Gene Summary

Name:
axin 2
Synonyms:
Axil,  Conductin

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Axin2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal facial morphology Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
protruding tongue Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal head shape Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal embryo size Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
anophthalmia Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal eyelid fusion Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
microphthalmia Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
polydactyly Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal skin coloration Axin2tm1b(KOMP)Wtsi HET Early adult 1.99×10-06
abnormal body wall morphology Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
unresponsive to tactile stimuli Axin2tm1b(KOMP)Wtsi HET E18.5 0.00
unresponsive to tactile stimuli Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal embryo development Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal limb morphology Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00

Download data as:  TSV  XLS

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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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Mesenteric lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 0.0% (0 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cecum N/A heterozygote Not available
Eye N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 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%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Wholemount

34 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

MicroCT E18.5

Embryo reconstruction

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Immunophenotyping

Panel A FCS file(s)

4 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

Human diseases caused by Axin2 mutations

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

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

The table below shows human diseases associated to Axin2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Axin2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Brachycephaly, Macrocephaly, Thickened calvaria ORPHA:178377
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... OMIM:206920
Summitt Syndrome
Oxycephaly, Craniosynostosis OMIM:272350
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... OMIM:311895
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Chorioretinal coloboma, Microphthalmia, ... OMIM:611638
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Brachycep... ORPHA:66625
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Craniosynostosis 6
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Parietal foramina, ... OMIM:616602
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate,... OMIM:619452
Acrocallosal Syndrome
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinodactyly of the 5th finge... OMIM:200990
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Sagittal craniosyn... OMIM:615314
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Symphalangism, Distal
Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis OMIM:185700
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, Sagittal craniosynostosis OMIM:185900
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Microcephaly OMIM:218650
Craniosynostosis, Adelaide Type
Craniosynostosis, Carpal bone malsegmentation OMIM:600593
Down Syndrome
Epicanthus, Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protru... ORPHA:870
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Congenital Disorder Of Glycosylation, Type Iiy
Hip subluxation, Microcephaly, Brachycephaly, Reduced bone mineral density OMIM:620200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Flat occiput, Brachycephaly, Microcephaly ORPHA:46
Lowry-Maclean Syndrome
Craniosynostosis, Microcephaly OMIM:600252
9q subtelomeric deletion syndrome
Synophrys, Midface retrusion, Protruding tongue DECIPHER:52
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Orbital cyst, Cleft palate, Eyel... OMIM:164180
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Brachycephaly, Upslanted palpebral fissure, High palate, Narrow mouth, Microphthalmia ORPHA:2528
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Microcephaly, Brachycephaly, Lambdoidal... OMIM:618736
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones ORPHA:2787
Ring Chromosome 22 Syndrome
Epicanthus, Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border, Dolichoce... ORPHA:1446
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Summitt Syndrome
Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, M... ORPHA:3210
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous c... OMIM:618106
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly,... OMIM:613885
Hartsfield Syndrome
Encephalocele, Ptosis, Telecanthus, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft pa... ORPHA:2117
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Skull a... OMIM:612938
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Epicanthus, Single transverse palmar crease, Tapered finger, Protruding tongue, Synophrys, Broad ... OMIM:617804
