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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar... OMIM:228520
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Cryptor... ORPHA:1988
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Everted lower lip vermilion, High palate, Short nose, Anterior open-bite malocclusion, Pierre-Rob... OMIM:617877
Tarp Syndrome
Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Atrial septal defect, Bilateral ... OMIM:311900
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Hip contracture, High palate, Irregular vertebral endplates, Osteopenia, Disproport... OMIM:222765
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, C... OMIM:619142
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... OMIM:224300
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Narrow mouth, ... OMIM:611209
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Rhizomelia, Hypoplastic scapulae, Flared metaphysis, Dislocated radial head, Delayed ossification... OMIM:602471
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Pectus carinatum, Broad thumb, Secundum atrial septal defect, Clinodactyly, Hyperplas... OMIM:620194
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abnormality ... ORPHA:2616
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... ORPHA:1452
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Postnatal growth retardation, Hypoplasia of the corpus callosum, Agenesis... OMIM:620113
Acrodysostosis
Open bite, Abnormal female external genitalia morphology, Open mouth, Cryptorchidism, Bowing of t... ORPHA:950
Tarp Syndrome
Finger syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Talipes equinovarus, Atrial septal... ORPHA:2886
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Cryptorchidi... OMIM:108720
Omodysplasia 2
Limited elbow flexion, Micrognathia, Cryptorchidism, Dislocated radial head, Hypospadias, Hypopla... OMIM:164745
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... ORPHA:958
Frank-Ter Haar Syndrome
Micrognathia, Hypoplasia of the corpus callosum, Mitral valve prolapse, Bowing of the long bones,... OMIM:249420
Cornelia De Lange Syndrome 1
Cutis marmorata, Micrognathia, Cryptorchidism, Ventricular septal defect, Hypoplastic labia major... OMIM:122470
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Secondary microcephaly, Micrognathia, High palate, Short nose, Eruption failure, Primary microcep... ORPHA:476126
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met... OMIM:200600
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Irregular dentition, Hypoplasia of ... OMIM:602535
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Chordee, Short neck,... OMIM:166250
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Disprop... ORPHA:85166
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i... OMIM:210720
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Short ne... OMIM:257300
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty... OMIM:186500
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal de... OMIM:620076
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Cleft upper lip, Short ... OMIM:600987
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, Cleft lip, Hama... OMIM:617925
Hamamy Syndrome
Micrognathia, Cryptorchidism, Everted lower lip vermilion, Atrial septal defect, High palate, Syn... OMIM:611174
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Wide nasal bridge, Short thorax, Abnormal rib morphology, Abnormal morpholo... ORPHA:1797
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Short 1st metacarpal, Atrioventricular canal defect, Postnatal grow... OMIM:619135
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Op... ORPHA:1507
Sandestig-Stefanova Syndrome
Wide nasal bridge, Clinodactyly, Retrognathia, Muscular ventricular septal defect, Intrauterine g... OMIM:618804
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Hypoplastic left heart, Microglossia, Microretrognathia, Sandal gap, Short tibi... ORPHA:1972
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Neonatal death, Ventricular septal defect, Short neck, Short f... OMIM:269860
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Cryptorchidism, Short neck, Hypospadias, Abnormal morphology of female interna... ORPHA:2311
Catel-Manzke Syndrome
Scoliosis, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness... ORPHA:1388
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar f... ORPHA:217340
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Bifid uvula, Secundum atrial septal defect, Downturned corners of mouth, Long philtrum, Proximal ... OMIM:619121
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Dis... ORPHA:1856
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Hi... OMIM:620662
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpus call... OMIM:608779
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... OMIM:600920
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Monosomy 18Q
Aortic valve stenosis, Open mouth, Arachnodactyly, Talipes equinovarus, High palate, Biparietal n... ORPHA:1600
Robinow Syndrome
Flared nostrils, Tooth malposition, Small scrotum, Ankyloglossia, Marked delay in eruption of per... ORPHA:97360
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel... ORPHA:440354
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Patellar hypoplasia, Intrauterine growth retardation, Apnea, Micro... ORPHA:2257
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2256
Chromosome 9P Deletion Syndrome
Dermatoglyphic variants, Micrognathia, Narrow mouth, Ventricular septal defect, Short neck, Atria... OMIM:158170
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Velopharyngeal insufficiency, Thick upper lip vermilion, Overlapping toe, Atrial s... ORPHA:363444
