Gene Summary

Name:
PDS5 cohesin associated factor B
Synonyms:
Aprin,  AS3

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.

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood vessel 0.0%
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyer's patch 0.57% (1 of 175)
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 148 images

Human diseases caused by Pds5b 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 Pds5b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fibrochondrogenesis 1
Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Rhizomelia, Short nose, Dumbbell... OMIM:228520
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Hypoplasia of the radius, Cutis marmorata, Depressed nasal bridge, Short neck, Wafer-thin ... OMIM:602613
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pectus excavatum, Prominent sternum, 11 pairs of ribs, Short nose, Sandal gap, Clino... OMIM:617877
Schneckenbecken Dysplasia
Macrocephaly, Cleft palate, Short neck, Platyspondyly, Short nose, Ovoid vertebral bodies, Dumbbe... OMIM:269250
Femoral-Facial Syndrome
Cleft palate, Long penis, Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Sp... ORPHA:1988
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Optic atrophy, ... OMIM:224300
Multiple Epiphyseal Dysplasia With Robin Phenotype
Pectus excavatum, Cleft palate, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Rhi... OMIM:601560
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Irregular vertebral endplates, Flexion contracture, Micrognathia, Osteopenia, Short ... OMIM:222765
Tarp Syndrome
High palate, Pectus excavatum, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous s... OMIM:311900
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Atrioventricular canal defect, Postaxial polydactyly, Short philtrum, Di... OMIM:619142
Cleidocranial Dysplasia
Macrocephaly, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping sh... ORPHA:1452
Frank-Ter Haar Syndrome
High palate, Wide mouth, Pectus excavatum, Osteopenia, Broad nasal tip, Depressed nasal bridge, H... OMIM:249420
Short Rib-Polydactyly Syndrome
Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones... ORPHA:1505
Tarp Syndrome
Apnea, Pectus excavatum, Short sternum, Cleft palate, Optic atrophy, Single transverse palmar cre... ORPHA:2886
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Micrognathia, Cyanosis, Microcephaly,... ORPHA:2257
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, Short neck, 11 pairs of rib... OMIM:108720
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... OMIM:122470
3M Syndrome
Bulbous nose, Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypo... ORPHA:2616
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Pectus excavatum, Abnormality of the dentition, Tapered finger, Short nose, Primary ... ORPHA:476126
Marshall-Smith Syndrome
High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... OMIM:602535
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... ORPHA:950
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Intrau... OMIM:210720
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Campomelic Dysplasia
High palate, Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Macrocephaly, Cleft... OMIM:114290
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short phi... OMIM:186500
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Short ... OMIM:200600
Platyspondylic Dysplasia, Torrance Type
Narrow chest, Short distal phalanx of finger, Disproportionate short-limb short stature, Metaphys... ORPHA:85166
Renal Dysplasia-Limb Defects Syndrome
High palate, Respiratory distress, Short sternum, Hypoplasia of the radius, Depressed nasal bridg... OMIM:266910
Sandestig-Stefanova Syndrome
High palate, Convex nasal ridge, Muscular ventricular septal defect, Retrognathia, Short neck, Bi... OMIM:618804
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Macrocephaly, Cleft palate, Depressed nasal bridge, Short neck... ORPHA:2311
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Uterus didelphys, Decreased calvarial ossification, Short neck, Depressed nasal bri... OMIM:617925
Catel-Manzke Syndrome
Joint stiffness, Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th finger, Malar fl... ORPHA:1388
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Cleft p... OMIM:600987
Hamamy Syndrome
High palate, Wide mouth, Pectus excavatum, Craniosynostosis, Osteopenia, Down-sloping shoulders, ... OMIM:611174
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Macrocephaly, Severe short stature, Cleft palate, Microcephaly, Sh... ORPHA:1797
Osteoglophonic Dysplasia
High palate, Respiratory distress, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short... OMIM:166250
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... OMIM:619135
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Malar flattening, Short s... OMIM:602471
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Dislocated radial head, Abnormal sternum morphology, Epiphyseal ... ORPHA:166016
Cousin Syndrome
Ambiguous genitalia, female, Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Cl... OMIM:260660
Monosomy 18Q
High palate, Wide mouth, Bulbous nose, Pectus excavatum, Depressed nasal bridge, Short philtrum, ... ORPHA:1600
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis... OMIM:617063
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, External genital hypoplasia, M... ORPHA:96334
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Depressed nasal br... OMIM:600920
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Perisylvian polymicrogyria, 2-3 toe syndactyly, Secundum atrial septal defect, A... OMIM:619121
Short-Rib Thoracic Dysplasia 12
Macrocephaly, Short neck, Anencephaly, Lobulated tongue, Ventricular septal defect, Ambiguous gen... OMIM:269860
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Macrocephaly, Abnormality of the dentition, Short philtrum, Short n... ORPHA:1507
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal ... ORPHA:440354
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club ha... ORPHA:1972
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Abnormality of the d... ORPHA:217340
Holt-Oram Syndrome
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... OMIM:142900
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Micropenis, Short ribs, Hypospadias, Short philtrum, Hy... OMIM:607143
Cleidocranial Dysplasia 1
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... OMIM:119600
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Pectus excavatum, Macrocephaly, Triangular mouth, Hypoplastic sacrum, Hypoplasia of t... OMIM:268310
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Abnormality of the dentition, Long nose, Carious teeth, Abnor... ORPHA:363444