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Multiple suture cran... ORPHA:3369
Kleefstra Syndrome 1
Natal tooth, Single transverse palmar crease, Persistence of primary teeth, Protruding tongue, Sy... OMIM:610253
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Craniosynostosis, Microcephaly OMIM:201550
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Craniosynostosis 2
Frontal bossing, Turricephaly, Wormian bones, Craniosynostosis, Unicoronal synostosis, Brachyceph... OMIM:604757
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Brachycephaly, Craniosynostosis OMIM:614416
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachycephaly, Midface retrusion ORPHA:35099
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Postaxial polydactyly OMIM:613094
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Joint hypermobility, Microcephaly OMIM:618906
Pierpont Syndrome
Brachycephaly, Widely spaced teeth, Short palm, Prominent fingertip pads, Short toe, Deep palmar ... OMIM:602342
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Orbital cyst, Coloboma OMIM:251505
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... OMIM:300963
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Temtamy Syndrome
Brachydactyly, Telecanthus, Short toe, Thick lower lip vermilion, Chorioretinal coloboma, Dolicho... ORPHA:1777
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis, Trigonocephaly, Scaphocephaly, Macrocephaly, Abnormal calvaria... OMIM:175700
Hypophosphatasia, Childhood
Frontal bossing, Craniosynostosis, Dolichocephaly OMIM:241510
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Whistling Face Syndrome, Recessive Form
Ptosis, Inguinal hernia, Epicanthus, Telecanthus, Shoulder flexion contracture, Narrow mouth, Whi... OMIM:277720
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Iris coloboma, Encephaloce... OMIM:605627
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Abnormal spaced incisors, Synophrys, Everted lower lip vermilion, Thic... ORPHA:411986
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Proximal placement of thumb, Coxa valga, Diastema, Protruding tongue, Brachycephaly,... OMIM:212066
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Cleft palate, Talipes equinovarus, Microphthalmia, Intrauterine growth retard... OMIM:616570
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Premature posterior fontanelle closure, Small anterior fontanelle, Lam... OMIM:314320
Craniotelencephalic Dysplasia
Frontal bossing, Craniosynostosis, Microcephaly ORPHA:1528
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Pierpont Syndrome
Thin upper lip vermilion, Telecanthus, Short toe, Brachycephaly, Broad philtrum, Narrow palpebral... ORPHA:487825
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility OMIM:616721
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology, Median cleft palate ORPHA:2432
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Antecubital pterygium, Anky... OMIM:619339
Trisomy 13
Anophthalmia, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, ... ORPHA:3378
Mmep Syndrome
Median cleft lip, Orofacial cleft, Split foot, Triphalangeal thumb, Microphthalmia ORPHA:3434
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Macrocephaly, Craniosynostosis, Dolichocephaly ORPHA:1516
Raine Syndrome
Natal tooth, Bowing of the long bones, Micromelia, Protruding tongue, Highly arched eyebrow, Long... OMIM:259775
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Trigonocephaly 1
Metopic synostosis, Trigonocephaly, Craniosynostosis, Microcephaly OMIM:190440
Grant Syndrome
Joint dislocation, Frontal bossing, Large fontanelles, Brachycephaly, Decreased skull ossificatio... ORPHA:2097
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth, Horizontal eyebr... OMIM:618797
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Tapered finger, Protruding tongue, Wide mouth, Upslanted palpebral fi... OMIM:618580
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Joubert Syndrome 1
Epicanthus, Highly arched eyebrow, Protruding tongue, Postaxial hand polydactyly, Optic disc colo... OMIM:213300
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Potocki-Shaffer Syndrome
Turricephaly, 2-5 finger cutaneous syndactyly, Epicanthus, Single transverse palmar crease, Telec... OMIM:601224
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f... OMIM:601349
Craniosynostosis 4
Sagittal craniosynostosis, Macrocephaly, Pansynostosis, Lambdoidal craniosynostosis, Metopic syno... OMIM:600775
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate OMIM:615524
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia OMIM:600251
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly ORPHA:2898
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Ankyloblepharon OMIM:611038
Microphthalmia, Isolated 8
Entropion, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthal... OMIM:615113
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa... ORPHA:139471
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
X-Linked Dystonia-Parkinsonism
Resting tremor, Protruding tongue, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, ... ORPHA:53351
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... ORPHA:1106