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syn... OMIM:308050
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Hypoplasia of the corpus callosum, Mitra... OMIM:618371
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Cerebrocostomandibular Syndrome
Carious teeth, Postnatal growth retardation, Cleft soft palate, Micrognathia, Bell-shaped thorax,... OMIM:117650
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Recurrent upper respiratory tract infections, Short tibia, Sandal gap,... OMIM:607143
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Leth... OMIM:187601
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defec... OMIM:264480
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Hypoplasia of the corpus callosu... OMIM:600373
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Cleft palate, Hypop... OMIM:602196
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Bifid... ORPHA:93328
Campomelic Dysplasia
Micrognathia, Bowing of the long bones, Talipes equinovarus, Male pseudohermaphroditism, Short ne... ORPHA:140
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Depressed nasal bridge, Secundum atrial septal defect, Everted upper lip vermilion, Sandal gap, C... OMIM:619951
Catel-Manzke Syndrome
Narrow naris, Postnatal growth retardation, Ulnar deviation of the 2nd finger, Genu valgum, Narro... OMIM:616145
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Abnormal ster... ORPHA:166016
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Diamond-Blackfan Anemia 7
Osteopenia, Choanal atresia, Small hypothenar eminence, Secundum atrial septal defect, Short thum... OMIM:612562
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Respiratory distress, Intrauterine growth retardation, Gingi... ORPHA:1832
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Short nose, Micrognathia, Narrow mouth, Cryptorchidis... ORPHA:96097
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Radial deviation of the hand, Short thumb, Retrognathia, Microgna... OMIM:227270
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Tracheomalacia, Respiratory distress, Aglossia, Micr... OMIM:202650
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Pulmonic stenosi... OMIM:212780
Ulbright-Hodes Syndrome
Thin ribs, Clitoral hypertrophy, Postnatal growth retardation, Fibular aplasia, Enlarged labia mi... ORPHA:3404
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal mitral valve mo... ORPHA:1277
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Microcephaly, Radioulnar synos... ORPHA:3268
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... ORPHA:166272
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Dry skin, Micrognathia, ... OMIM:210710
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short nose, Intrau... ORPHA:2370
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morpho... ORPHA:2021
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Erythema, Abnormal vertebral morphology, Carpal synostosis, Microgna... OMIM:218600
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Temporomandibular joint ankylo... ORPHA:141152
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hypermobility, Microcephaly, Everted ... ORPHA:1695
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Intrauterine growth retard... ORPHA:52
Thanatophoric Dysplasia, Type I
Neonatal death, Bowing of the long bones, Short neck, Short greater sciatic notch, Small abnormal... OMIM:187600
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, Short neck, High... OMIM:619110
Chromosome 1P36 Deletion Syndrome, Proximal
Bifid nasal tip, Cleft lip, Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coro... OMIM:619343
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... OMIM:143095
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Ventricular septal defect... OMIM:616897
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Bifid nasal tip, Broad nasal tip, Growth delay, Secundum atrial septal defect, Retrognathia, Olig... OMIM:619758
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella, Ventricula... OMIM:617063
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Postnatal growth retardation, Aplasia/Hypoplasia of the pubic bone, Hypoplasia of ... OMIM:269150
Verheij Syndrome
Clinodactyly, Branchial cyst, Ventricular septal defect, Short neck, Hip dislocation, Short nose,... OMIM:615583
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Overlapping toe, Micrognathia, Hypoplasia of the corpus callosum, T... OMIM:213980
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Secondary microcephaly, Hypoplasia of th... ORPHA:508488
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidi... OMIM:146510
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Kyphosis, Bulbous nose, Microdontia, Short sternum, Post... OMIM:258850
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Perching Syndrome
Depressed nasal bridge, Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, High pa... OMIM:617055
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Aplasia/Hypoplasia of the corpus callosum, Intestinal ma... OMIM:222448
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Clinodactyly, Postnatal growth retardation, Protruding tongue, Cryptorchidism, Ventricular septal... OMIM:301040
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Dry skin, Micrognathia, Talipes equinovarus, Hypopl... OMIM:263650
Acromesomelic Dysplasia 2A
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi... OMIM:200700
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Agenesis of corpus callosu... OMIM:134780
Scarf Syndrome
Wide nasal base, Pectus carinatum, Perineal hypospadias, Long philtrum, Bifid scrotum, Abnormal f... ORPHA:3134
Ogden Syndrome
Flared nostrils, Everted upper lip vermilion, Facial wrinkling, Thick upper lip vermilion, Postna... OMIM:300855