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Abnormal... ORPHA:2563
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Aplasia/hypoplasia involving bones of the extremities, Hip ... ORPHA:1856
Smith-Mccort Dysplasia 1
Prominent sternum, Barrel-shaped chest, Platyspondyly, Disproportionate short-trunk short stature... OMIM:607326
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Abnormality of the dentit... OMIM:618371
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Macrocephaly, Cleft palate, Femoral bowing, Depressed nasal b... ORPHA:140
Omodysplasia 2
Dislocated radial head, Micropenis, Hypospadias, Short 1st metacarpal, Short humerus, Long philtr... OMIM:164745
Crane-Heise Syndrome
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Hypoplasia of penis, Cleft ... ORPHA:1512
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Depressed nasal bridge, Congenital hip dislocation, Single tr... OMIM:308050
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Chromosome 9P Deletion Syndrome
High palate, Clinodactyly of the 4th toe, Depressed nasal bridge, Short neck, Tapered finger, Ven... OMIM:158170
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Malar flattening, Bifid scrotum, Micrognathia, Short 1st metacarpal, Short h... ORPHA:93328
Robinow Syndrome
Tricuspid atresia, Macrocephaly, External genital hypoplasia, Triangular mouth, Broad alveolar ri... ORPHA:97360
Diamond-Blackfan Anemia 7
Sprengel anomaly, Secundum atrial septal defect, Cleft palate, Osteopenia, Scoliosis, Osteoporosi... OMIM:612562
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phal... ORPHA:2256
Atelosteogenesis, Type Ii
Cleft palate, Horizontal sacrum, Depressed nasal bridge, Short neck, Micromelia, Platyspondyly, S... OMIM:256050
Fibrochondrogenesis
Narrow chest, Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Short stature, Depr... ORPHA:2021
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular septal defect, H... OMIM:228940
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Clitoral h... OMIM:609945
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly... ORPHA:1277
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Abnormality of the dentition, Microcephaly, Scolio... ORPHA:3268
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... ORPHA:3258
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Short neck, 11 pairs of ribs, Micromelia, Platyspondyly, Single transverse palmar... OMIM:210710
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Mic... ORPHA:1832
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, 2-3 toe syndactyly, Secundum atrial septal defect, Micropenis, Everted upper lip vermil... OMIM:619951
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Platyspon... OMIM:184260
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r... OMIM:602196
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Micrognathia, Premature sternal synostosis, Cryptorchidism, Abnormal heart morphology OMIM:184800
Cerebrocostomandibular Syndrome
High palate, Rib gap, Abnormality of the dentition, Congenital hip dislocation, 11 pairs of ribs,... OMIM:117650
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ... ORPHA:2831
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal d... OMIM:134780
Ulbright-Hodes Syndrome
High palate, Aplasia/Hypoplasia of the ulna, Respiratory distress, Short sternum, Abnormal extern... ORPHA:3404
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Polymicrogyria, Hypoplasia of the ulna, Opti... OMIM:218600
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Clinodactyly of the 5th finger, Short stature, ... ORPHA:2370
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Short stature, Thin vermilion border, Hypospadias, Micrognathia, Cran... ORPHA:96097
Agnathia-Otocephaly Complex
Respiratory distress, Narrow mouth, Secundum atrial septal defect, Cleft palate, Tracheomalacia, ... OMIM:202650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... OMIM:614091
Codas Syndrome
Atrioventricular canal defect, Depressed nasal bridge, Congenital hip dislocation, Delayed erupti... OMIM:600373
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Cleft upper lip, Anal atresia, 2-3 toe syndactyly, Atrial septal defect, Bicor... OMIM:264480
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Mucolipidosis Ii Alpha/Beta
Wide mouth, Pectus excavatum, Craniosynostosis, Osteopenia, Depressed nasal bridge, Bullet-shaped... OMIM:252500
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Wide mouth, Clinodactyly of the 5th finger, Secundum atrial septal defect, Retrognathia, Cutis ma... OMIM:619758
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Macrocephaly, Cutis marmorata, Shor... OMIM:157980
Ogden Syndrome
Hydrocele testis, High palate, Apnea, Pectus excavatum, Abnormality of the dentition, Short philt... OMIM:300855
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Short nose, Intra... OMIM:616897
Kyphomelic Dysplasia
Cleft palate, Femoral bowing, Depressed nasal bridge, Platyspondyly, Micromelia, Dumbbell-shaped ... OMIM:211350
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... OMIM:227270
Odontochondrodysplasia
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Short stature, Retrognathia, Depre... ORPHA:166272
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Tricuspid stenosis, Barrel-shaped chest, Short neck, Delayed eruption of teeth, Micr... OMIM:143095
Alagille Syndrome
Short distal phalanx of finger, Telangiectasia of the skin, Vertebral segmentation defect, Clinod... ORPHA:52
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Long clavicles, Sho... OMIM:171480
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... OMIM:619343
Orofaciodigital Syndrome Iii
Kyphosis, Bulbous nose, Pectus excavatum, Short sternum, Supernumerary tooth, Bifid tongue, Bifid... OMIM:258850
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... OMIM:274000
Non-Distal Trisomy 10Q
High palate, Pectus excavatum, Convex nasal ridge, Short stature, Everted lower lip vermilion, Mi... ORPHA:1695
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Short neck, Platyspondy... ORPHA:93267
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Hypoplasia of the cor... ORPHA:508498
Thanatophoric Dysplasia, Type I
Macrocephaly, Femoral bowing, Short neck, Platyspondyly, Hypoplastic pelvis, Severe platyspondyly... OMIM:187600
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Thoracic scoliosis, Talipes equinovarus, Metaphyseal cupping... OMIM:616716
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hemivertebrae, Depressed nasal bridge, Tapered finger, Ventricular septal defect, Short nose, Sha... OMIM:301040
Intellectual Developmental Disorder, Autosomal Recessive 35