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Frontonasal Dysplasia 1
Ptosis, Epicanthus, Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, P... OMIM:136760
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Epicanthus, Coxa valga, Tapered finger, Diastema, Protruding tongue... OMIM:301040
Carpenter Syndrome
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... ORPHA:65759
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal pl... ORPHA:93267
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly OMIM:610023
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Eosinophilia, Craniosynostosis, Scaphocephaly, Hip dislocation, Joint contracture of... OMIM:618523
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Flat occiput, Highly arched eyebrow, Protruding tongue, Synophrys, Brachycephaly... ORPHA:96147
Non-Distal Duplication 10Q
Joint hyperflexibility, Frontal bossing, Brachycephaly, Microcephaly ORPHA:1695
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... OMIM:615297
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Inguinal hernia, Protruding tongue, Gingival overgrowth, Polydactyly, Um... ORPHA:93400
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis, Macrocephaly ORPHA:380
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Inguinal... OMIM:600325
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Prominent eyelashes, Gingival overgrowth, Upslanted palpebral fissure, Long pa... OMIM:619179
Cole-Carpenter Syndrome 2
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Lambdoidal ... OMIM:616294
Joubert Syndrome 10
Frontal bossing, Epicanthus, Postaxial polydactyly, Deep philtrum, Thick vermilion border, Downsl... OMIM:300804
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Inguinal hernia, Ptosis, Broad hallux, Single transverse palmar crease,... OMIM:617062
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Hydrolethalus
Anophthalmia, Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Anencephaly, G... ORPHA:2189
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Ptosis, Thick eyebrow, Proximal placement of thumb, Limited elbow movem... OMIM:300590
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Brachycephaly, Craniosynostosis ORPHA:314575
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hypermobi... OMIM:147060
Angelman Syndrome
Flat occiput, Protruding tongue, Brachycephaly, Limb tremor, Wide mouth, Macroglossia, Widely spa... OMIM:105830
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b... OMIM:601853
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, Long philtrum, ... OMIM:613792
Jackson-Weiss Syndrome
Coronal craniosynostosis, Calcaneonavicular fusion, Craniosynostosis, Midface retrusion OMIM:123150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
16P13.11 Microduplication Syndrome
Joint hyperflexibility, Craniosynostosis, Dolichocephaly ORPHA:261243
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Muenke Syndrome
Ptosis, Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, C... OMIM:602849
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Slender long ... ORPHA:561
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Orofacial cleft, Wide mouth, Colobo... OMIM:614583
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Synophrys, Brachyce... OMIM:615761
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Telecanthus, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft... OMIM:607597
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Flat occiput, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bo... OMIM:214100
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Epicanthus, Coxa valga, Slender finger, Abnormality of the elbow, Brachycephaly,... ORPHA:163649
Intellectual Developmental Disorder, Autosomal Dominant 26
Ptosis, Inguinal hernia, Epicanthus, Thick eyebrow, Decreased palmar creases, Highly arched eyebr... OMIM:615834
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Midface retru... OMIM:618577
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, ... ORPHA:1101
Trisomy 1Q
Omphalocele, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalm... ORPHA:261344
Cranioectodermal Dysplasia
Frontal bossing, Craniosynostosis, Osteoporosis, Prominent occiput, Joint hyperflexibility, Dolic... ORPHA:1515
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Carious teeth, S... OMIM:617102
Orofaciodigital Syndrome Iv
Epicanthus, Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, ... OMIM:258860
Cole-Carpenter Syndrome 1
Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co... OMIM:112240
Muenke Syndrome
Tarsal synostosis, Brachycephaly, Plagiocephaly, Macrocephaly, Carpal synostosis, Coronal cranios... ORPHA:53271
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Craniofrontonasal Dysplasia
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Microcephaly, Brachycephaly, Plagioce... ORPHA:1520
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Highly arched eyebrow, S... ORPHA:2712
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Highly arched eyebrow, B... ORPHA:404440
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Abnormality of thumb... ORPHA:1553
Meckel Syndrome, Type 2
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Clark-Baraitser Syndrome
