruption of teeth, Hydroc... ORPHA:77301
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Renal ... OMIM:307800
Aicardi Syndrome
Bifid ribs, Proximal placement of thumb, Lipoma, Dandy-Walker malformation, Dilated third ventric... OMIM:304050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Abnormal heart morph... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Abnormal heart morph... ORPHA:352665
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Coloboma, Cardiomyopathy, Dilated fourth ventricle, Ventr... ORPHA:370959
Trisomy 17P
Hypoplasia of penis, Aortic valve stenosis, Urethral valve, Wide mouth, Urethral stenosis, Intrau... ORPHA:261290
Aicardi Syndrome
Bifid ribs, Intestinal polyposis, Short philtrum, Missing ribs, Rib fusion, Cleft upper lip, Supe... ORPHA:50
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Bifid uvula, Umbilical he... OMIM:601808
Ulbright-Hodes Syndrome
Short ribs, Severe intrauterine growth retardation, Short metacarpal, Mesomelia, Short humerus, A... ORPHA:3404
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Death in childhood, Rectal atresia, Death in infancy, Inte... OMIM:243150
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventriculomegaly, Hyperextensibility of the finger joints, High palate, Intrauterine growth retar... ORPHA:505237
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Bulging of the costochondral junction, ... OMIM:277440
Esophageal Atresia
Coloboma, Laryngotracheomalacia, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Ompha... ORPHA:1199
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, High, narrow palate, Unilateral renal agenesis, Joint hypermobility, Patent forame... OMIM:618494
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Constricted iliac wing, Large elbow, Wide mouth, Joint hyp... OMIM:253000
Arthrogryposis Multiplex Congenita 5
Rocker bottom foot, Limitation of knee mobility, 11 pairs of ribs, Hammertoe, Inguinal hernia, El... OMIM:618947
Chromosome 3Pter-P25 Deletion Syndrome
Thin vermilion border, Atrioventricular canal defect, High palate, Intrauterine growth retardatio... OMIM:613792
Bloom Syndrome
Clinodactyly of the 5th finger, Azoospermia, Abnormality of chromosome stability, Chromosome brea... OMIM:210900
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Pectus excavatum, Foot polydactyl... OMIM:258860
Orofaciodigital Syndrome I
Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Syndactyly, Tongue nodul... OMIM:311200
Jackson-Weiss Syndrome
Abnormal fibula morphology, Abnormal palate morphology, Short metatarsal, 2-3 toe syndactyly, Bro... ORPHA:1540
Coach Syndrome 1
Occipital encephalocele, Nephronophthisis, Vascular dilatation, Unilateral renal agenesis, Enceph... OMIM:216360
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Knee flexion contracture, Single transverse palmar crease, Ulnar deviati... OMIM:114300
Galloway-Mowat Syndrome 7
Stage 5 chronic kidney disease, Cubitus valgus, Minimal change glomerulonephritis, Hallux valgus,... OMIM:618348
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Dental crowding, Pectus carinatum, Ventricular hypertrophy, Pulmonic stenosis, Syndactyly, Umbili... OMIM:620654
Contractural Arachnodactyly, Congenital
Pectus carinatum, Wrist flexion contracture, Congenital finger flexion contractures, Limited knee... OMIM:121050
Burn-Mckeown Syndrome
Thin vermilion border, Unilateral renal agenesis, Short philtrum, Inguinal hernia, 2-3 toe syndac... OMIM:608572
Char Syndrome
Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Mesoaxial foot polydactyly, Sym... ORPHA:46627
Spondyloepimetaphyseal Dysplasia, Irapa Type