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Downturned corners of... OMIM:615162
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the uln... ORPHA:357175
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Narrow mouth, Absent thumb, Micropenis, Short stature, Thin vermilion border, Short femur, Short ... OMIM:612447
Scarf Syndrome
Short sternum, Cutis laxa, Bifid scrotum, Micropenis, Craniosynostosis, Short neck, Long philtrum... ORPHA:3134
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Pectus excavatum, Macrocephaly, Cerebral atrophy, Restrictive cardiomyopathy, Abnorm... OMIM:615398
Pallister-Hall-Like Syndrome
Macrocephaly, Cleft palate, Short ribs, Micropenis, Micrognathia, Depressed nasal bridge, Microme... OMIM:241800
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Triangular mouth, Cleft palate, Depressed nasal bridge, Short neck, Ambiguous geni... OMIM:257300
Melnick-Needles Syndrome
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, C... OMIM:309350
Diastrophic Dysplasia
Abnormal clavicle morphology, Macrocephaly, Cleft palate, Cerebral calcification, Depressed nasal... ORPHA:628
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Short 1st metacarpal, Depressed nasal bridge, Short neck, Hypoplasia of the corpus... OMIM:269150
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Short stature, Micrognathia, Short neck, Short nose, Anteverted nares, Abnormal ver... ORPHA:2015
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Bulbous nose, Frontal cortical atrophy, Thin vermilion border, Micrognathia, Death ... OMIM:618766
Cog1-Cdg
High palate, Osteopenia, Short neck, Rhizomelia, Short long bone, Posterior rib gap, Rib fusion, ... ORPHA:263508
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Pectus ca... OMIM:271700
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Stillbirth, Flexion contracture, Short femur, Hypoplas... OMIM:200700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... OMIM:601376
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Macrocephaly, Cleft palate, Craniosynostosis, Hemivertebrae, Short... OMIM:213980
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina bifida occulta, Si... OMIM:613686
Arboleda-Tham Syndrome
Respiratory distress, Wide mouth, Pectus excavatum, Cleft palate, Craniosynostosis, Broad nasal t... OMIM:616268
Pallister-Hall Syndrome
Cleft palate, Hemivertebrae, Depressed nasal bridge, Ventricular septal defect, Y-shaped metacarp... OMIM:146510
Donnai-Barrow Syndrome
Wide anterior fontanel, Macrocephaly, Short sternum, Bicornuate uterus, Malar flattening, Intesti... OMIM:222448
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Depressed... ORPHA:261120
Bartsocas-Papas Syndrome 1
Short metacarpal, Cleft palate, Absent thumb, Short neck, Ambiguous genitalia, Short nose, Hypopl... OMIM:263650
3C Syndrome
Abnormal mitral valve morphology, Macrocephaly, Cleft palate, Atrioventricular canal defect, Hemi... ORPHA:7
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... ORPHA:2990
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cereb... ORPHA:280
Scarf Syndrome
Short sternum, Cutis laxa, Bifid scrotum, Micropenis, Coronal craniosynostosis, Barrel-shaped che... OMIM:312830
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Joint stiffness, Apnea, Secundum atrial septal defect, Conve... OMIM:609069
Ring Chromosome 12 Syndrome
Pectus excavatum, Secundum atrial septal defect, Cryptorchidism, High, narrow palate, Lumbar hype... ORPHA:1439
Distal Monosomy 17Q
Abnormal cardiac septum morphology, Narrow mouth, Short stature, Small hand, Abnormal hip bone mo... ORPHA:1597
Temple Syndrome
High palate, Relative macrocephaly, Cleft palate, Short stature, Flexion contracture, Micrognathi... OMIM:616222
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Malar flattening, Shor... ORPHA:52056
Van Bogaert-Hozay Syndrome
Tooth malposition, Micrognathia, Depressed nasal bridge, Osteolytic defects of the phalanges of t... OMIM:277150
Zttk Syndrome
High palate, Macrocephaly, Craniosynostosis, Abnormality of the dentition, Short philtrum, Hemive... OMIM:617140
Saethre-Chotzen Syndrome
Cleft palate, Long nose, Radioulnar synostosis, Partial duplication of the distal phalanx of the ... OMIM:101400
Coffin-Siris Syndrome 1
High palate, Wide mouth, Short sternum, Cleft palate, Prominent fingertip pads, Cutis marmorata, ... OMIM:135900
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... OMIM:251450
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Secundum atrial septal defect, Microretrognathia, Respiratory insufficiency, Hypoplasia... OMIM:619909
Intellectual Developmental Disorder, Autosomal Recessive 65
Bulbous nose, Atrial septal defect, Secundum atrial septal defect, Low hanging columella, Thin ve... OMIM:618109
Down Syndrome
Atrioventricular canal defect, Ventricular septal defect, Single transverse palmar crease, Sandal... OMIM:190685
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short stature, Short humerus, Short neck, Short femoral neck, Scolio... OMIM:610319
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, Macrocephaly, Cleft palate, Congenital hip dislocation, Short neck, Tape... OMIM:300209
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defect... OMIM:600123
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, V... OMIM:611209
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... ORPHA:93316
Schneckenbecken Dysplasia
Narrow chest, Disproportionate short-limb short stature, Hypoplastic vertebral bodies, Macrocepha... ORPHA:3144
Postaxial Acrofacial Dysostosis
Cleft upper lip, Growth delay, Pectus excavatum, Malar flattening, Micropenis, Cleft palate, Micr... OMIM:263750
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Hypoplasia of the ulna, Ambiguous genitalia,... OMIM:613091
Acrorenal-Mandibular Syndrome
High palate, Hypoplasia of the radius, Uterus didelphys, Hemivertebrae, Rudimentary fibula, Hypop... OMIM:200980
Filippi Syndrome
Hypodontia, Low hanging columella, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... OMIM:272440
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Bulbous nose, Atrioventricular canal defect, Broad nasal tip, Depressed nasal bridge... OMIM:613792
Pelviscapular Dysplasia
Mesomelic leg shortening, Macrocephaly, Short femur, Short stature, Hypoplastic ilia, Congenital ... ORPHA:93333
Congenital Disorder Of Glycosylation, Type Iu
High palate, Respiratory distress, Micrognathia, Scoliosis, Cerebellar hypoplasia, Optic atrophy,... OMIM:615042
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... OMIM:607323
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Relative macrocephaly, Short ribs, Hypoplasia of the radius, ... OMIM:617895