Thin upper lip vermilion, Epicanthus, Sandal gap, Exaggerated cupid's bow, Brachycephaly, Downtur... OMIM:617752
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis, Macrocephaly OMIM:614732
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Catel-Manzke Syndrome
Camptodactyly of finger, Highly arched eyebrow, Metatarsus valgus, Radial deviation of the 2nd fi... ORPHA:1388
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Downslanted palpeb... OMIM:619981
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Turricephaly, Hypoplastic scapulae, Micromelia, Bowing of... OMIM:200600
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly, Macrocephaly OMIM:300699
Larsen-Like Syndrome
Joint laxity, Frontal bossing, Joint dislocation, Wide anterior fontanel, Brachycephaly, Macrocep... OMIM:608545
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Cat-Eye Syndrome
Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris colob... ORPHA:195
Icf Syndrome
Epicanthus, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia ORPHA:2268
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corner... ORPHA:435638
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Single transverse palmar crease, Deep philtrum, Synophrys, Short philtrum, Joint contracture of t... OMIM:620098
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arched eyebrow, Orofacial clef... OMIM:618804
Craniotelencephalic Dysplasia
Craniosynostosis OMIM:218670
Macrocephaly-Developmental Delay Syndrome
Frontal bossing, Scaphocephaly, Craniosynostosis, Macrocephaly ORPHA:397612
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Microcephaly, Multiple prenatal fractures, Platybasia, Decreased calvarial ossification, Bowing o... OMIM:259410
Ring Chromosome 10 Syndrome
Frontal bossing, Sandal gap, Aganglionic megacolon, Tapered finger, Thin vermilion border, Long p... ORPHA:1438
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Almond-shaped palpebral fissure, Gingival overgrowth, Opisthotonus, Long palpe... OMIM:620352
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Long eyelashes, Long philtrum... OMIM:615877
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, Arthrogryposis... OMIM:618265
Gómez-López-Hernández Syndrome
Turricephaly, Brachycephaly, Midface retrusion ORPHA:1532
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Frontal bossing, Prominent metopic ridge, Microcephaly, Brachycephaly, Genu valgum,... OMIM:619721
Corpus Callosum Agenesis-Neuronopathy Syndrome
Turricephaly, Craniosynostosis, Microcephaly ORPHA:1496
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:601370
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Moebius Syndrome
Syndactyly, Brachydactyly, Epicanthus, Abnormality of the dentition, Microphthalmia, Split hand, ... OMIM:157900
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Upslanted palpebral fissure, Thick vermilion border, Narrow mouth, Overlapping... OMIM:608779
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus her... ORPHA:2538
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Blepharophimosis, Non-midline cleft lip, Brachycephaly, Cleft palate,... ORPHA:1791
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Craniosynostosis, Microcephaly OMIM:619076
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Epicanthus, Polydactyly, Microphthalmia, Downslanted palpebral fissures, Smooth philtrum OMIM:602501
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Brachycephaly, Hypoplasia of the primary teeth, 4-5 finger syndactyly, Hypoplasi... OMIM:257850
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, Cleft palate, Tooth agenesis, High palate, Microphthalmia, Midface retrusion ORPHA:1135
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Epicanthus, Malabsorption, Protruding tongue OMIM:242860
Microphthalmia, Syndromic 13
Widely-spaced incisors, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis OMIM:300915
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Craniosynostosis, Hip dislocation, Copper beaten skull, Genu varum OMIM:619451
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Microphthal... OMIM:615665
Meckel Syndrome, Type 10
Frontal bossing, Occipital encephalocele, Ulnar deviation of the hand, Epicanthus, Postaxial poly... OMIM:614175
Potocki-Shaffer Syndrome
Parietal foramina, Decreased skull ossification, Brachycephaly ORPHA:52022
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Overlapping toe, Palpebral edema, Protruding tongue, Long upper lip, Deep p... ORPHA:99843
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Frontal bossing, Thin upper lip vermilion, Epicanthus, Single transverse palmar crease, Pierre-Ro... OMIM:613604
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Upslanted palpebral fissure, Widely spaced teeth, Long pa... OMIM:619694
2Q31.1 Microdeletion Syndrome
Abnormal tibia morphology, Deep philtrum, Synophrys, Downturned corners of mouth, Coloboma, Short... ORPHA:251014
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Upper eyelid coloboma, Anteriorly pla... ORPHA:2717
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Orofaciodigital Syndrome Viii
Syndactyly, Telecanthus, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Telecanthus, Conical tooth, Abnormality of the dentition, Brachyc... ORPHA:228390
