Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SRY (sex determining region Y)-box 11
Synonyms:
end1,  1110038H03Rik,  6230403H02Rik

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 Sox11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sox11 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sox11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Greenberg Dysplasia
Anterior rib punctate calcifications, Hepatomegaly, Horizontal sacrum, Barrel-shaped chest, Platy... OMIM:215140
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Atelosteogenesis, Type Ii
Cleft palate, Horizontal sacrum, Short neck, Micromelia, Platyspondyly, Sandal gap, Pulmonary hyp... OMIM:256050
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cleft palate, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carina... OMIM:183900
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymi... OMIM:604213
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Sparse eyebrow, Barrel-shaped chest, Brachy... ORPHA:263463
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... ORPHA:93284
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... OMIM:108120
Otopalatodigital Syndrome, Type I
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Downslanted palpebral fissure... OMIM:311300
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, I... OMIM:226980
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... ORPHA:915
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary hypoplasia, Hypoplasia of the maxilla, Omphalo... OMIM:608149
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Abnormality of the dentition, Scoliosis, Pectus ca... ORPHA:3268
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Uppe... ORPHA:94068
Anauxetic Dysplasia 1
Barrel-shaped chest, Short neck, Platyspondyly, Microdontia, Rhizomelia, Small epiphyses, Cervica... OMIM:607095
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... OMIM:271700
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Pulmon... OMIM:200600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Sparse eyebrow, Tricuspid stenosis, Barrel-shaped chest, Short neck, Hypoplasia of t... OMIM:143095
Fucosidosis
Abnormality of the abdominal wall, Hepatomegaly, Barrel-shaped chest, Anterior beaking of lumbar ... OMIM:230000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Short neck, Platyspondy... ORPHA:93267
Achondrogenesis, Type Ii
Cleft palate, Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral ... OMIM:200610
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin ver... ORPHA:2631
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... OMIM:178110
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... OMIM:607326
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Pursed lips, Short neck, 11 pairs of ribs, Downslanted palpebral fissures, Umbilical hernia, Calc... OMIM:616266
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Pectus excavatum, Osteopenia, Hammertoe, Phalangeal dislocation, Ventral hernia, San... ORPHA:536532
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Joint stiffness, High, narrow palate, Cleft palate, Micrognathia,... ORPHA:2516
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Sacral meningocele, Multiple lipomas, Limb duplication, Hand polyd... OMIM:223200
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... OMIM:184260
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Tooth agenesis, Micrognathia, Hernia of the abdominal wall, Bra... ORPHA:1277
Arthrogryposis, Distal, Type 2B1
High palate, Narrow mouth, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Long philt... OMIM:601680
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Long philtru... ORPHA:401935
Distal Trisomy 15Q
High palate, Joint stiffness, Anal atresia, Pectus excavatum, Arachnodactyly, Micrognathia, Campt... ORPHA:1707
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... ORPHA:3035
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Hepatoblastoma, Hepatomegaly, ... ORPHA:96334
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... ORPHA:96170
Subaortic Stenosis--Short Stature Syndrome
Short toe, Pectus excavatum, Narrow mouth, Malar flattening, Membranous subvalvular aortic stenos... OMIM:271960
Metatropic Dysplasia
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... ORPHA:2635
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... ORPHA:2484
Mosaic Trisomy 9
High palate, Cleft palate, Abnormal liver lobulation, Hemivertebrae, Short neck, Finger clinodact... ORPHA:99776
Lethal Congenital Contracture Syndrome 10
High palate, Narrow chest, Narrow palate, Talipes equinovarus, Thoracic scoliosis, Adducted thumb... OMIM:617022
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Short p... OMIM:156510
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Thin ribs, Micrognathia, Short philtrum, Platyspondyly, Metaphyseal cupping of metaca... ORPHA:163966
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Bowing... OMIM:619131
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Ventricular sept... OMIM:201000
Fibrochondrogenesis 1
Cleft palate, Short neck, Platyspondyly, Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Post... OMIM:228520
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Atrial septal defect, Radial d... ORPHA:1388
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Internally rotated shoulders, Talipes equinovarus, Flexion contract... OMIM:617468
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Cryptorchidism... ORPHA:3080
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Osteopenia, Decreased calvarial ossification, Barrel-shaped chest, Platyspondyly,... OMIM:610915
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Barrel-shaped chest, Platyspondy... OMIM:615222
Acrootoocular Syndrome
Decreased palmar creases, Pectus excavatum, Cutaneous syndactyly, Delayed eruption of teeth, Down... ORPHA:2980
Three M Syndrome 2
High palate, Dental malocclusion, Lumbar hyperlordosis, Thin ribs, Malar flattening, Short neck, ... OMIM:612921
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Ventricular septal defect, Hypoplasia of the maxilla, Epiphyseal stippling of ... ORPHA:79345
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormality of the abdominal wall, Narrow mouth, Talipes equinovarus, Malar flattening, Micrognat... OMIM:224410
Cardiac-Valvular Ehlers-Danlos Syndrome
High palate, Pectus excavatum, Recurrent shoulder dislocation, Genu valgum, Sandal gap, Aortic ro... ORPHA:230851
Dyggve-Melchior-Clausen Syndrome, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... OMIM:304950
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Anal atresia, M... OMIM:609029
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hi... OMIM:304120
Aarskog-Scott Syndrome
Testicular atrophy, Pectus excavatum, Cleft palate, Short neck, Single transverse palmar crease, ... OMIM:305400
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Marden-Walker Syndrome
High palate, Cleft palate, Short neck, Radioulnar synostosis, Pyloric stenosis, Pulmonary hypopla... OMIM:248700
Craniofacioskeletal Syndrome