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Macrocephaly, Broad carpal bones, Short neck, ... ORPHA:99646
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Secundum atrial septal defect, Cerebral atrophy, Short stature, Pulmonic stenosis, Ab... OMIM:615802
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Clinodactyly of... ORPHA:3320
Orofaciodigital Syndrome Type 3
Bulbous nose, Pectus excavatum, Short sternum, Abnormality of the dentition, Bifid uvula, Lobulat... ORPHA:2752
Pelvis-Shoulder Dysplasia
Cleft palate, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes equinovarus, N... ORPHA:2839
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Elbow ankylosis, Abnormal external genitalia, Craniosynostosis, Femoral bowing, Dep... ORPHA:95699
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Macroglossia, Short stature, Femoral retroversion, Micromelia, Scoliosis, Oral cleft, D... ORPHA:79107
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Pectus excavatum, Everted lower lip vermilion, Short stature, Thin vermilion border, Broad nasal ... ORPHA:73273
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Mesomelic/rhizome... ORPHA:1354
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Pectus excavatum, Macrocephaly, Finger joint hypermobility, Depressed nasal bridge, Monkey wrench... OMIM:618870
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Macrocephaly, Atrial septal defect, Cleft palate, Craniosynostosis, Micrognathia, Abn... ORPHA:261197
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Cutis marmorata, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single tra... OMIM:614701
Omodysplasia 1
Depressed nasal bridge, Short neck, Ventricular septal defect, Rhizomelia, Short nose, Anterolate... OMIM:258315
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Sagittal craniosynostosis, Plantar flexion contractures, Intrauterine growth reta... ORPHA:2872
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Macrocephaly, Depressed nasal bridge, Short neck, Delayed er... OMIM:264090
Endosteal Hyperostosis, Worth Type
Torus palatinus, Facial palsy, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Rubinstein-Taybi Syndrome 1
High palate, Respiratory distress, Pectus excavatum, Cleft palate, Prominent fingertip pads, Prem... OMIM:180849
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Bulbous nose, ... ORPHA:3310
Spinal Muscular Atrophy With Congenital Bone Fractures 1
High palate, Narrow mouth, Secundum atrial septal defect, Microretrognathia, Flexion contracture,... OMIM:616866
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ... OMIM:114300
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Pectus excavatum, Tapered finger, Foot joint contracture, Talipes eq... ORPHA:536516
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Short stature, Micrognathia, Camptodactyly of finger, Microcephaly, Hypoplasia of t... ORPHA:1495
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,... ORPHA:79345
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Abnormal cardiac septum morphology, Cleft palate, Depressed nasal bridge, S... OMIM:217980
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Vertebral segmen... OMIM:609813
Acromicric Dysplasia
Joint stiffness, Narrow mouth, Abnormality of femur morphology, Severe short stature, Fifth metac... ORPHA:969
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Broad nasal tip, Microcephaly, Long philtrum, Overhanging nasal ti... OMIM:618665
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Pectus excavatum, Short sternum, Macrocephaly, Cleft palate, Depressed nasal bridge, ... OMIM:312870
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Gen... ORPHA:1423
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Short stature, Distal sym... ORPHA:93388
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Cleft palate, Short neck, Micromelia, Anisospondyly, Short long bone, Abnormal heart... ORPHA:1865
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Juberg-Hayward Syndrome
Abnormality of finger, Severe short stature, Dandy-Walker malformation, Hypoplasia of the radius,... ORPHA:2319
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Short stature, Uterus didelphys, Microcephal... ORPHA:2491
Osteopathia Striata-Cranial Sclerosis Syndrome
Macrocephaly, Cleft palate, Cerebral calcification, Delayed eruption of teeth, Abnormal metaphysi... ORPHA:2780
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Abnormality of the d... ORPHA:457395
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Urticaria, Cleft palate, Absent thumb, Hypoplasia of the radius, Polymicrogyria, Radi... OMIM:154400
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Narrow chest, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... OMIM:619598
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Short nose, Mandibular p... ORPHA:1327
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Broad nasal tip, Depre... OMIM:311450
Hydrolethalus Syndrome 1
Cleft palate, Bifid uterus, Anencephaly, Upper limb undergrowth, Ventricular septal defect, Intra... OMIM:236680
C Syndrome
High palate, Wide mouth, Micromelia, Ulnar deviation of finger, Ventricular septal defect, Short ... OMIM:211750
Chromosome 16P13.3 Duplication Syndrome
Short toe, Pectus excavatum, Atrial septal defect, Bulbous nose, Malar flattening, Short phalanx ... OMIM:613458
Wolf-Hirschhorn Syndrome
Cleft palate, Craniofacial asymmetry, Short philtrum, Malrotation of small bowel, Radioulnar syno... OMIM:194190
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... OMIM:265000
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Depr... ORPHA:1248
Pierpont Syndrome
Prominent fingertip pads, Broad nasal tip, Short neck, Short nose, Prominent median palatal raphe... OMIM:602342
Dyggve-Melchior-Clausen Syndrome, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... OMIM:304950
Microcephaly-Micromelia Syndrome
Cleft palate, Craniosynostosis, Short neck, Micromelia, Simplified gyral pattern, Intrauterine gr... OMIM:251230
Moebius Syndrome
High palate, Facial diplegia, Respiratory distress, Abnormality of the dentition, Depressed nasal... OMIM:157900
Mmep Syndrome
Split foot, Microcephaly, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median clef... ORPHA:3434
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upp... ORPHA:75508
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Secundum atrial septal defect, Cleft palate, Pulmonic stenosis, Respiratory insuffic... OMIM:612541
Cranioectodermal Dysplasia 1
High palate, Pectus excavatum, Microdontia, Single transverse palmar crease, Rhizomelia, Sagittal... OMIM:218330
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Large basal gangli... OMIM:210600