Leopard Syndrome 1
Cryptorchidism, Aplasia of the ovary, Limited elbow movement, Mitral valve prolapse, Short neck, ... OMIM:151100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Hypoplasia of the corpus call... ORPHA:508498
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Micrognathia, Narrow mou... ORPHA:261120
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Micrognathia, Thin upper lip vermilion, Short ne... ORPHA:2015
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Downtu... ORPHA:93267
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Cryptorchidism, Fibula... OMIM:612447
Rhizomelic Chondrodysplasia Punctata, Type 5
Irregular capital femoral epiphysis, Metaphyseal irregularity, Metaphyseal cupping, Contractures ... OMIM:616716
Microcephaly 30, Primary, Autosomal Recessive
Cerebral cortical atrophy, Secundum atrial septal defect, Intrauterine growth retardation, Cleft ... OMIM:620183
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Long philtrum, Downturned corners of mouth, Thick nasal alae, Micrognathia, Malar f... OMIM:615162
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Genu valgum, Micrognathia, Mitral valve prolapse, Anteri... OMIM:309350
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Arachno... ORPHA:280
Snijders Blok-Campeau Syndrome
Wide nasal bridge, Widely spaced teeth, Prominent nose, Joint hypermobility, Taurodontia, Perimem... OMIM:618205
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Abnormality of the dentition, Osteopenia, Restrictive cardiomyopathy... OMIM:615398
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Partial duplication of the distal phalanx of the 3rd finger, Toe syn... OMIM:101400
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Long philtrum, Thick nasal alae, Micrognathia, Malar flattening, Thin upper lip ver... ORPHA:357175
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Cerebral calcification, Micrognathia, Cryptorc... ORPHA:628
Cog1-Cdg
Temporal cortical atrophy, Postnatal growth retardation, Micrognathia, Narrow mouth, Talipes equi... ORPHA:263508
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Malar flattening, Tal... ORPHA:52056
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Talipes equinovarus, Micropenis, Anal atresia, Cone-shaped epiphysis... OMIM:613091
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Hand clenching, Depressed nasal bridge, Parietal cortical atrophy, Bulbous nose, M... OMIM:618766
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Micrognathia, Abnormal mi... ORPHA:7
Zttk Syndrome
Small hand, Narrow mouth, Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial se... OMIM:617140
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen... OMIM:607323
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... ORPHA:95699
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Postnatal growth retardation, Cutis marmorata, Cryptorchidism, Hypoplasia o... OMIM:135900
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Down Syndrome
Atlantoaxial dislocation, Open mouth, Narrow mouth, Protruding tongue, Ventricular septal defect,... ORPHA:870
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Choanal atresia, Short thumb, Cleft upper lip, Supernu... OMIM:263750
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Limitation of joint mobility, Finger syndactyly, Micrognathia, Cryptorchidism, Hig... ORPHA:2990
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Cerebellar vermis hypoplasia, Secundum atrial septal defect, Second... OMIM:620242
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Wide nasal bridge, Abnor... OMIM:312830
Nemaline Myopathy 9
Narrow chest, Micrognathia, Ventricular septal defect, High palate, Scoliosis, Arthrogryposis mul... OMIM:615731
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s... OMIM:190685
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ... OMIM:173800
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, ... ORPHA:3144
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Abnormal heart morphology, Micrognathia, Abnormal aortic valve mor... ORPHA:261197
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Overlapping toe, Micrognathia, Cryptorchidism, Anal atresia, High p... OMIM:613792
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Redundant neck skin, Sprengel anomaly, Scapular winging, Short stature... ORPHA:2901
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol... ORPHA:2839
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Ventricular septal defect, S... OMIM:616268
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of t... OMIM:277150
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Bulbous nose, Prominent nasal bridge, Cryptorchidism, Hypoplasia o... OMIM:618109
Ring Chromosome 12 Syndrome
High, narrow palate, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Gla... ORPHA:1439
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Bifid uvula, Abnormality of the dentition, Postaxial foot polydacty... ORPHA:2752
Myopathic Ehlers-Danlos Syndrome
Joint contracture of the hand, Poor wound healing, Micrognathia, Talipes equinovarus, High, narro... ORPHA:536516
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Abnormal tri... ORPHA:1354
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Death in early adulthood, Orofacial cleft, Femoral retroversion... ORPHA:79107
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Congenital contracture, Respiratory distress, Secondary microcephaly, Micrognathia... OMIM:615042
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Postnatal growth retardation, Bell-shaped thorax, Death in child... OMIM:613320
Pontocerebellar Hypoplasia, Type 17
Cerebellar vermis hypoplasia, Microretrognathia, Secundum atrial septal defect, Hypoplasia of the... OMIM:619909
