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
protruding tongue Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Axin2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal head shape 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
microphthalmia Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
polydactyly Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal eyelid fusion Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal limb morphology Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
anophthalmia Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal body wall morphology Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal skin coloration Axin2tm1b(KOMP)Wtsi HET Early adult 1.65×10-06
abnormal embryo size Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal facial morphology Axin2tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal embryo development 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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.48% (12 of 345)
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 2.22% (1 of 45)
axial skeleton 1.92% (1 of 52)
brain 1.5% (6 of 400)
central nervous system ganglion 1.72% (1 of 58)
cranium 1.92% (1 of 52)
dorsal root ganglion 2.13% (1 of 47)
ear 0.26% (1 of 392)
embryo 0.0%
external ear 1.82% (1 of 55)
eye 0.26% (1 of 392)
femur pre-cartilage condensation 2.22% (1 of 45)
footplate 0.25% (1 of 397)
forearm 0.43% (1 of 232)
forebrain 0.0%
forelimb 0.25% (1 of 399)
fronto-nasal process 2.17% (1 of 46)
gut 2.17% (1 of 46)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
head mesenchyme 0.0%
heart 0.25% (1 of 403)
heart ventricle 0.0%
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
humerus pre-cartilage condensation 2.08% (1 of 48)
inner ear 0.0%
intestine 2.33% (1 of 43)
liver 0.0%
lower leg 0.39% (1 of 255)
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
mesonephros of female 2.22% (1 of 45)
mesonephros of male 2.17% (1 of 46)
metanephros 2.63% (1 of 38)
midbrain 0.25% (1 of 401)
nasal septum 1.89% (1 of 53)
nose 1.56% (1 of 64)
notochord 1.92% (1 of 52)
oral cavity 0.24% (1 of 415)
outflow tract 1.96% (1 of 51)
pancreas 0.0%
pericardium 0.0%
pharynx 2.08% (1 of 48)
radius-ulna pre cartilage condensation 2.04% (1 of 49)
rib pre-cartilage condensation 2.27% (1 of 44)
skeleton 0.0%
skin 0.25% (1 of 396)
spinal cord 1.79% (1 of 56)
stomach 2.44% (1 of 41)
tail 0.0%
tail somite group 0.25% (1 of 401)
thoracic vertebral cartilage condensation 0.0%
tongue 2.78% (1 of 36)
trachea 2.56% (1 of 39)
trunk mesenchyme 2.08% (1 of 48)
umbilical artery embryonic part 0.0%
umbilical vein embryonic part 1.96% (1 of 51)
upper arm 0.41% (1 of 245)
upper leg 0.0%
urinary system 0.0%
vibrissa 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

34 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

4 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
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Neurofibromatosis Type 6
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
Craniosynostosis 1
Craniosynostosis, Dolichocephaly, Oxycephaly, Turricephaly, Scaphocephaly OMIM:123100
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
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density, Brachycephaly, Macrocephaly, Thickened calvaria ORPHA:178377
Craniorhiny
Craniosynostosis, Turricephaly, Oxycephaly OMIM:123050
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Microphthalmia With Limb Anomalies
Fibular hypoplasia, Sandal gap, Cleft palate, Hip dislocation, High palate, Anophthalmia, Cleft u... OMIM:206920
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Short distal phalanx of fi... OMIM:311895
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Summitt Syndrome
Craniosynostosis, Oxycephaly OMIM:272350
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Oral cleft, Bilateral microphthalmos, Iris ... OMIM:611638
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Talipes e... OMIM:613885
Cerebrooculonasal Syndrome
High palate, Upslanted palpebral fissure, Solitary median maxillary central incisor, Anophthalmia... ORPHA:66625
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Anencephaly 2
Cleft of alveolar ridge of maxilla, Short palpebral fissure, Anophthalmia, Median cleft palate, A... OMIM:619452
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Down Syndrome
Narrow mouth, Brachydactyly, Upslanted palpebral fissure, Bilateral single transverse palmar crea... ORPHA:870
Symphalangism, Distal
Craniosynostosis, Distal foot symphalangism, Distal symphalangism of hands OMIM:185700
Craniosynostosis 3
Bicoronal synostosis, Sagittal craniosynostosis, Right unicoronal synostosis, Left unicoronal syn... OMIM:615314
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, Distal symphalangism of hands OMIM:185900
Craniosynostosis-Mental Retardation-Clefting Syndrome
Microcephaly, Craniosynostosis OMIM:218650
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Ritscher-Schinzel Syndrome 2
Short philtrum, Clinodactyly, Upslanted palpebral fissure, Protruding tongue, Broad hallux, Short... OMIM:300963
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Prominent metopic ridge, Brachycephaly OMIM:275595
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Craniosynostosis OMIM:608432
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, Hyperme... OMIM:145250
Adenylosuccinate Lyase Deficiency
Microcephaly, Prominent metopic ridge, Brachycephaly, Flat occiput ORPHA:46
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Glossoptosis, Abnorma... ORPHA:3104
Lowry-Maclean Syndrome
Microcephaly, Craniosynostosis OMIM:600252
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Osteoporosis, Microcephaly, Frontal bossing, Joint hyperflexibility ORPHA:2787
9q subtelomeric deletion syndrome
Protruding tongue, Synophrys, Midface retrusion DECIPHER:52
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Upslanted palpebral fissure, Microphthalmia, Brachycephaly, Epicanthus ORPHA:2528
Craniosynostosis, Adelaide Type
Carpal bone malsegmentation, Craniosynostosis OMIM:600593
Craniosynostosis 6
Plagiocephaly, Craniosynostosis, Microcephaly, Turricephaly, Delayed cranial suture closure, Brac... OMIM:616602