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Congenital Disorder Of Glycosylation, Type Ih
Talipes equinovarus, Short neck, Long philtrum, Neonatal death, Camptodactyly, Protein-losing ent... OMIM:608104
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Anal atresia, Clinodactyly of the 5th finger, Aplasia/Hypopla... ORPHA:1352
Occipital Horn Syndrome
High palate, Pectus excavatum, Hiatus hernia, Orthostatic hypotension, Platyspondyly, Pectus cari... OMIM:304150
Achondrogenesis Type 1B
Narrow chest, Macrocephaly, Severe short stature, Talipes equinovarus, Micrognathia, Short neck, ... ORPHA:93298
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... ORPHA:163649
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Short stature, Camptodactyly of finger, Bra... ORPHA:1937
Metatropic Dysplasia
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspondyly, Disproportio... OMIM:156530
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Convex nasal ridge, Craniosynostosis, Microcephaly, Dry skin, Oral cleft, Lo... OMIM:218650
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short stature, Short humerus, Micro... ORPHA:2019
Branchiooculofacial Syndrome
Malrotation of colon, Cleft palate, Abnormality of the dentition, Broad nasal tip, Short neck, De... OMIM:113620
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Pectus excavatum, Talipes equinovarus, Cleft palate, Camptodac... OMIM:614399
Yunis-Varon Syndrome
High palate, Absent thumb, Short philtrum, Down-sloping shoulders, Birth length less than 3rd per... OMIM:216340
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Macrocephaly, Severe short stature, Multiple rib fractures, Mi... ORPHA:93299
W Syndrome
Radial bowing, Broad nasal tip, Depressed nasal bridge, Camptodactyly, Hypoplasia of the ulna, Br... ORPHA:2804
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Gingival overgrowth, Relative macrocephaly, Triangular mouth, Short statur... OMIM:618529
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Short stature, Hemivertebra... OMIM:608406
Cornelia De Lange Syndrome 5
High palate, Cleft palate, Cutis marmorata, Broad nasal tip, Short neck, Depressed nasal bridge, ... OMIM:300882
Metatropic Dysplasia
Narrow chest, Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Severe short stature, Co... ORPHA:2635
Mental Retardation, X-Linked 91
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Cubitus valgus, Short foot, C... OMIM:300577
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Cleft palate, Short stature, Hypoplasia of the radius, Absent thumb, Radio... OMIM:614900
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Wide mouth, Hypospadias, Micrognathia, Microcephaly, Scoliosis, Hypoplasia ... OMIM:300934
Aicardi Syndrome
Hiatus hernia, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cerebellum, Optic disc col... ORPHA:50
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Joint stiffness, Tooth agenesis, Cerebral cortical atrophy, Cleft ... ORPHA:1166
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cerebral atrophy, Cleft palate, Short statu... OMIM:614261
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin ver... ORPHA:2631
Halperin-Birk Syndrome
High palate, Talipes equinovarus, Flexion contracture, Micrognathia, Death in childhood, Agenesis... OMIM:618651
8Q24.3 Microdeletion Syndrome
Respiratory distress, Pectus excavatum, Atrioventricular canal defect, Broad nasal tip, Congenita... ORPHA:508488
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Retrognathia, Thin vermili... OMIM:612938
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Thoracic... OMIM:618363
Neuralgic Amyotrophy
Sprengel anomaly, Narrow mouth, Cleft palate, Short stature, Respiratory insufficiency, Scapular ... ORPHA:2901
Recombinant Chromosome 8 Syndrome
Pectus excavatum, Abnormality of the dentition, Depressed nasal bridge, Ventricular septal defect... OMIM:179613
Perching Syndrome
High palate, Respiratory distress, Flexion contracture, Depressed nasal bridge, Camptodactyly OMIM:617055
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Cleft palate, Long nose, 11 pairs of ribs, Intrauterine growth retardation, Short long bone, Join... OMIM:619184
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... OMIM:249700
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Short stature, Thin vermilion... OMIM:156510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapere... OMIM:612350
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Macrocephaly, External genital hypoplasia, Cleft palate, Slender finger, Abnormality... ORPHA:251028
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Short neck, Micromelia, Severe platyspondyly, Short nose, Short long bone... OMIM:613320
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Pectus carinatum, Abnormality of t... ORPHA:64755
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Wide mouth, Cleft upper lip, Cleft palate... ORPHA:1394
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Malar flattening, Short stature, Cleft palate, Micrognathia, Craniosynostosis... ORPHA:2145
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Severe postnatal growth retardation, Narrow nose, El... OMIM:249600
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Hypospadias, Micrognathia, Depressed nasal bridge, Scoliosis, ... ORPHA:1913
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Malar flattening, Bilateral talipes equinovarus, Short stature, Brachydacty... OMIM:608571
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pectus excavatum, Short stature, Pulmonic stenosis, Thin vermilion border, Brachydactyly, Carious... ORPHA:2701
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, 2-3 toe syndactyly, Atrial septal defect, Pulmonic st... ORPHA:3304
Intellectual Developmental Disorder, Autosomal Dominant 66
Clinodactyly of the 5th finger, Pectus excavatum, Secundum atrial septal defect, Toe clinodactyly... OMIM:619910
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Bicornuate uterus, Absent thumb, Hand o... OMIM:156810
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... ORPHA:2712
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Growth delay, Clinodactyly of the 5th finger, Cleft palate, Micrognathia, Abnormalit... ORPHA:576283
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis, Secundum atrial septal defect, Abnormality of fibular epiphyses, Rhizomelic arm s... ORPHA:96190
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Thin ribs, Short... OMIM:618395
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Disproportionate short-... ORPHA:174
Myhre Syndrome
Abnormal cardiac septum morphology, External genital hypoplasia, Cleft palate, Abnormality of the... ORPHA:2588
Aicardi Syndrome