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Distal Deletion 17Q
Optic atrophy, Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies... ORPHA:1597
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Filippi Syndrome
Wide nasal bridge, Optic atrophy, 2-4 toe syndactyly, Finger clinodactyly, Underdeveloped nasal a... OMIM:272440
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Micrognathia, Cryptorchidism, Abnormal mitral valve morphology,... ORPHA:3310
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypo... ORPHA:2491
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Wolf-Hirschhorn Syndrome
Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Radioulnar ... OMIM:194190
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Bifid uvula, Abnormality of the dentition, Secundum atrial septal d... OMIM:615802
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femora... OMIM:619598
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Pectus carinatum, Downturned co... ORPHA:1327
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Carious teeth, Cerebral calcification, Cryptorchidism... ORPHA:377
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Anteriorly placed anus, Intrauterine growth retardation, Micrognathia, Microce... ORPHA:1352
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Sho... OMIM:241800
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Prominent nasal tip, Atri... OMIM:618870
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Cryptorchidism, Micropenis, Short nos... OMIM:616331
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Postnatal growth retardation, Micrognathia, Cryptorchidism... OMIM:210600
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Wide nasal bridge, Broad nasal tip, Clinodactyly, Intrauterine growth retardation, Microcephaly, ... ORPHA:73273
C Syndrome
Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Cry... OMIM:211750
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Depressed nasal bridge, Micromelia, Long philtrum, Thoracic hypop... OMIM:617895
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... OMIM:258315
Cranioectodermal Dysplasia 1
Clinodactyly, Anodontia, Bicuspid aortic valve, Broad distal phalanges of all fingers, Ectodermal... OMIM:218330
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Bicuspid aortic valve, Short nose, Br... OMIM:618529
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Generalize... ORPHA:1423
Juberg-Hayward Syndrome
Severe short stature, Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly plac... ORPHA:2319
Intellectual Developmental Disorder, Autosomal Recessive 72
Wide nasal base, Broad nasal tip, Secundum atrial septal defect, Long philtrum, Prominent nose, W... OMIM:618665
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Cryptorchidism, Agenesis of corpus callosum, Ventr... OMIM:312870
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, Narrow mouth, ... OMIM:617201
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Cryptorchidism, Talip... ORPHA:1865
Rubinstein-Taybi Syndrome 1
Broad thumb, Postnatal growth retardation, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cr... OMIM:180849
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... ORPHA:163649
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Clinodactyly, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Short neck, Hypospadias,... OMIM:217980
Moebius Syndrome
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Short ne... OMIM:157900
Microcephaly-Micromelia Syndrome
Short tibia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Narrow mouth, Humeroradial ... OMIM:251230
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar... ORPHA:79345
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Short ne... ORPHA:457395
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Pierpont Syndrome
Cryptorchidism, Short neck, Everted lower lip vermilion, Short foot, Short nose, Wide nose, Broad... OMIM:602342
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Carious teeth, Hypoplasia of the corpus callosum, Flat acetabular roof, Con... OMIM:617102
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Cryptorchidism, Prenatal death, ... OMIM:618393
W Syndrome
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Radial bowing, Clinodactyly,... ORPHA:2804
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Cutis marmorata,... OMIM:620072
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Secundum atrial septal defect, Cardiomyopathy, Narrow mouth, Patent foramen ov... OMIM:616866
Branchiooculofacial Syndrome
Premature graying of hair, Postnatal growth retardation, Micrognathia, Cryptorchidism, Short neck... OMIM:113620
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Occipital Horn Syndrome
Genu valgum, High palate, Pectus carinatum, Broad clavicles, Limited elbow extension, Limited kne... OMIM:304150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Short femoral neck, Joint hypermobility, Narrow vertebral interpedicula... OMIM:618395
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Postnatal growth retardation, Cutis marmorata, Micrognathia, Cryptorc... OMIM:300882
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Long philtrum, Intrauterine growth retardation, Cryptorchidism, Death... OMIM:608104
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Cubitus valgus, High palate, Short foot,... OMIM:300577
Fetal Trimethadione Syndrome
Depressed nasal bridge, Tetralogy of Fallot, Intrauterine growth retardation, Micrognathia, Bilat... ORPHA:1913
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic patella, Cryptorchidism, Arachnodactyly,... OMIM:265000
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Sacral dimple, Micrognathia, Prominent ... OMIM:613544