Cleft palate, Barrel-shaped chest, Short philtrum, Downslanted palpebral fissures, Ventricular se... OMIM:300712
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, Cleft palate, Osteopenia, Abnormality of the dentition, Short philtr... ORPHA:251028
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Pectus excavatum, Craniosynostosis, Osteopenia, Shallow orbits, Pectus carinatum, Do... OMIM:182212
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Short neck, Lobulated tongue, Ventricular septal defect, Median cleft lip and palat... OMIM:269860
Larsen Syndrome
Pectus excavatum, Cleft palate, Talipes equinovalgus, Shallow orbits, Pectus carinatum, Ventricul... OMIM:150250
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ... OMIM:617895
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Pulmonary hypopla... OMIM:616897
Lujan-Fryns Syndrome
High palate, Pectus excavatum, Atrial septal defect, Arachnodactyly, Micrognathia, Camptodactyly ... ORPHA:776
Scarf Syndrome
Diastasis recti, Short sternum, Inguinal hernia, Coronal craniosynostosis, Barrel-shaped chest, S... OMIM:312830
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm short... ORPHA:56304
3P25.3 Microdeletion Syndrome
Cleft palate, 2-3 finger syndactyly, Short philtrum, Tapered finger, Broad hallux, Pyloric stenos... ORPHA:435638
Martsolf Syndrome 1
High palate, Pectus excavatum, Finger joint hypermobility, Short philtrum, Pectus carinatum, Broa... OMIM:212720
Chromosome 2P16.1-P15 Deletion Syndrome
High palate, Pectus excavatum, Downslanted palpebral fissures, Calcaneovalgus deformity, High, na... OMIM:612513
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Malar flattening, Metaphyseal widening, Barrel-shaped chest, Short neck, Br... OMIM:612813
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Malar flattening, Barrel-sha... OMIM:184100
Catel-Manzke Syndrome
High palate, Pectus excavatum, Cleft palate, Short neck, Pectus carinatum, Single transverse palm... OMIM:616145
Axial Mesodermal Dysplasia Spectrum
Tracheoesophageal fistula, Short neck, Omphalocele, Anorectal anomaly, Vertebral segmentation def... ORPHA:1834
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Th... OMIM:312150
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... OMIM:265000
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Wide anterior fontanel, Congenital diaphragmatic hernia, Narrow grea... OMIM:263210
Pallister-Hall-Like Syndrome
Cleft palate, Short ribs, Micrognathia, Micromelia, Anterior hypopituitarism, Postaxial hand poly... OMIM:241800
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Aplasia/Hypoplasia of the... ORPHA:2990
Weaver Syndrome
Hydrocele testis, Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, S... OMIM:277590
Orofaciodigital Syndrome Type 10
Short neck, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Telecanthus,... ORPHA:2756
Fibrochondrogenesis
Narrow chest, Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of fi... ORPHA:2021
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... ORPHA:244
Bowen-Conradi Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of finger, Abnormal ... ORPHA:1270
Nemaline Myopathy 9
High palate, Narrow chest, Cleft palate, Micrognathia, Respiratory insufficiency, Scoliosis, Arth... OMIM:615731
Sweeney-Cox Syndrome
High palate, Anal atresia, Short clavicles, Narrow mouth, Gastroesophageal reflux, Wide anterior ... OMIM:617746
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar cr... ORPHA:1692
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Hypoplastic ... OMIM:618845
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defec... ORPHA:40366
Achondrogenesis Type 2
Narrow chest, Abnormal bone ossification, Unossified sacrum, Short ribs, Delayed proximal femoral... ORPHA:93296
Pseudoaminopterin Syndrome
High palate, Pectus excavatum, Prominent sternum, Slender finger, Short philtrum, Clinodactyly of... ORPHA:221120
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot, Camptodac... OMIM:136760
Diaphanospondylodysostosis
Respiratory distress, Unossified sacrum, Cleft palate, Abnormal liver lobulation, Short neck, Ham... OMIM:608022
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Clinodactyly of the 5th finger, Cleft palate, Upslanted palpebral fissure, Atrioventric... OMIM:619123
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Respiratory distress, Airway obstruction, Barrel-shaped chest, Short n... ORPHA:505248
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Arthrogryposis, Distal, Type 5D
Talipes equinovarus, Cleft palate, Adducted thumb, Micrognathia, Short neck, Scoliosis, Camptodac... OMIM:615065
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology, Platyspondyly, Abnormali... ORPHA:1190
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Meier-Gorlin Syndrome 1
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia... OMIM:224690
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Short philtrum, Tapered finger, Narrow palm, ... OMIM:216550
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Cleft palate, Downslanted palpebral fissures, Pulmonary hypop... ORPHA:90652
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Cleft pala... OMIM:108721
Three M Syndrome 3
Increased vertebral height, Clinodactyly of the 5th finger, Short neck, Long philtrum, Slender lo... OMIM:614205
Pycnodysostosis
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... ORPHA:763
Coffin-Lowry Syndrome
High palate, Abnormal mitral valve morphology, Wide mouth, Pectus excavatum, Broad finger, Delaye... ORPHA:192
Myhre Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the pubic bone, Platyspondyly, A... ORPHA:2588
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormality of the ankles, Thickened Achilles tendon, Knee osteoarthritis, Ent... ORPHA:85438
Mohr Syndrome
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ... OMIM:252100
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Slender long bones with narrow diaphyses, Abnormal rib cage morpholo... OMIM:608154
Distal 22Q11.2 Microdeletion Syndrome
Cleft palate, Branchial fistula, Ulnar deviation of finger, Pyloric stenosis, Ventricular septal ... ORPHA:261330
20P12.3 Microdeletion Syndrome
Narrow mouth, Atrial septal defect, Malar flattening, Broad hallux phalanx, Long philtrum, Pectus... ORPHA:261295
Shprintzen-Goldberg Syndrome
Apnea, Pectus excavatum, Craniosynostosis, Osteopenia, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:2462
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
C Syndrome
High palate, Wide mouth, Hepatomegaly, Micromelia, Ulnar deviation of finger, Ventricular septal ... OMIM:211750
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... OMIM:601390
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scol... ORPHA:1248
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Thoracic hypoplasia, Shor... OMIM:618363
Craniofaciofrontodigital Syndrome
Respiratory distress, Stroke, Finger joint hypermobility, Anomalous branches of internal carotid ... ORPHA:363705
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Pectus excavatum, Cleft palate, Sparse eyebrow, Short philtrum, Downslanted palpebra... OMIM:612530