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Brachycephaly, Craniosynostosis ORPHA:2145
Fontaine Progeroid Syndrome
High, narrow palate, Synophrys, Brachycephaly, Anteriorly placed anus, Oligodontia, Microdontia, ... OMIM:612289
Angelman Syndrome Due To A Point Mutation
Wide mouth, Flat occiput, Widely spaced teeth, Protruding tongue ORPHA:411511
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, ... OMIM:248450
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Large fontanelles, Brachycephaly, ... OMIM:603116
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Brachycephaly, Cleft palate, Upper eyelid coloboma, Microphthalmia OMIM:613456
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Flat occiput, Protruding tongue, Tremor, Wide mouth, Widely spaced teeth ORPHA:98794
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitar... OMIM:147250
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Craniosynostosis, Large fontanelles, Brachycephaly, Radioulnar synostosis ORPHA:171839
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Coloboma ORPHA:141333
Congenital Varicella Syndrome
Microphthalmia, Micromelia, Intrauterine growth retardation ORPHA:291
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Down Syndrome
Epicanthus, Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tongue... OMIM:190685
Camptodactyly Syndrome, Guadalajara Type 1
Synophrys, Brachycephaly, Downturned corners of mouth, High palate, Scapular winging, Spina bifid... ORPHA:1327
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Bilateral camptod... OMIM:619777
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Ptosis, Epicanthus, Brachyc... ORPHA:264200
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem... OMIM:605282
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Pr... ORPHA:284417
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Frontal bossing, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcane... ORPHA:163966
Temtamy Syndrome
Frontal bossing, Dental crowding, Highly arched eyebrow, Hip dislocation, Hypoplasia of teeth, Sh... OMIM:218340
Monosomy 18P
Ptosis, Epicanthus, Generalized dystonia, Carious teeth, Brachycephaly, Cleft palate, Downturned ... ORPHA:1598
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Telecanthus, Aplastic clavic... ORPHA:50945
Osteopathia Striata-Cranial Sclerosis Syndrome
Frontal bossing, Increased bone mineral density, Flat occiput, Large fontanelles, Brachycephaly, ... ORPHA:2780
Chondrodysplasia With Joint Dislocations, Gpapp Type
Capitate-hamate fusion, Radial head subluxation, Genu valgum, Knee dislocation, Patellar dislocat... OMIM:614078
Jackson-Weiss Syndrome
Frontal bossing, Turricephaly, Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe sy... ORPHA:1540
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Jo... ORPHA:83
Crouzon Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Midface retrusion ORPHA:207
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft... OMIM:620107
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Juvenile Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue ORPHA:93399
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Joubert Syndrome 15
Exencephaly OMIM:614464
Holoprosencephaly
Anophthalmia, Flat occiput, Deep philtrum, Synophrys, Chorioretinal coloboma, Iris coloboma, Ence... ORPHA:2162
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Inguinal hernia, Epicanthus, Thick eyebrow, Single transverse palmar cr... OMIM:618950
Hypophosphatasia
Large fontanelles, Recurrent fractures, Craniosynostosis ORPHA:436
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Fused teeth, High palate, Microdontia, Syndactyly, Flat aceta... OMIM:614091
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Wormian bones, Brachy... OMIM:613849
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Epicanthus, Abnormality of the hand, Bilateral microphthalmos, Brachycephaly, Plagioc... ORPHA:369891
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Epicanthus, Tented upper lip vermilion, Broad hallux, Single transverse palmar c... OMIM:614105
1P31P32 Microdeletion Syndrome
Frontal bossing, Craniosynostosis, Macrocephaly ORPHA:401986
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Joint hypermobility, Macrocephaly OMIM:619056
Fanconi Anemia, Complementation Group S
Epicanthus, Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Upslant... OMIM:617883
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Tapered finger... OMIM:309580
Angelman Syndrome
Flat occiput, Protruding tongue, Tremor, Wide mouth, Widely spaced teeth, Ptosis ORPHA:72
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Craniosynostosis, Microcephaly ORPHA:2163
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Cleft upper lip, Duplication of phal... OMIM:243310
Menkes Disease
Joint laxity, Microcephaly, Osteoporosis, Brachycephaly, Wormian bones OMIM:309400
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali... ORPHA:970
Degcags Syndrome
Synophrys, High palate, Syndactyly, Hiatus hernia, Abnormal eyelash morphology, Short thumb, Thic... OMIM:619488
Orofaciodigital Syndrome Xi
Cleft palate, Downslanted palpebral fissures, Postaxial polydactyly OMIM:612913