Cerebrofaciothoracic Dysplasia
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Narrow chest, Cleft upper lip, Short nos... ORPHA:1394
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Micrognathia, Agenesis of corpus callosum, Ventricular septal defect,... OMIM:236680
Pancreatic And Cerebellar Agenesis
Pectus carinatum, Secundum atrial septal defect, Cerebellar agenesis, Apnea, Overlapping fingers,... OMIM:609069
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Dry skin, Lumbar scoliosis, Cerebral white matter atrophy, Short neck, Abnormal bone ossification... ORPHA:99646
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Short toe, Short nose, Genu valgum, Narrow mouth, Li... OMIM:614078
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl... ORPHA:1937
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Natal tooth, Clinodactyly, Dry skin, Prominent scalp veins, Micrognathia, Narrow mouth... OMIM:264090
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid's bow, Ventricular septa... OMIM:618506
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Pectus carinatum, Decreased motor nerve conduction velocity, Postnatal growth reta... OMIM:615419
Aicardi Syndrome
Small hand, Prominence of the premaxilla, Precocious puberty, Optic disc coloboma, Polymicrogyria... ORPHA:50
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Overlapping toe, Overlapping fingers, Hypoplasia of the corpus callosum, Atrial septal defect, Hi... OMIM:619383
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Clubbing of toes, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Cyanosis,... ORPHA:3304
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... OMIM:217085
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Hypoplasia of t... OMIM:216340
Mietens-Weber Syndrome
Elbow flexion contracture, Narrow nose, Severe postnatal growth retardation, Dislocated radial he... OMIM:249600
Becker Nevus Syndrome
Pectus carinatum, Micromelia, Abnormal tibia morphology, Abnormal scrotum morphology, Supernumera... ORPHA:64755
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Narrow chest, Scoliosis, Coarse metaphyseal trabecu... ORPHA:2635
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Mesomelia, Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finge... ORPHA:2631
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Ventricular septal defect, Atrial septal defect, High palate, Short nose, Bulbous n... OMIM:617061
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cutis marmorata, Radioulnar synostosis, Vertebral clefting, Short n... OMIM:614701
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Craniofacial hyperostosis, Optic atrophy, Mandibular prognathia, Craniofacial ... OMIM:122860
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the rad... ORPHA:246
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Dry skin, Lower limb undergrowth, Microcephaly, Orofacial cleft, Convex nasal ridge, Craniosynost... OMIM:218650
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Broad thumb, Overlapping toe, Cryptorchidism, Hypoplasia of the corpus callosum, Ventricular sept... OMIM:617452
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal morpho... ORPHA:2141
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Short finger, Death in childhood, Microcephaly, Acrocyanosis, Tapered finger OMIM:302000
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Narrow mou... ORPHA:1495
Mosaic Trisomy 14
Wide nasal bridge, Hypospadias, Narrow chest, Camptodactyly of finger, Anteverted nares, Microgna... ORPHA:1703
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Secondary microcephaly, Postnatal growth retardation, Micrognathia... OMIM:179613
Weiss-Kruszka Syndrome
Abnormal heart morphology, Cryptorchidism, Exaggerated cupid's bow, Single transverse palmar crea... ORPHA:502430
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short... OMIM:600121
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Pectus carinatum, Secundum atrial septal defect, Arachnodactyly, Transposition ... OMIM:619910
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal de... OMIM:620663
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Abnormal enchondral ossificat... ORPHA:93298
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Pectus carinatum, Cleft lip, Short 1st metaca... OMIM:620568
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening, Kyphoscoliosis, Short lower limbs, Abno... ORPHA:96190
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Situs i... OMIM:613686
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Clinodactyly, Widely spaced teeth, Respiratory distress, Micrognathia, Hypoplasia of... OMIM:300934
Loeys-Dietz Syndrome 5
Overhanging nasal tip, Cleft soft palate, Reduced subcutaneous adipose tissue, Ventricular septal... OMIM:615582
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Dispr... OMIM:156550
8P23.1 Microdeletion Syndrome
Broad thumb, Micrognathia, Cryptorchidism, Short neck, High palate, Hypospadias, Biparietal narro... ORPHA:251071
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ky... OMIM:277300
2Q32Q33 Microdeletion Syndrome
Broad thumb, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, High palate, Decrea... ORPHA:251019
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Short tho... ORPHA:1801
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Abnormal enchondral ossification, Long philtrum, Micromelia, ... ORPHA:93299
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, R... OMIM:201250
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Ventri... OMIM:154400
Rhizomelic Syndrome, Urbach Type
Limitation of joint mobility, Micrognathia, Short neck, Abnormality of the humerus, High palate, ... ORPHA:3098