Hiatus hernia, Cleft palate, Hemivertebrae, Optic disc coloboma, Polymicrogyria, Optic atrophy, B... OMIM:304050
Lujan-Fryns Syndrome
High palate, Pectus excavatum, Atrial septal defect, Macrocephaly, Arachnodactyly, Micrognathia, ... ORPHA:776
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bulbous nose, Depressed nasal bridge, Short philtrum, Short neck, Birth length less than 3rd perc... OMIM:618622
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Down-sloping shoulders, Short neck, Tapered finger, Hypoplasia of the corpus callosu... OMIM:617452
Fanconi Anemia
High palate, Abnormal cardiac septum morphology, Abnormality of femur morphology, Absent testis, ... ORPHA:84
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Respiratory distress, Pectus carinatum, Hypoplasia of the corpus callosum, Optic atr... OMIM:619383
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Abnormality of the nares, Short humerus, L... ORPHA:2878
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Wide mouth, Pectus excavatum, Atrial septal defect, Clinodactyl... OMIM:249630
Cardioacrofacial Dysplasia 2
Narrow chest, Accessory oral frenulum, Clinodactyly of the 5th finger, Prominent nasal tip, Hypod... OMIM:619143
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Severe short stature, Back pain, Short... OMIM:277300
Rhizomelic Syndrome, Urbach Type
High palate, Abnormality of the tongue, Cleft palate, Depressed nasal bridge, Short neck, Abnorma... ORPHA:3098
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Joint stiffness, Narrow mouth, Short stature, Thin vermilion border, Micrognathia, Adducted thumb... ORPHA:1150
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... OMIM:314390
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Death in childhood, Microcephaly, Tapered finger, Acrocyanosis, Short finger OMIM:302000
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Taper... ORPHA:251071
Postaxial Acrofacial Dysostosis
Cleft palate, Malar flattening, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, ... ORPHA:246
Mcdonough Syndrome
Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Atrial septal defect, Aortic valve stenosi... OMIM:248950
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... ORPHA:1801
Mosaic Trisomy 14
Narrow chest, High palate, Wide mouth, Ectopic anus, Hypoplasia of penis, Cleft palate, Hypospadi... ORPHA:1703
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Overlapping toe, Narrow mouth, Kyphoscoliosis, External genital hypop... OMIM:600118
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Petechiae, Secundum atrial septal defect, Thin ribs, Cerebra... OMIM:617397
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Cleft palate, Pyloric stenosis, Single transverse palmar crease, Intrauteri... ORPHA:83617
Pierpont Syndrome
Prominent fingertip pads, Short neck, Primary microcephaly, Abnormal subcutaneous fat tissue dist... ORPHA:487825
Distal Monosomy 1Q
Short stature, Thin vermilion border, Micrognathia, Depressed nasal bridge, Microcephaly, Smooth ... ORPHA:36367
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Depressed nasal bridge, Cutaneous syndactyly, Monkey wrench femor... OMIM:615777
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Bulbous nose, Pectus excavatum, Depressed nasal bridge, Short philtrum, Tapered fing... OMIM:617061
Diaphanospondylodysostosis
Respiratory distress, Unossified sacrum, Cleft palate, Depressed nasal ridge, Depressed nasal bri... OMIM:608022
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Thin ribs, Short stature, Depressed nasal ridge, Micrognathia, Short philtrum, Platys... ORPHA:163966
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
Rhizomelic Chondrodysplasia Punctata, Type 3
Disproportionate short-limb short stature, Short femur, Short humerus, Rhizomelia, Epiphyseal sti... OMIM:600121
Cortical Blindness, Retardation, And Postaxial Polydactyly
Long philtrum, Short nose, Microretrognathia OMIM:218010
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal clavicle morphology, Asymmetry of the thorax, Abnormal morphology of ul... ORPHA:1350
Kniest Dysplasia
Respiratory distress, Pectus excavatum, Cleft palate, Depressed nasal bridge, Short neck, Platysp... OMIM:156550
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Facial diplegia, Kyphosis, Talipes equinovarus, Cerebral atrophy, Retrognathia, Micr... OMIM:611890
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed... OMIM:616331
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Short philtrum, Tapered finger, Ventricul... ORPHA:3472
Stickler Syndrome, Type I
Pectus excavatum, Cleft palate, Depressed nasal bridge, Platyspondyly, Joint stiffness, Spondylol... OMIM:108300
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Dental crowding, Pectus excavatum, Cutis marmorata, Long nose, Finger clinodactyly, ... OMIM:617602
Meier-Gorlin Syndrome 1
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Hemivertebrae, Birth lengt... OMIM:224690
Kbg Syndrome
Cutaneous syndactyly, Short neck, Macrodontia, Single transverse palmar crease, Tented upper lip ... OMIM:148050
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Short stature, Microcephaly, Long philtrum, Tetralogy of Fallot, Hypoplasia... OMIM:300887
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Insulin-Like Growth Factor I, Resistance To
High palate, Reduced subcutaneous adipose tissue, Pectus excavatum, Hypoplasia of the corpus call... OMIM:270450
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of a... OMIM:616809
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of... OMIM:181450
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Macrocephaly, Short stature, Depressed nasal bridge, Wide nasal bridge... ORPHA:1513
Verheij Syndrome
Abnormal cardiac septum morphology, Cerebral atrophy, Short stature, Vertebral fusion, Hemiverteb... OMIM:615583
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Atrial septal defect, Microretrognathia, Adducted thumb, Cerebral calcifica... ORPHA:89844
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Achondrogenesis
Narrow chest, Macrocephaly, Severe short stature, Micrognathia, Short neck, Long philtrum, Microm... ORPHA:932
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Pectus excavatum, Slender finger, Short philtrum, Down-sloping shoulders, Short neck, Hypoplasia ... ORPHA:391408
Ruvalcaba Syndrome
Dental crowding, Cone-shaped epiphysis, Micromelia, Pectus carinatum, Short nose, Intrauterine gr... ORPHA:3121
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Narrow mouth, Decreased palmar creases, Atrial septal defect, Joint contracture of the ... ORPHA:352490
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Charge Syndrome
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Hemivert... OMIM:214800