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Microcephaly, Large fontanelles, Brachycephaly, Abnormality of the wrist, Delayed c... ORPHA:2511
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Coloboma, Hip dy... OMIM:611961
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper li... OMIM:612530
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Wide anterior fontanel, Humeroradial synostosis, Flexion contracture, Brachyceph... OMIM:207410
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Telecanthus, Highly arch... ORPHA:313781
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... OMIM:601707
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Inguinal hernia, Telecanthus, Arachnodactyly, Dental crowding, Narrow mouth, Bra... OMIM:615539
Robinow-Sorauf Syndrome
Plagiocephaly, Pansynostosis, Craniosynostosis OMIM:180750
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of me... OMIM:300863
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Opisthotonus, Choreoathetosis, Protruding tongue OMIM:619580
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Macrocephaly OMIM:613174
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Coxa valga, Gingival overgrowth, Narrow mouth, Limb undergrowth OMIM:230600
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Microcephaly OMIM:616943
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Synophrys, Tracheoesophageal fistula, Cleft palate, Microphtha... ORPHA:261272
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98795
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... ORPHA:94066
Osteopetrosis, Autosomal Recessive 1
Frontal bossing, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, ... OMIM:259700
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Proboscis Lateralis
Anophthalmia, Abnormal morphology of bony orbit of skull, Orofacial cleft, Eyelid coloboma, High ... ORPHA:141099
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Deep philtrum, Cleft ... ORPHA:251038
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Arachnodactyly, Dental crowding, Narrow mouth, Brachycephaly, Cleft palate,... ORPHA:251019
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... OMIM:616300
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Orofaciodigital Syndrome V
Unilateral ptosis, Frontal bossing, Thin upper lip vermilion, Median cleft lip, Sandal gap, Agang... OMIM:174300
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Dolichocephaly, Wormian bones, Pathologic fracture, Abnormal cortic... ORPHA:166277
Cohen Syndrome
Abnormal eyelid morphology, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, ... ORPHA:193
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Preaxial polydactyly, Brachycephal... OMIM:618142
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Coloboma, Orofacial cleft ORPHA:324416
8Q12 Microduplication Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Narrow mouth, Brachycephaly, Short foot, Everted ... ORPHA:228399
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Frontal bossing, Microcephaly, Brachycephaly, Plagiocephaly OMIM:616801
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... OMIM:252100
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Epicanthus, Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, Thick lowe... OMIM:615828
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Frontoocular Syndrome
Trigonocephaly, Coronal craniosynostosis OMIM:605321
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Microcephaly ORPHA:163976
Pseudodiastrophic Dysplasia
Frontal bossing, Phalangeal dislocation, Elbow dislocation, Brachycephaly, Camptodactyly, Midface... OMIM:264180
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Brachycephaly, Plagiocephaly, Dolichocephaly ORPHA:272
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Brachycephaly, Increased susc... OMIM:610968
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Anal atresia, Narrow mouth ORPHA:3469
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Congenital bilateral ptosi... ORPHA:1692
Nanophthalmos
Microphthalmia ORPHA:35612
Achard Syndrome
Joint laxity, Broad skull, Brachycephaly OMIM:100700
Gillessen-Kaesbach-Nishimura Syndrome
Microcephaly, Wide anterior fontanel, Flexion contracture, Brachycephaly, Decreased skull ossific... OMIM:263210
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Cornelia De Lange Syndrome 5
Telecanthus, Toe syndactyly, Proximal placement of thumb, Highly arched eyebrow, Synophrys, Small... OMIM:300882
Acrofrontofacionasal Dysostosis
Ptosis, Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly,... ORPHA:1784
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... OMIM:123500
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Brachycephaly, ... OMIM:619148
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Chopra-Amiel-Gordon Syndrome
Microcephaly, Brachycephaly, Macrocephaly, Midface retrusion, Joint hypermobility OMIM:619504
Cockayne Syndrome Type 2
Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... ORPHA:90322
Fetal Alcohol Syndrome
Thin upper lip vermilion, Ptosis, Epicanthus, Telecanthus, Non-midline cleft lip, Cleft palate, B... ORPHA:1915
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Peroxisomal Acyl-Coa Oxidase Deficiency