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Aplasia/Hypoplasia of t... ORPHA:776
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Narrow mouth, Cryptorchidism... ORPHA:251028
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Abnormal heart m... OMIM:184705
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Craniodiaphyseal Dysplasia
Wide nasal bridge, Craniofacial hyperostosis, Optic atrophy, Depressed nasal bridge, Macrocephaly... ORPHA:1513
Mietens Syndrome
Severe short stature, Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the... ORPHA:2557
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Cleft upper lip, Kyphoscoliosis, Femoral retroversion, Cleft palate OMIM:607371
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Cerebral calcification, Micrognathia, High, narrow palate, Coarse metaphys... ORPHA:2780
Halperin-Birk Syndrome
Optic atrophy, Intrauterine growth retardation, Micrognathia, Death in childhood, Agenesis of cor... OMIM:618651
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Be... ORPHA:56304
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Pierpont Syndrome
Excessive wrinkling of palmar skin, Cryptorchidism, Short neck, Everted lower lip vermilion, Prom... ORPHA:487825
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Cutis marmorata, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Atrial... OMIM:617602
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Mesomelia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micro... OMIM:602418
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Atrial septal defect, Long nose, Hypospadias, Pierre-Robin sequence... OMIM:619184
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Microretrognathia, Respiratory distress, Intrauterine growth retardation, Cere... ORPHA:89844
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Long philtrum, Ectrodactyly, Radial club hand, Abnormal dental morphology, Abnormality of the wri... ORPHA:2878
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... ORPHA:1427
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Precocious puberty, Anteverted na... OMIM:619356
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorc... ORPHA:2701
ERI1-related disease
Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Finger joint hypermobility... OMIM:608739
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Long philtrum, Intestinal malrotation, Abnormal heart morphology,... ORPHA:401935
Tetrasomy 5P
Postnatal growth retardation, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Sho... ORPHA:3309
Diaphanospondylodysostosis
Micrognathia, Bell-shaped thorax, Decreased skull ossification, Talipes equinovarus, Short neck, ... OMIM:608022
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ... OMIM:616809
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Micrognathia, Bicuspid aortic valve, Short neck, Atrial septal defe... OMIM:612474
Ulna Hypoplasia-Intellectual Disability Syndrome
Severe short stature, Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow disloc... ORPHA:2249
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Postnatal growth retardation, Genu valgum, Micrognathia, Bic... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Postnatal growth retardation, Genu valgum, Micrognathia, Bic... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Postnatal growth retardation, Genu valgum, Micrognathia, Bic... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Postnatal growth retardation, Genu valgum, Micrognathia, Bic... ORPHA:881
Aicardi Syndrome
Postnatal growth retardation, Prominence of the premaxilla, Precocious puberty, Cerebellar vermis... OMIM:304050
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Broad clavicles, Cerebral hypoplasia, Recurrent upper respiratory tract infections, Delayed erupt... ORPHA:508542
Cardioacrofacial Dysplasia 2
Common atrium, Conical tooth, Postaxial foot polydactyly, Narrow chest, Atrioventricular canal de... OMIM:619143
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Postnatal growth retardation, Overlapping toe, Contracture of the distal interphalange... ORPHA:83617
Warburg Micro Syndrome 1
Wide nasal bridge, Cerebellar vermis hypoplasia, Optic atrophy, Cerebral atrophy, Anteverted nare... OMIM:600118
Arthrogryposis, Distal, Type 3
Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Talipes equinovarus, ... OMIM:114300
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Respiratory distress, Abnormal motor nerve conduction velocity, Talipes ... OMIM:614399
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Clitoral hypertrophy, Elbow dislocation, Cu... OMIM:224690
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
Insulin-Like Growth Factor I, Resistance To
Small hand, Clinodactyly, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Hypopl... OMIM:270450
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tooth agenesis, Tetralogy of Fallot, Joint stiffness, Abnormal hip bon... ORPHA:1166
Ulnar-Mammary Syndrome
Small scrotum, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Absent radius, Ana... OMIM:181450
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Bilateral cleft palate, Radioulnar synos... OMIM:614900
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... ORPHA:2919
Cornelia De Lange Syndrome 2
Small hand, Downturned corners of mouth, Clinodactyly, Hypertrophic cardiomyopathy, Postnatal gro... OMIM:300590
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Optic atrophy, Hypoplasia of the maxilla, Clinodactyly, Cerebral ... OMIM:614261
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Intrauterine growth retardation, Neonatal death, Bowin... OMIM:619751
Kbg Syndrome
Ulnar deviation of the 2nd finger, Cryptorchidism, Short neck, Widely-spaced maxillary central in... OMIM:148050