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Cleft palate, Short stature, Coronal craniosynostosis, Micrognathia, Bra... OMIM:614078
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Slender nose, Micrognathia, Decreased motor nerve conduction velocity, Microcephaly, ... OMIM:615419
Distal Trisomy 18Q
High palate, Pectus excavatum, Clinodactyly of the 5th finger, Hypoplasia of penis, Arachnodactyl... ORPHA:1716
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Malar flattening, Micropenis, Thin vermilion border, Hypospadias, Micrognathia,... ORPHA:171839
Steinfeld Syndrome
Hypoplasia of the radius, Aplasia of the nose, Abnormality of the vertebral column, Bifid uvula, ... OMIM:184705
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Death in adolescence, Neonatal death, Scoliosis, Camptodactyly,... OMIM:619751
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Severe short stature, Hypoplasia of the radius, Broad hallux phalanx, Micromelia... ORPHA:2249
Tetrasomy 5P
High palate, Respiratory distress, Pectus excavatum, Macrocephaly, Short neck, Short nose, Clinod... ORPHA:3309
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Narrow mouth, Precocious puberty,... OMIM:619356
Short Stature-Micrognathia Syndrome
High palate, 2-3 toe syndactyly, Coxa valga, Cleft palate, Short stature, Micropenis, Hypospadias... OMIM:617164
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Cleft palate, Short stat... OMIM:608572
Ruvalcaba Syndrome
Narrow chest, Kyphosis, Short metacarpal, Short stature, Small hand, Microcephaly, Micromelia, Sh... OMIM:180870
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Narrow mouth, Micrognathia, Depressed nasal bridge, Microcephaly, Long philtrum, Hyp... OMIM:613457
Codas Syndrome
Coronal cleft vertebrae, Short metacarpal, Short stature, Depressed nasal bridge, Congenital hip ... ORPHA:1458
2Q32Q33 Microdeletion Syndrome
High palate, Cleft palate, Clinodactyly of the 5th finger, Talipes equinovarus, Toe clinodactyly,... ORPHA:251019
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb underg... ORPHA:56304
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphysea... OMIM:618961
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... OMIM:220210
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck, Platyspondyly, F... ORPHA:1427
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Facial diplegia, Cortical sclerosis, Macrocephaly, Diaphyseal sclerosis, Short st... OMIM:122860
Mietens Syndrome
Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Severe short stature, Elbow ankylosis... ORPHA:2557
Diamond-Blackfan Anemia 1
High palate, Cleft palate, Absent thumb, Tricuspid stenosis, Hypoplasia of the radius, Hypoplasti... OMIM:105650
Cornelia De Lange Syndrome 2
High palate, Short stature, Small hand, Micrognathia, Cutis marmorata, Short neck, Brachydactyly,... OMIM:300590
Dystonia, Juvenile-Onset
Cleft upper lip, Hypoplastic scapulae, Kyphoscoliosis, Cleft palate OMIM:607371
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Flexion contracture, Thin vermilion border, Micrognathia, Microcephaly, Death i... OMIM:608540
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Respiratory distress, Atrioventricular canal defect, Congenital hip disl... OMIM:306955
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... ORPHA:401935
Catel-Manzke Syndrome
High palate, Pectus excavatum, Cleft palate, Short neck, Pectus carinatum, Ventricular septal def... OMIM:616145
20P12.3 Microdeletion Syndrome
Narrow mouth, Macrocephaly, Atrial septal defect, Malar flattening, Short stature, Depressed nasa... ORPHA:261295
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Short stature, Craniosynostosis, Micrognathia, Hypoplastic dista... ORPHA:93329
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Narrow chest, Trident pelvis, Disproportionate short-limb short stature, Flexion contracture, Mic... OMIM:619479
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Macrocephaly, External genital hypoplasia, Cleft palate, Elbow ankylosis, Symphalangi... ORPHA:2658
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Atrial septal defect, Slender finger, Malar flattening, Short stature, Clef... OMIM:610536
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cleft palate, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carina... OMIM:183900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cerebral hypoplasia, Gingival overgrowth, Short stature, Recurrent upper respiratory tract infect... ORPHA:508542
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Delayed erupt... ORPHA:96170
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Abnormal external genitalia, Depressed nasal ridge, Depressed nasal bridge, 11 pairs... OMIM:607872
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... ORPHA:439822
3P25.3 Microdeletion Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, 2-3 finger syndactyly, Tapered finger, Vent... ORPHA:435638
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, High, narrow palate, Small hand, Micrognathia, Depressed na... OMIM:608799
Roifman Syndrome
Ventricular septal defect, Single transverse palmar crease, Intrauterine growth retardation, Clin... OMIM:616651
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Joint stiffness, High, narrow palate, Cleft palate, Micrognathia,... ORPHA:2516
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Depressed nasal ridge, Short neck, Micromelia, Rhizomelia, Abnor... ORPHA:1842
Pallister-Hall Syndrome
Macrocephaly, Cleft palate, Atrioventricular canal defect, Depressed nasal ridge, Hemivertebrae, ... ORPHA:672
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge,... ORPHA:40
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Precocious puberty, Cleft palate, Short stature, Small hand, Micrognat... ORPHA:96184
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Bulbous nose, Atrial septal defect, Malar flattening, Short stature, Cleft palate, ... ORPHA:93946
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Micropenis, Retrognathia, Micrognathia, Bilat... OMIM:618142
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Respiratory distress, Pectus excavatum, Slender long bo... ORPHA:536467
Filippi Syndrome
Short philtrum, Ventricular septal defect, Optic atrophy, Intrauterine growth retardation, Clinod... ORPHA:3255
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... ORPHA:99413
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... ORPHA:2759
Mosaic Monosomy X
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... ORPHA:99228
Monosomy X
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... ORPHA:99226
Turner Syndrome
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... ORPHA:881