Larsen-Like Syndrome
Dental malocclusion, Kyphoscoliosis, Clinodactyly of the 5th finger, Talipes equinovarus, Joint d... OMIM:608545
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Wide mouth, Pectus excavatum, Limited pronation/supination of forearm, Short neck, Hypoplastic pe... ORPHA:163654
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Malar flattening, Cleft palate... ORPHA:85166
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Cone-shaped epiphysis, Short philtrum, Upper limb undergrowth, Broad hallux, Cauda... ORPHA:439822
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Mesomelic/rhizome... ORPHA:1354
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal sclerosis, Rheumatoid arthritis, Barrel-shaped chest, Platyspondyly, Pneumonia, Short... OMIM:607944
Endocrine-Cerebroosteodysplasia
Narrow chest, Cleft upper lip, Ulnar deviation of the hand, Malar flattening, Postaxial polydacty... OMIM:612651
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Cleft palate, Short neck, Micromelia, Anisospondyly, Pulmonary hypoplasia, Pterygium... ORPHA:1865
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ... OMIM:114300
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Barrel-shaped chest, Short neck, Brachydactyly, Abnormal respiratory system... ORPHA:171866
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Scoliosis, Oral cleft, Large hands, Synophrys, Decreased testicular size, Crypto... ORPHA:85287
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal d... OMIM:134780
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... OMIM:618316
Pentalogy Of Cantrell
Abnormal sternum morphology, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate,... ORPHA:1335
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Talipes equinovarus, Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Chol... OMIM:615415
Cohen Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... ORPHA:193
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Thin ribs, Cleft pa... OMIM:253290
Van Maldergem Syndrome 2
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... OMIM:615546
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Taper... OMIM:600920
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Talipes equinovarus, Micrognathia, Overlapping fingers, Pul... OMIM:616531
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Anophthalmia, Dextrocardia, Microphthalmia, Supernum... OMIM:221950
Chromosome 22Q11.2 Deletion Syndrome, Distal
Cleft palate, Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Truncus arteriosus OMIM:611867
Chromosome 9P Deletion Syndrome
High palate, Clinodactyly of the 4th toe, Short neck, Tapered finger, Ventricular septal defect, ... OMIM:158170
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Triploidy
Narrow chest, Abnormal cardiac septum morphology, Wide mouth, Narrow mouth, Hepatomegaly, Macrogl... ORPHA:3376
Osteopathia Striata With Cranial Sclerosis
High palate, Apnea, Pectus excavatum, Cleft palate, Ventricular septal defect, Broad ribs, Omphal... OMIM:300373
Feingold Syndrome 1
High palate, Tracheoesophageal fistula, Aplasia/Hypoplasia of the middle phalanx of the 5th finge... OMIM:164280
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Hypodontia, Flexion contracture, Macrog... OMIM:617396
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Pulmonary hypoplasia, Omphalocele... OMIM:616300
Brachyolmia Type 3
Kyphosis, Barrel-shaped chest, Platyspondyly, Short neck, Short femoral neck, Scoliosis, Clinodac... OMIM:113500
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Opitz-Kaveggia Syndrome
Dental crowding, Multiple joint contractures, Wide mouth, Prominent fingertip pads, Cleft palate,... OMIM:305450
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ... ORPHA:2790
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Long ey... OMIM:213980
Mmep Syndrome
Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip, Microph... ORPHA:3434
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis, Phalangeal dislocation, Omphalocele, Elbow dislocation ORPHA:85174
Diastrophic Dysplasia
Abnormal clavicle morphology, Cleft palate, Micromelia, Symphalangism affecting the phalanges of ... ORPHA:628
Acrocardiofacial Syndrome
Cleft palate, Ventricular septal defect, Long eyelashes, Cleft upper lip, Anal atresia, Joint dis... ORPHA:2008
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Pulmonary hypoplasia, Bowing of ... OMIM:614091
Fg Syndrome Type 1
High palate, Wide mouth, Malrotation of colon, Craniosynostosis, Limited elbow extension and supi... ORPHA:93932
Osteogenesis Imperfecta, Type X
Narrow chest, Dentinogenesis imperfecta, Thin ribs, Generalized joint laxity, Malar flattening, O... OMIM:613848
Thanatophoric Dysplasia
Narrow chest, Joint stiffness, Kyphosis, Atrial septal defect, Respiratory insufficiency, Platysp... ORPHA:2655
Fryns Syndrome
Wide mouth, Prominent fingertip pads, Cleft palate, Short neck, Single transverse palmar crease, ... OMIM:229850
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Gingival overgrowth, Triangular mouth, Micrognathia, Abnormality of the de... OMIM:618529
Marshall-Smith Syndrome
High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... OMIM:602535
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... ORPHA:90653
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Flexion contracture, Scoliosis, Long fingers, Tapered finger, Hy... OMIM:218000
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Double Outlet Right Ventricle
Hypoparathyroidism, Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft pa... ORPHA:3426
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Pursed lips, Femoral bowing, Short neck, Ulnar deviation of finger, Singl... OMIM:601559
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Respiratory distress, Hepatomegaly, Atrioventricular canal defect, Bilia... OMIM:306955
Diaphanospondylodysostosis
Respiratory distress, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, ... ORPHA:66637
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger, Abnormal heart morphology OMIM:233270
Tarp Syndrome
Apnea, Pectus excavatum, Short sternum, Cleft palate, Single transverse palmar crease, Tongue nod... ORPHA:2886
3Mc Syndrome 1
Abnormality of the abdominal wall, Cleft palate, Radioulnar synostosis, Ventricular septal defect... OMIM:257920
Fryns Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Short neck, Pulmonary ... ORPHA:2059
Costello Syndrome
High palate, Barrel-shaped chest, Short neck, Pectus carinatum, Pyloric stenosis, Downslanted pal... OMIM:218040
Vacterl/Vater Association
Vertebral segmentation defect, Anal atresia, Abnormal cardiac septum morphology, Abnormal interve... ORPHA:887
Nager Syndrome
Abnormal palate morphology, Joint stiffness, Wide mouth, Cleft palate, Hypoplasia of the radius, ... ORPHA:245
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Pectus excavatum, Genu recurvatum, Inguinal hernia, Bruising susceptibility, Mitral valve prolaps... OMIM:225320