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Microcephaly, Orofacial cleft,... ORPHA:3434
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of metacarpals, Platyspondyly, ... ORPHA:163966
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Short neck, Short no... ORPHA:391408
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Bifid uvula, Retrognathia, Secondary microcephaly, Hypertrophic cardiomyopathy, In... OMIM:612938
Distal Deletion 1Q
Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcephaly, Sm... ORPHA:36367
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Pectus carinatum, Wide nasal bridge, Broad thumb, Secundum atrial septal defect,... OMIM:612541
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr... OMIM:614669
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Disproportionate short stature, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Choanal atresia, Preaxial hand polydactyly, Respiratory distress, Anteverted nare... OMIM:610536
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Whistling appearance, Downturned corners of mouth, Abnormality of the nose, Abnormal shoulder mor... ORPHA:1150
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Optic... OMIM:169550
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Cleft soft palate, Genu valgum, Micrognathia, Disproportionate short-t... ORPHA:93316
Ruvalcaba Syndrome
Small hand, Synostosis of carpal bones, Narrow mouth, Cryptorchidism, Short metacarpal, Short nos... ORPHA:3121
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Postnatal growth re... OMIM:268300
Nicolaides-Baraitser Syndrome
Cryptorchidism, Excessive wrinkled skin, Abnormal metacarpal morphology, Everted lower lip vermil... ORPHA:3051
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Short nose, Intrauterine growth retardation, Micrognathia, Malar f... ORPHA:2145
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Small hand, Optic atrophy, Depressed nasal bridge... OMIM:608799
Peho-Like Syndrome
Optic atrophy, Retrognathia, Polymicrogyria, Open mouth, Hypoplasia of the corpus callosum, Progr... OMIM:617507
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Pectus carinatum, Depressed nasal bridge, Toe syndactyly, Long philtrum, Cerebral atrophy, Anteve... ORPHA:171839
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Atrial septal de... OMIM:618316
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Dysplasia of the femoral h... ORPHA:536467
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Retrognathia, Preaxial polydactyly, Intrauterine growth retardation, Over... OMIM:618142
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Tachypnea, Secundum atrial septal defect, Neonatal death OMIM:620203
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Cardiomyopathy, Hypogonadism, Intrauterine growth retardation, Micrognathia, De... OMIM:608540
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Short nose, Ant... ORPHA:93329
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1350
Aica-Ribosiduria Due To Atic Deficiency
Optic atrophy, Clitoral hypertrophy, Secundum atrial septal defect, Anteverted nares, Prominent n... OMIM:608688
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Megalencephaly, Thoracic hyp... OMIM:100800
Myhre Syndrome
Craniofacial hyperostosis, Narrow mouth, Cryptorchidism, Hypospadias, Mandibular prognathia, Epis... ORPHA:2588
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation... OMIM:615524
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Cryptorchidism, S... OMIM:305400
Stuve-Wiedemann Syndrome 1
Thin ribs, Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal ra... OMIM:601559
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal form of the vertebral bodies, Abn... ORPHA:2180
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Depressed nasal bridge, Broad thumb, Widely spaced teeth, Atriovent... OMIM:617364
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Toe syndactyly, Broad thumb, Aplasia/Hypoplasia of the corpus callosum, Overlapping toe, Cryptorc... ORPHA:505237
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Short 5th finger, Prominent fingertip pads, Long philtrum, Bilateral cryptor... ORPHA:485405
Achondrogenesis
Severe short stature, Narrow chest, Abnormal enchondral ossification, Long philtrum, Micromelia, ... ORPHA:932
Ruvalcaba Syndrome
Small hand, Narrow chest, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphosis, Narro... OMIM:180870
Charge Syndrome
Postnatal growth retardation, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding... OMIM:214800
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Intra... OMIM:220210
Autism Spectrum Disorder Due To Auts2 Deficiency
Wide nasal bridge, Joint contracture of the hand, Congenital contracture, Retrognathia, Abnormal ... ORPHA:352490
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, Cerebral white matter atro... ORPHA:435638
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular septa... OMIM:607872
Fetal Alcohol Syndrome
Intrauterine growth retardation, Joint stiffness, Micrognathia, Anteverted nares, Microdontia, Th... ORPHA:1915
Even-Plus Syndrome
Severe short stature, Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Dysplasia of ... OMIM:616854
Zechi-Ceide Syndrome
Wide nasal bridge, Cerebellar vermis hypoplasia, Short distal phalanx of finger, Cleft lip, Downt... ORPHA:217017
Diamond-Blackfan Anemia 1
Micrognathia, Ventricular septal defect, Short neck, Atrial septal defect, Small thenar eminence,... OMIM:105650
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, Dysplastic corpus c... OMIM:620135
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, Cryptorchidism, Joint hypermobility, Short philtru... OMIM:617991
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, Advanced ossifica... OMIM:618363