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Micromelia, Short neck, Metaphyseal irregularity, Narrow greater sciatic notch, Sh... OMIM:602557
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... ORPHA:3201
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Fetal Alcohol Syndrome
Vertebral segmentation defect, Joint stiffness, Atrial septal defect, Cleft palate, Short stature... ORPHA:1915
Craniofaciofrontodigital Syndrome
Dental malocclusion, Pectus excavatum, Hypoplastic vertebral bodies, Macrocephaly, Short stature,... OMIM:114620
Neurofibromatosis-Noonan Syndrome
Pectus excavatum, Secundum atrial septal defect, Macrocephaly, Malar flattening, Short stature, P... OMIM:601321
Mucopolysaccharidosis Type 4
Wide mouth, Macrocephaly, Abnormality of the dentition, Short neck, Platyspondyly, Pectus carinat... ORPHA:582
Paget Disease Of Bone 5, Juvenile-Onset
Premature loss of teeth, Recurrent fractures, Kyphosis, Macrocephaly, Increased bone mineral dens... OMIM:239000
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Abnormal cardiac septum morphology, Short philtrum, Carious ... OMIM:613026
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cleft palate, Absent thumb, Hemivertebrae, Short philtrum, Depressed nasal bridge, Hypoplasia of ... ORPHA:500150
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Respiratory insufficiency due to muscle weakness, Flexion ... ORPHA:1143
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, High palate, Bulbous nose, Macrocephaly, Malar flattening, Hemivertebrae, Depre... ORPHA:2180
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Short neck, Tapered finger, Ventricular septal defect, Limb joint contracture, Intra... ORPHA:505237
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... OMIM:608681
8Q22.1 Microdeletion Syndrome
Depressed nasal ridge, Craniosynostosis, Abnormality of the dentition, Camptodactyly of finger, L... ORPHA:178303
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... ORPHA:536471
Nicolaides-Baraitser Syndrome
Wide mouth, Excessive wrinkled skin, Abnormal epiphysis morphology, Sandal gap, Thick nasal alae,... ORPHA:3051
Zechi-Ceide Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Thin vermilion border, Short ... ORPHA:217017
Aarskog-Scott Syndrome
Testicular atrophy, Pectus excavatum, Cleft palate, Short neck, Single transverse palmar crease, ... OMIM:305400
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly, ... ORPHA:3303
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... ORPHA:90653
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Macrocephaly, Triangular mouth, Clef... OMIM:200990
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short stature, Short middle phalanx o... OMIM:614326
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Hamartoma of tongue, Postaxial hand polydactyly, Broad hallux, Subvalvular... OMIM:217085
Craniofaciofrontodigital Syndrome
Respiratory distress, Finger joint hypermobility, Osteopenia, Depressed nasal bridge, Pectus cari... ORPHA:363705
Chung-Jansen Syndrome
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Tapered finger, ... OMIM:617991
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Short stature, ... OMIM:169550
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Wide mouth, Atrial septal defect, Short stature, Arachnodactyly, ... OMIM:616938
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Pectus carinatum, Genu valgum, Short long bone, Cleft upper lip, Aceta... OMIM:225500
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Pie... OMIM:619980
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Micrognathia, Short philtrum, Scoliosis, Ventricular septal defect, Widely-... OMIM:608227
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Depressed nasal bridge, Ventricular septal defect, Abnormal heart morphology, Posta... ORPHA:404440
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Craniosynostosis, Short stature, Micrognathia, Abnormality of the dentition, Depressed nasal brid... OMIM:616901
Otopalatodigital Syndrome, Type I
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad... OMIM:311300
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Respiratory distress, External genital hypoplasia, Micrognathia... ORPHA:329178
Achondroplasia
Macrocephaly, Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Thoracic h... ORPHA:15
Zimmermann-Laband Syndrome 3
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... OMIM:618658
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abno... ORPHA:2345
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
19P13.3 Microduplication Syndrome
Cleft palate, Short philtrum, Ventricular septal defect, Hip subluxation, Intrauterine growth ret... ORPHA:447980
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Wide mouth, Bulbous nose, Cleft palate, Depressed nasal bridg... OMIM:618454
Stuve-Wiedemann Syndrome 1
Apnea, Pursed lips, Femoral bowing, Short neck, Carious teeth, Ulnar deviation of finger, Single ... OMIM:601559
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... ORPHA:2484
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Disproportionate short-limb short stature, Hypoplastic left heart, Hypoplasi... ORPHA:2772
Renpenning Syndrome
Pectus excavatum, Cleft palate, Short philtrum, Macrodontia, Mandibular prognathia, Sprengel anom... ORPHA:3242
Mucopolysaccharidosis, Type Iva
Wide mouth, Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beakin... OMIM:253000
Coffin-Siris Syndrome 6
Kyphoscoliosis, Pectus excavatum, Atrial septal defect, High, narrow palate, Cleft palate, Short ... OMIM:617808
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... ORPHA:168549
Desmosterolosis
Anomalous pulmonary venous return, Macrocephaly, Cleft palate, Depressed nasal bridge, Micromelia... ORPHA:35107
Radio-Renal Syndrome
Respiratory distress, Severe short stature, High, narrow palate, Chylothorax, Convex nasal ridge,... ORPHA:3015
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short neck, Short nose, Rocker bottom fo... OMIM:193700
Lowry-Maclean Syndrome
Cleft palate, Atrioventricular canal defect, Craniosynostosis, Osteopenia, Pyloric stenosis, Sing... ORPHA:2409
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Prominent sternum, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyl... OMIM:300232
Loeys-Dietz Syndrome 5
High palate, Reduced subcutaneous adipose tissue, Pectus excavatum, Hiatus hernia, Cleft palate, ... OMIM:615582
Diaphanospondylodysostosis
Respiratory distress, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, ... ORPHA:66637
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Microcephaly, Ventricular septal defect, Clinodactyly, ... OMIM:618506
Carpenter Syndrome 1