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Short neck, Ventricular septal defect, Long eyelashes, Anteriorly... OMIM:616894
Trisomy 1Q
Anal atresia, Narrow mouth, Microretrognathia, Congenital diaphragmatic hernia, Cleft palate, Ara... ORPHA:261344
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Exocrine pancreatic insufficiency, Atrioventricular canal defect... ORPHA:508498
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... OMIM:170390
8Q22.1 Microdeletion Syndrome
Sparse eyebrow, Craniosynostosis, Sparse eyelashes, Abnormality of the dentition, Camptodactyly o... ORPHA:178303
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cl... OMIM:251230
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Narrow chest, Kyphosis, Pectus excavatum, Scoliosis, Long foot, Pectus carinatum, Hy... OMIM:300676
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Sandal gap, Hypoplasia of ... ORPHA:1106
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decrea... OMIM:276820
Adams-Oliver Syndrome 6
Splenomegaly, Cutis marmorata, Brachydactyly, Syndactyly, Ventricular septal defect, Esophageal v... OMIM:616589
Mosaic Trisomy 14
High palate, Ectopic anus, Narrow chest, Wide mouth, Cleft palate, Micrognathia, Camptodactyly of... ORPHA:1703
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Talipes calcaneovarus, High palate, Cholelithiasis, Pectus excavatum, Furrowed tongue, Hypoplasia... OMIM:300534
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis, Omphalocele, Polycys... ORPHA:371428
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Pectus excavatum, Malar flattening, Delayed cranial sutu... ORPHA:2511
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Osteopenia, ... ORPHA:536471
Hypoglossia With Situs Inversus
High palate, Respiratory distress, Narrow mouth, Hypodontia, Micrognathia, Situs inversus totalis... OMIM:612776
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Abnormality of upper lip, Epicanthus, Omphalocele, Sacral dimple ORPHA:531
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Platyspondyly, Pectus carinatum, Ventricular septal defect, Pulmonary hypoplasia, S... OMIM:263520
Dysostosis, Stanescu Type
Pectus excavatum, Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Abnormal e... ORPHA:1798
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Atrioventricular canal defect, Osteopenia, Single transverse palm... ORPHA:2409
Tetrasomy 5P
High palate, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equ... ORPHA:3309
Gracile Bone Dysplasia
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Microphthalmi... OMIM:602361
3M Syndrome
Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypoplasia of the ... ORPHA:2616
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Aortic aneurysm, Shoulder dislocation, Scoliosis, Pyloric stenosis, Hern... ORPHA:98892
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Single transverse palmar crea... ORPHA:254528
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Hiatus hernia, Craniosynostosis, Abnormal carot... ORPHA:3342
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft palate, Sparse eyebrow, Cutaneous syndactyly, Broad hallux, Ventricular septal defect, Sand... OMIM:600987
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Pectus excavatum, Short neck, Downslanted palpebral fissures, Ventricular septal def... OMIM:612582
Noonan Syndrome 13
High palate, Wide mouth, Short neck, Microdontia, Tapered finger, Downslanted palpebral fissures,... OMIM:619087
Melnick-Needles Syndrome
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, C... OMIM:309350
Postaxial Acrofacial Dysostosis
Pectus excavatum, Cleft palate, Hypoplasia of the radius, Congenital hip dislocation, Radioulnar ... OMIM:263750
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Postaxial polydactyly, Atrioventricular canal defect, Short philtrum, Di... OMIM:619142
Jackson-Weiss Syndrome
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... ORPHA:1540
Focal Dermal Hypoplasia
Telangiectasia of the skin, Abnormal cardiac septum morphology, Abnormality of the dentition, Ven... ORPHA:2092
Acrofacial Dysostosis, Palagonia Type
Cleft upper lip, Sparse eyebrow, Oligodontia, Scoliosis, Spina bifida occulta at S1, Unilateral c... OMIM:601829
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Delayed eruption of tee... OMIM:619148
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Decreased calvarial ossification, Short neck, Long thorax, Pulmonary hypoplasia, Sh... OMIM:617925
Geroderma Osteodysplasticum
Progeroid facial appearance, Femoral bowing, Osteopenia, Platyspondyly, Biconcave vertebral bodie... OMIM:231070
Femoral-Facial Syndrome
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Sprengel anomaly, Rib fusi... ORPHA:1988
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short neck, Malformation of the hep... OMIM:249000
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Urticaria, Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosi... OMIM:154400
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Hypoxemia, Micrognathia, Cyanosis, Ta... ORPHA:2257
Keipert Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Broad hallux phalanx, Broad dista... ORPHA:2662
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, Thin bony cortex, C1-C2 subluxat... OMIM:259600
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Premature loss of teeth, Kyphosis, Increased bone mineral density, Osteopeni... OMIM:239000
Esophageal Atresia
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Pyloric stenosis, Ventricular sept... ORPHA:1199
Marfan Syndrome
High palate, Reduced subcutaneous adipose tissue, Tricuspid valve prolapse, Pectus excavatum, Mit... OMIM:154700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Pectus excavatum, Atrial septal defect, Macroorchidism, Flexion contracture, Arachno... OMIM:309520
Congenital Vertical Talus
Equinus calcaneus, Abnormality of the foot musculature, Lower extremity joint dislocation, Distal... ORPHA:178382
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft upper lip, Pectus excavatum, Cleft palate, Short neck, Pectus carinatum, Ventr... OMIM:609654
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inciso... ORPHA:397973
Weill-Marchesani Syndrome 1
Broad metacarpals, Joint stiffness, Spinal canal stenosis, Narrow palate, Aortic valve stenosis, ... OMIM:277600
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... OMIM:122470
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septa... ORPHA:210122
Acrodysostosis
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... ORPHA:950
Fetal Valproate Spectrum Disorder
Narrow mouth, Thin vermilion border, Long philtrum, Downturned corners of mouth, Epicanthus, Omph... ORPHA:1906
Trigonocephaly 1
Craniosynostosis, Synophrys, Omphalocele, Lumbar hemivertebrae, Meckel diverticulum OMIM:190440
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Malar flattening, Intestinal malrotation, Partial dup... OMIM:601165
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Blepharitis, 2-3 toe syndactyly, Lacrimal duct atresia, Ankyloblepharon, Cleft p... OMIM:106260