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Scoliosis, Retrognathia, Cerebral atrophy, Micrognathia, Facial diplegia, Cryptor... OMIM:611890
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Death in infancy, ... ORPHA:93946
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Abnormal heart morpho... ORPHA:1143
Diaphanospondylodysostosis
Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib... ORPHA:66637
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Hydrometrocolpos, Polydac... ORPHA:672
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Underdeveloped nasal alae, Intrauterine grow... ORPHA:2516
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Open mouth, Cryptorchidism, Ventricular septal defect, Short neck, High palate, Sho... ORPHA:369891
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... ORPHA:90653
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Submucous cleft har... ORPHA:2712
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Secondary microcephaly,... OMIM:620073
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Arthrogryposis multiplex congenita, Short neck, Bulbous nose, Cerebellar hypoplasia, Thin upper l... OMIM:618622
Feingold Syndrome 2
Short thumb, Secondary microcephaly, Postnatal growth retardation, 3-4 toe syndactyly, Short midd... OMIM:614326
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Cryptorchidism, Prominent nasal tip, Broad phalanx, B... ORPHA:439822
Shox-Related Short Stature
Genu valgum, Micrognathia, Tibial bowing, Ulnar radial head dislocation, Lower limb undergrowth, ... ORPHA:314795
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal vertebral morphology, Prominent scalp veins, Subluxation of the s... ORPHA:536471
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o... OMIM:255800
Renpenning Syndrome
Narrow mouth, Sprengel anomaly, Anal atresia, Hypospadias, High, narrow palate, Decreased testicu... ORPHA:3242
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization,... OMIM:618961
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Increased bone mineral density, Ankylosis, Short humerus, Lateral femoral b... OMIM:239000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Disproportionate short-limb short stature, Micromelia, Intrauterine growt... ORPHA:2772
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Abnormal meta... ORPHA:582
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Jejunal atresia, Ventricular septal defect, Microcephaly, Brachydact... ORPHA:391646
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Cavum septum pellucidum, Polymicrogyria, D... OMIM:620609
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of ... ORPHA:2759
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Optic atrophy, Dental malocclusion, Contractures of the large joints, Respiratory dis... ORPHA:329178
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Prominent scalp veins, Narrow mouth, Cryptorchidism, Reduced subcutaneous adipose ti... ORPHA:3455
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Postnatal growth retardation, Narrow mouth, Cryptorch... OMIM:193700
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Spondyloepiphyseal Dysplasia Congenita
Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Barrel... OMIM:183900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Arachnodactyly, Cerebellar hemisphere hypoplasia, Atrial septa... ORPHA:500150
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Postnatal growth retardation, Overlapping toe, Cutaneous finger syndactyly, Dry sk... OMIM:613026
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micr... OMIM:614524
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Aplas... OMIM:200990
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnor... ORPHA:1842
Stickler Syndrome, Type I
Micrognathia, Mitral valve prolapse, Arachnodactyly, Beaking of vertebral bodies, Pierre-Robin se... OMIM:108300
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Respiratory distress, Intr... OMIM:619793
Filippi Syndrome
Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Bilateral single transverse palm... ORPHA:3255
Burn-Mckeown Syndrome
Bifid uvula, Choanal atresia, Bilateral choanal atresia, Cleft upper lip, Bilateral choanal atres... OMIM:608572
Pseudo-Torch Syndrome 2
Thin ribs, Secundum atrial septal defect, Polymicrogyria, Cerebral calcification, Petechiae, Cere... OMIM:617397
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Pectus carinatum, Hypoplasia of the maxilla, Broad thumb, Depressed nasal brid... ORPHA:261295
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Postnatal... ORPHA:959
Coffin-Siris Syndrome 6
High, narrow palate, Depressed nasal bridge, Broad nasal tip, Clinodactyly, Retrognathia, Microgn... OMIM:617808
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Micrognathia, Microcephaly, Delayed puberty, High palate, Scoliosis, Kyphosis, Sho... ORPHA:2598
Non-Distal Duplication 13Q
Abnormality of the dentition, Narrow chest, Long philtrum, Micrognathia, Cryptorchidism, Arachnod... ORPHA:1702
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Clinodactyly, Anteriorly placed anus, Anteverted nares, Agenesis o... OMIM:619980
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Cryptorchidism, Tal... OMIM:225500
Microphthalmia, Syndromic 3
Optic nerve aplasia, Postnatal growth retardation, Vertebral hypoplasia, Butterfly vertebrae, Cry... OMIM:206900
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, La... ORPHA:363705
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, S... OMIM:616894
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Micromelia, Flared metaphysi... OMIM:215045
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Dental crowding,... OMIM:145420