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Brachydactyly, Tetralogy of Fallot, Epicanthus, Unilateral clef... ORPHA:1919
Trisomy 13
Cleft palate, Abnormality of the dentition, Ventricular septal defect, High, narrow palate, Long ... ORPHA:3378
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Myhre Syndrome
Cleft palate, Cone-shaped epiphysis, Short philtrum, Short neck, Platyspondyly, Ventricular septa... OMIM:139210
Mucopolysaccharidosis Type 1
Apnea, Microdontia, Abnormality of the tonsils, Abnormal epiphysis morphology, Abnormal metaphysi... ORPHA:579
Bartsocas-Papas Syndrome 1
Ablepharon, Ankyloblepharon, Absent thumb, Cleft palate, Short neck, Cicatricial lagophthalmos, O... OMIM:263650
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Cleft palate, Abnormality of the dentition,... ORPHA:96169
Hydrocephalus With Associated Malformations
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Pulmonary hypoplasia, Abn... OMIM:236640
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... OMIM:612474
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... OMIM:187600
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Intestinal m... OMIM:601163
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Retrognathi... OMIM:611890
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Camptodactyly of fin... ORPHA:376
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Lacrimal duct atresia, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar... ORPHA:1529
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi... OMIM:246560
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Ventricular septal defect, Truncus arteriosus, Cleft palate OMIM:601355
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Respiratory distress, Pectus excavatum, Stroke, Slender... ORPHA:536467
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Short neck, Platyspondyly, Anisospondyly, Ovoid verteb... ORPHA:163649
Jacobsen Syndrome
Short neck, Pyloric stenosis, Downslanted palpebral fissures, Ventricular septal defect, Bone mar... ORPHA:2308
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metatarsal osteolysis, Osteopenia, ... OMIM:166300
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Atrial septal defect, Upslanted palpebral fissure, Small hand, Coronal craniosy... OMIM:145420
Rubinstein-Taybi Syndrome 1
High palate, Dental crowding, Respiratory distress, Pectus excavatum, Prominent fingertip pads, C... OMIM:180849
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip ORPHA:1074
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Osteopenia, Short neck, Downslanted palpebral fissures, Rhizomelia, Ve... OMIM:611209
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the... ORPHA:1486
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Highly ar... ORPHA:261120
Chromosome 18Q Deletion Syndrome
Cleft palate, Short philtrum, Short neck, Downslanted palpebral fissures, Ventricular septal defe... OMIM:601808
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Malar flattening, Mi... OMIM:300978
Right Atrial Isomerism
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... OMIM:208530
Simpson-Golabi-Behmel Syndrome
Wide mouth, Pectus excavatum, Hepatomegaly, Hepatoblastoma, Cleft palate, Aplasia/Hypoplasia of t... ORPHA:373
Whistling Face Syndrome, Recessive Form
High palate, Short neck, Ulnar deviation of finger, Trismus, Talipes equinovarus, Short palpebral... OMIM:277720
Mucolipidosis Type Iii
Joint stiffness, Large iliac wing, Cleft palate, Abnormal hip bone morphology, Inguinal hernia, R... ORPHA:577
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... ORPHA:2712
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate, Omphalocele OMIM:258320
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Pectus excavatum, Cleft palate, Tapered finger, Downslanted palpebral fissures, Pulm... OMIM:618975
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Clinodactyly of the 5th finger, Osteopenia, Scoliosis, Single transver... OMIM:619717
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... ORPHA:401942
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Congenital hip dislocation, Single transverse palmar crease, ... OMIM:308050
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Malar flattening, Respiratory insufficiency, Abnormal sacrum morphology, Brachydactyly, Abnormal ... ORPHA:93262
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Hepatomegaly, A... OMIM:253000
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Taper... ORPHA:251071
Neuralgic Amyotrophy
Sprengel anomaly, Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging, Acrocy... ORPHA:2901
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Asthma, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Pyloric stenosis... OMIM:614262
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Nablus Mask-Like Facial Syndrome
High palate, Sparse eyebrow, Craniosynostosis, Abnormality of the dentition, Short neck, Tapered ... OMIM:608156
Koolen-De Vries Syndrome
High palate, Pectus excavatum, Slender finger, Prominent fingertip pads, Cleft palate, Narrow pal... OMIM:610443
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Abnormality of the humerus, Elbow disloca... ORPHA:2538
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Scoliosis, Ventricular septal defect, Bilateral cleft lip and palat... OMIM:601357
Distal Monosomy 7Q36
Wide mouth, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Upslanted palpebral f... ORPHA:1636
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Cutis marmorata, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single tra... OMIM:614701
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Cleft palate, Camptodactyly of finger, Short philtrum... ORPHA:1617
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... OMIM:220210
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Talipes equinovarus, Cryptorchidism, Camptodactyly of finger, Tapered finger, Hypopl... ORPHA:85279
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cryptorchidism, Cleft palate, Micrognathia, Abnormality of the p... ORPHA:3429
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Ankyloblepharon, Cleft palate OMIM:106250
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Small hand, Micrognathia, Short philtrum, Scoliosis, Bif... ORPHA:96184
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... ORPHA:2759
Aarskog Syndrome, Autosomal Dominant
Proximal finger joint hyperextensibility, Hepatomegaly, Cleft palate, Macrocytic anemia, Single t... OMIM:100050
Mueller-Weiss Syndrome
Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi... ORPHA:566943
Severe X-Linked Intellectual Disability, Gustavson Type
Micrognathia, Recurrent upper respiratory tract infections, Congenital hip dislocation, Apneic ep... ORPHA:3078
Weill-Marchesani Syndrome 2
High palate, Shallow orbits, Thin bony cortex, Ventricular septal defect, Broad ribs, Hypoplasia ... OMIM:608328
Hartsfield Syndrome
Microphthalmia, Cleft palate, Craniosynostosis, Aplasia/Hypoplasia of the radius, Downslanted pal... ORPHA:2117
Arthrogryposis, Distal, Type 11
Limited pronation/supination of forearm, Talipes equinovarus, Rocker bottom foot, Camptodactyly, ... OMIM:620019
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Cleft palate, Abnormality of the dentition, Short philtrum, Sh... ORPHA:567
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Short palpebral fissure,... OMIM:608572
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... OMIM:614261
Branchioskeletogenital Syndrome
Absent nipple, Pectus excavatum, Craniosynostosis, Abnormality of the dentition, Short philtrum, ... ORPHA:1299
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microretrognathia, Abnormal morphology of ulna, Cleft palate, Split fo... ORPHA:1307
Neu-Laxova Syndrome 1
Ablepharon, Cleft palate, Short neck, Micromelia, Ventricular septal defect, Pulmonary hypoplasia... OMIM:256520
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radiouln... ORPHA:2319
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Micrognathia, Short neck, Micromelia, Long philtrum, Abnormal ... ORPHA:93298
Acalvaria
Cleft palate, Abnormal lung lobation, Postaxial hand polydactyly, Omphalocele, Talipes ORPHA:945
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Upsla... OMIM:264480
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Flexion contracture, Upslanted palpebral fissure, Arachnodactyly, Thin vermilion bor... ORPHA:481152
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Hepatomegaly, P... OMIM:253010
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Sco... ORPHA:1937
Microphthalmia, Syndromic 8
Cleft upper lip, Short palpebral fissure, Cleft palate, Split foot, Oral cleft, Microphthalmia, W... OMIM:601349
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Thin vermilion border, Osteopenia, Micrognathia, Delayed cranial suture closure, Bra... OMIM:601812
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrioventricular canal defect, Talipes equinovalgus, Short dis... ORPHA:1120
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Hypoplastic left heart, Cleft upper lip OMIM:236110
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Supernumerary nipple, Inguinal hernia, Micrognathia, Six lumbar vertebrae, Epic... OMIM:619122
Mcdonough Syndrome
Diastasis recti, Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Atrial septal defect, Aor... OMIM:248950
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal... OMIM:179613
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Anal atresia, Talipes equinovarus, Prune belly, Autoimmune thrombocytopenia, Th... OMIM:601389
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Gastroesophageal reflux, Secundum atrial septal defect, Hand oligodact... OMIM:156810
Recombinant 8 Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Ventricular septal defect, Cleft up... ORPHA:96167
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, R... ORPHA:474
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Pulmonary hypoplasia, Bowing of the lon... ORPHA:50945
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Cleft upper lip, Cleft palate, Short neck, Sco... OMIM:214300
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Sprengel anomaly, Cleft palate, Abno... ORPHA:2345
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... OMIM:208500
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Apert Syndrome
Cleft palate, Craniosynostosis, Cutaneous syndactyly, Shallow orbits, Delayed eruption of teeth, ... OMIM:101200
Codas Syndrome
Atrioventricular canal defect, Congenital hip dislocation, Delayed eruption of teeth, Ventricular... OMIM:600373
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Cleft upper lip, Atrial septal defect, Cleft palate, Tracheoma... OMIM:612561
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Gastroesophageal reflux, Thin vermilion border, Micrognathia, Del... ORPHA:813
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... ORPHA:168549
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, ... ORPHA:2958
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Respiratory distress, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, B lym... ORPHA:83617
Kennerknecht syndrome
High palate, Malrotation of colon, Toe clinodactyly, Hypodontia, Short neck, Thoracolumbar scolio... OMIM:600908
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Kyphosis, Pectus excavatum, Intestinal malrotation, Micrognath... ORPHA:77300
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
Distal Xq28 Microduplication Syndrome
High palate, Asthma, Upper eyelid edema, Aplasia/Hypoplasia of the eyebrow, Recurrent upper respi... ORPHA:293939
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Short palpebral fissure, Adducted thumb, Thin vermilion border, Short philtrum, Short neck, Bifid... OMIM:618622
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Cutaneous photosensitivity, Arthrogryposis multi... OMIM:616570
Ehlers-Danlos Syndrome, Classic Type, 1
Pectus excavatum, Aortic root aneurysm, Umbilical hernia, Narrow maxilla, Cigarette-paper scars, ... OMIM:130000
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Enlarged thorax, Adducted thumb, Micrognathia, Camptodactyly of fing... ORPHA:2570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... OMIM:613153
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Micrognathia, Short neck, Micromelia, ... ORPHA:93299
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis... OMIM:617063
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... OMIM:300863
Constricting Bands, Congenital
Cleft upper lip, Talipes equinovarus, Abnormal rib cage morphology, Cleft palate, Syndactyly, Sco... OMIM:217100
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot, Upper limb undergrowth, Omphalocele, Lower ... OMIM:613630
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate, Craniosynosto... ORPHA:261197
Zttk Syndrome
High palate, Sparse eyebrow, Craniosynostosis, Abnormality of the dentition, Short philtrum, Hemi... OMIM:617140
Acrorenal-Mandibular Syndrome
High palate, Absent nipple, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplas... OMIM:200980
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Hepatomegaly, Single transverse palmar crease, Ventricular septal defect, Pulmonary ... OMIM:214100
Alg9-Cdg
Wide mouth, Hepatomegaly, Shallow orbits, Short neck, Hepatic cysts, Ventricular septal defect, L... ORPHA:79328
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Cutis marmorata, Short neck, Advanced er... ORPHA:818
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, E... OMIM:618164
Zechi-Ceide Syndrome
Short distal phalanx of finger, Cleft upper lip, Short palpebral fissure, Malar flattening, Cleft... OMIM:612916
Bohring-Opitz Syndrome
Tapered finger, Ventricular septal defect, Sacral dimple, Cleft upper lip, Deep plantar creases, ... OMIM:605039
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretrognathia, Cutan... OMIM:236500
Czeizel-Losonci Syndrome
High palate, Ectrodactyly, Split foot, Upslanted palpebral fissure, Micrognathia, 2-3 finger synd... ORPHA:2437
Neuropathy, Congenital, With Arthrogryposis Multiplex
Areflexia of lower limbs, Hyporeflexia of lower limbs, Hyperlordosis, Arthrogryposis multiplex co... OMIM:162370
Frontometaphyseal Dysplasia 2
High palate, Pectus excavatum, Cleft palate, Short philtrum, Congenital hip dislocation, Finger c... OMIM:617137
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Arachnodactyly, Abnormality of the dentition, Bilateral single transve... ORPHA:1548
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Pectus excavatum, Abnormal sternum morphology, Congenit... ORPHA:2847
Isolated Osteopoikilosis
Abnormality of femur morphology, Cleft palate, Abnormally ossified vertebrae, Sclerotic scapulae,... ORPHA:166119
Prieto Syndrome
Talipes equinovarus, Inguinal hernia, Retrognathia, Abnormality of the dentition, 11 pairs of rib... OMIM:309610
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Sleep apnea, 2-3 toe syndactyly, Gastroesophageal reflux, Atrial septal defect, Equinus calcaneus... ORPHA:522077
Pierpont Syndrome
Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... ORPHA:487825
Fetal Alcohol Syndrome
Vertebral segmentation defect, Joint stiffness, Atrial septal defect, Congenital diaphragmatic he... ORPHA:1915
Genitopalatocardiac Syndrome
Cleft upper lip, Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transpos... OMIM:231060
Orofaciodigital Syndrome Xvii
High, narrow palate, Partial duplication of thumb phalanx, Prominent metopic ridge, Short neck, S... OMIM:617926
Trisomy 18P
Narrow mouth, Abnormality of finger, High, narrow palate, Upslanted palpebral fissure, Thin vermi... ORPHA:1715
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Cleft palate, Shoulder muscle hypoplasia, Short n... ORPHA:3181
Jacobsen Syndrome
Pectus excavatum, Short neck, Pyloric stenosis, Ventricular septal defect, U-Shaped upper lip ver... OMIM:147791
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Kyphosis, Abnormal sternum morphology, Atrial septal defect, Flexi... ORPHA:314588
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Single transverse palmar crease, Downslanted palpebral fissures, Sanda... OMIM:206920
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Upslanted palpebral fiss... ORPHA:3082
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Cleft palate, Micrognathia, Camptodactyly of finger, Respiratory ins... ORPHA:994
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Osteopenia, Abnormality of the... ORPHA:666
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... OMIM:208540
Frank-Ter Haar Syndrome
High palate, Wide mouth, Osteopenia, Ventricular septal defect, Downslanted palpebral fissures, B... OMIM:249420
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, High palate, Narrow mouth, Respiratory distress, Short sternum, Short metaca... OMIM:266910
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Downslanted palpebral fissures,... ORPHA:280
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Cleft Velum
Velopharyngeal insufficiency, Aspiration pneumonia, Hypoplasia of the maxilla, Cleft soft palate,... ORPHA:99772
Cardioacrofacial Dysplasia 2
Narrow chest, Accessory oral frenulum, Clinodactyly of the 5th finger, Hypodontia, Atrioventricul... OMIM:619143
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Genu recurvatum, Inguinal hernia, Joint laxity, Bilateral microphthalmos, Narrow palpebral fissur... OMIM:608763
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Telecanthus, Recurrent aspiratio... OMIM:300484
2Q37 Microdeletion Syndrome
Sparse eyebrow, Short neck, Pyloric stenosis, Abnormal aortic morphology, Umbilical hernia, Clino... ORPHA:1001
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Joint stiffness, Tooth agenesis, Congenital diaphragmatic hernia, ... ORPHA:1166
Developmental And Epileptic Encephalopathy 89
Narrow chest, Talipes equinovarus, Microretrognathia, Cleft palate, Flexion contracture, Sparse e... OMIM:619124
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:601186
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Cl... OMIM:184250
Rare Circulatory System Disease
Periostosis, Abnormal hand morphology, Abnormality of finger, Arterial calcification, Arterial to... ORPHA:98028
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Au-Kline Syndrome
High palate, Overlapping toe, Pectus excavatum, Deep plantar creases, Cleft palate, Craniosynosto... OMIM:616580
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Hepatoblastoma, Inguinal hernia, Pursed lips, Coat hanger sign o... ORPHA:254519
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Sparse eyelashes, Sparse eyebrow, Cutaneous... OMIM:225000
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Cleft palate, Short neck, Umbilical hernia, Vertebral segmenta... ORPHA:2311
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Abnormal rib cage mor... OMIM:300209
Juberg-Hayward Syndrome
Cleft upper lip, Abnormality of toe, Decreased response to growth hormone stimulation test, Highl... OMIM:216100
Distal Monosomy 10P
Ectopic anus, Joint stiffness, Anal atresia, Clinodactyly of the 5th finger, Cleft palate, Microg... ORPHA:1580
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Lacrimal duct aplasia, Median cleft lip, Split hand... DECIPHER:46
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Downslanted pa... OMIM:612350
Fetal Akinesia Deformation Sequence 1
High palate, Elbow ankylosis, Cleft palate, Short neck, Pulmonary hypoplasia, Rocker bottom foot,... OMIM:208150
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Inguinal hernia, Retrognathia, M... ORPHA:2849
Chromosome 16P13.3 Duplication Syndrome
Short toe, Pectus excavatum, Atrial septal defect, Malar flattening, Upslanted palpebral fissure,... OMIM:613458
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Keratoconus Posticus Circumscriptus
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... OMIM:244600
2P15P16.1 Microdeletion Syndrome
High palate, Pectus excavatum, Sparse eyebrow, Tapered finger, Downslanted palpebral fissures, Lo... ORPHA:261349
Miller-Dieker Lissencephaly Syndrome
Abnormality of the abdominal wall, Cleft palate, Delayed eruption of teeth, Single transverse pal... OMIM:247200
Roifman Syndrome
Hepatomegaly, Prominent eyelashes, Single transverse palmar crease, Downslanted palpebral fissure... OMIM:616651
Saethre-Chotzen Syndrome
Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Clino... ORPHA:794
Basal Cell Nevus Syndrome
Cleft palate, Hemivertebrae, Down-sloping shoulders, Mandibular prognathia, Ovarian carcinoma, Pl... OMIM:109400
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Lumbar hyperlordosis, Inguinal her... OMIM:619451
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... ORPHA:1801
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Triangular mouth, Cleft palate, Shor... OMIM:200990
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal clavicle morphology, Abnormality of the humerus, Pectus ... ORPHA:3138
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Downslanted palpeb... OMIM:257850
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Pectus carinatum, Genu valgum, Short long bone, Cleft upper lip, Aceta... OMIM:225500
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, Omphalocele, ... OMIM:614450
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate, Preaxial hand polydactyly OMIM:601420
Trisomy 8Q
High palate, Joint stiffness, Bone cyst, Cleft palate, Upslanted palpebral fissure, Everted lower... ORPHA:1752
8Q24.3 Microdeletion Syndrome
Respiratory distress, Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal... ORPHA:508488
Gonadal dysgenesis, xy type, with associated anomalies
Cleft upper lip, Abnormal heart morphology, Oral cleft OMIM:233430
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pectus excavatum, Craniosynostosis, Downslanted palpebral fissures, Pyloric stenosis... ORPHA:314575
Meier-Gorlin Syndrome 3
Downslanted palpebral fissures, Hypoplasia of the maxilla, Absent sternal ossification, Talipes e... OMIM:613803
Monosomy 5P
High palate, Recurrent fractures, Microretrognathia, Inguinal hernia, Small hand, Short neck, Sco... ORPHA:281
Raine Syndrome
High palate, Wide mouth, Pectus excavatum, Cleft palate, Short neck, Micromelia, Microdontia, Dow... OMIM:259775
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Cleft palate, Adducted thumb, Upslanted palpebral fissure, ... ORPHA:1794
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Short neck, Pectus ca... ORPHA:1507
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Pulmonic st... ORPHA:3304
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Pla... OMIM:615777
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Dental crowding, Pectus excavatum, Atrial septal defect, Congenital di... OMIM:617602
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Short neck, Anophthalmia, Polydactyly, Postaxial hand polydactyly,... OMIM:613885
Restrictive Dermopathy 1
Sparse eyebrow, Decreased calvarial ossification, Ankylosis, Pulmonary hypoplasia, Rocker bottom ... OMIM:275210
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Pectus excavatum, Cleft palate, Malar flattening, Palmoplantar cutis laxa, Spina... OMIM:268850
Opitz Gbbb Syndrome
High palate, Cleft palate, Craniosynostosis, Tracheoesophageal fistula, Downslanted palpebral fis... ORPHA:2745
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... OMIM:222600
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... OMIM:263540
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Malar flattening, Sparse eyebrow, Sparse ey... OMIM:225060
Blepharonasofacial Malformation Syndrome
Tooth agenesis, Cleft palate, Inguinal hernia, Long philtrum, Telecanthus, Epicanthus, Sparse lat... ORPHA:1252
Holoprosencephaly
Short neck, Ventricular septal defect, Median cleft lip and palate, Solitary median maxillary cen... ORPHA:2162
Mucopolysaccharidosis Type 7
Joint stiffness, Enlarged thorax, Arteriovenous malformation, Inguinal hernia, Abnormal hip bone ... ORPHA:584
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Pectus excavatum, Finger joint hypermobility, Monkey wrench femoral neck, Micromelia, Single tran... OMIM:618870
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Absent thumb, Retrognathia, Micrognathia, Ventricular septal defect, Truncus ... OMIM:617516
Monosomy 18P
Enlarged thorax, Pectus excavatum, Kyphoscoliosis, Tooth malposition, Cleft palate, Hypodontia, M... ORPHA:1598
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Thin verm... OMIM:614856
Thomas Syndrome
Cleft upper lip, Downslanted palpebral fissures, Hypoplastic left heart, Cleft palate ORPHA:3316
Thymic Aplasia With Fetal Death
Stillbirth, Truncus arteriosus OMIM:274210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... ORPHA:93351
Craniolenticulosutural Dysplasia
High palate, Narrow chest, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac... ORPHA:50814
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Aortic root aneurysm, Umbilical h... OMIM:618000
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Oligodontia, Platyspondyly, Microdontia, Herniation of ... OMIM:601216
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Respiratory distress, Apnea, Cleft palate, Femor... OMIM:114290
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Splenomegaly, Platyspondyly, Anterior rib ... OMIM:602271
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Ptosis, Cleft palate, Microphthalmia OMIM:120433
Kyphomelic Dysplasia
Cleft palate, Femoral bowing, Platyspondyly, Micromelia, Pterygium, Dumbbell-shaped humerus, Thor... OMIM:211350
Fetal Akinesia Deformation Sequence 4
High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly... OMIM:618393
Alg3-Cdg
High palate, Abnormal uvula morphology, Macroglossia, Osteopenia, Coarctation of the descending a... ORPHA:79321
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Anal atresia, Clinodactyly of the 5th finger, Pectus excavatum... ORPHA:3242
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Micrognathia, Pulmonary hypoplasia, Hypoplasia of the maxilla, Arthrogryposis ... OMIM:601809
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... ORPHA:1425
CantĂș Syndrome
Wide mouth, Short neck, Platyspondyly, Long eyelashes, Broad ribs, Ovoid vertebral bodies, Umbili... ORPHA:1517
Prune Belly Syndrome
Vertebral segmentation defect, Anal atresia, Pectus excavatum, Talipes equinovarus, Intestinal at... ORPHA:2970
Zellweger Syndrome
High palate, Malabsorption, Abnormality of the tongue, Hepatomegaly, Wide anterior fontanel, Upsl... ORPHA:912
Trisomy 18
Cleft palate, Abnormality of the upper limb, Ventricular septal defect, Omphalocele, Anal atresia... ORPHA:3380
X-Linked Non-Syndromic Intellectual Disability
2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Long palpebral fissure, Lo... ORPHA:777
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosis, Ventricular septal defec... ORPHA:261494
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Malar flattening, Abnormal hip bone morphology, Reduced bone min... ORPHA:1488
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Atrial septal defect, Cleft palate, Malar flattening, Upslanted palpebra... ORPHA:79113
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Wide mouth, Pectus excavatum, Thick eyebrow, Upslanted palpebral fissure, Small hand, Broad finge... OMIM:614684
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... OMIM:613091
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Calvarial hyperostosis, Delayed eruption of t... OMIM:101800
Marden-Walker Syndrome
Pectus excavatum, Cleft palate, Pectus carinatum, Radioulnar synostosis, Pyloric stenosis, Ventri... ORPHA:2461
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Absent lac... OMIM:129400
3Mc Syndrome 2
Cleft upper lip, Diastasis recti, Cleft palate, Craniosynostosis, Abnormality of the vertebral co... OMIM:265050
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Pectus excavatum, Short metacarpal, Short neck, Platyspondyly, Small epiphyses, Short... OMIM:611717
X-Linked Intellectual Disability, Abidi Type
Pectus excavatum, Cleft palate, Scoliosis, Decreased testicular size, Non-midline cleft lip ORPHA:85273
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Brachydactyly,... ORPHA:1406
Stickler Syndrome