Oculocerebrocutaneous Syndrome
Orbital cyst, Anophthalmia, Congenital hip dislocation, Eyelid coloboma, Microphthalmia, Orbital ... OMIM:164180
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Rocker bottom foot, Microphthalmia, Talipes equinovarus, Cleft p... OMIM:616570
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Delayed closure of the anterior fontanelle, Microcephaly, Brachyceph... OMIM:618736
Craniosynostosis 2
Craniosynostosis, Frontal bossing, Turricephaly, Unicoronal synostosis, Brachycephaly, Bicoronal ... OMIM:604757
Down Syndrome
Upslanted palpebral fissure, Single transverse palmar crease, Shallow acetabular fossae, Short pa... OMIM:190685
2Q24 Microdeletion Syndrome
Short philtrum, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Ring Chromosome 22 Syndrome
Dolichocephaly, 2-3 toe syndactyly, Thick eyebrow, Midface retrusion, Epicanthus, Protruding tong... ORPHA:1446
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Craniosynostosis OMIM:218530
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Craniosynostosis, Dolichocephaly, Coronal craniosynostosis, Turricep... OMIM:614188
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate OMIM:248110
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachycephaly, Midface retrusion ORPHA:35099
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Sagittal craniosynostosis OMIM:218450
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Non-midline cleft lip, Iris coloboma, Eyelid coloboma, Spina b... ORPHA:1104
Kleefstra Syndrome 1
Brachydactyly, Upslanted palpebral fissure, Single transverse palmar crease, Everted lower lip ve... OMIM:610253
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Short palpebral fissure, Long philtrum, Elbow flexion contracture, Ble... OMIM:277720
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Intrauterine growth retardation, Non-midline cleft lip, Ptosis, ... ORPHA:2117
Raine Syndrome
Narrow mouth, High palate, Brachydactyly, Bowing of the long bones, Plagiocephaly, Enamel hypopla... OMIM:259775
Trigonocephaly 1
Microcephaly, Trigonocephaly, Craniosynostosis OMIM:190440
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Midface retrusion OMIM:612247
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Multiple suture craniosynostosis, Small anterior fontanelle,... ORPHA:3369
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate, Abnormality of calvarial morphology, Abnormality of the font... ORPHA:2432
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Adducted Thumbs Syndrome
Microcephaly, Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Oxycephaly, Ulnar deviation of the hand or of fingers... OMIM:201020
Congenital Disorder Of Glycosylation, Type Iia
Coxa valga, Long eyelashes, Macrodontia, Open mouth, Thick eyebrow, Everted lower lip vermilion, ... OMIM:212066
Cerebrooculonasal Syndrome
High palate, Solitary median maxillary central incisor, Craniosynostosis, Anophthalmia, U-Shaped ... OMIM:605627
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Macrocephaly, Camptodactyly of finger, Prominent metopic ridge, ... ORPHA:3210
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Downslanted palpebral fissures, Protruding tongue, Macroglossia OMIM:227250
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Postaxial polydactyly OMIM:613094
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Craniosynostosis, Brachycephaly OMIM:614416
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Orbital cyst OMIM:251505
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Pierpont Syndrome
Broad palm, Everted lower lip vermilion, Widely spaced teeth, Short toe, Narrow palpebral fissure... OMIM:602342
Temtamy Syndrome
Brachydactyly, Genu varum, Chorioretinal coloboma, Abnormal palate morphology, Dolichocephaly, Cl... ORPHA:1777
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Trigonocephaly, Scaphocephaly, Craniosynostosis OMIM:616901
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Skull asymmetry, Intrauterine growth retardation, Macroglossia, Umbil... OMIM:612938
Hypophosphatasia, Childhood
Frontal bossing, Craniosynostosis, Dolichocephaly OMIM:241510
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Prominent occiput, 2-5 finger cutaneous syndactyly, Popliteal pterygium,... OMIM:619339
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Bilateral cleft lip and palate, Microphthalmia OMIM:600776
Potocki-Shaffer Syndrome
Brachydactyly, Short philtrum, 2-5 finger cutaneous syndactyly, Wormian bones, Single transverse ... OMIM:601224
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Trisomy 13
Abnormality of pelvic girdle bone morphology, Anophthalmia, Long philtrum, Intrauterine growth re... ORPHA:3378
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Dolichocephaly, Metopic synostosis, Frontal bossing, Delayed cranial suture clo... OMIM:175700
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Mmep Syndrome
Triphalangeal thumb, Microphthalmia, Oral cleft, Split foot, Median cleft lip ORPHA:3434
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Small anterior fontanelle, Premature posterior fontanelle closure, S... OMIM:314320
Pierpont Syndrome
Telecanthus, Everted lower lip vermilion, Widely spaced teeth, Narrow palpebral fissure, Micropht... ORPHA:487825
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Craniosynostosis OMIM:225755
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Clinodactyly, Long philtrum, Ptosis, Macroglossia, Downslanted palpebral fissures, T... OMIM:141750
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Anal stenosis, Nasolacrimal duct obstruction, Eyelid coloboma, Omphalocele, Microph... OMIM:248450
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Plagiocephaly, Brachycephaly, Flat occiput ORPHA:2898
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum OMIM:618732
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia, Cleft palate OMIM:221950
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Short philtrum, Anophthalmia, Long eyelashes, Thick eyebrow, Everted lo... ORPHA:411986
Congenital Disorder Of Glycosylation, Type Iin
Craniosynostosis, Osteopenia, Joint hypermobility OMIM:616721
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly ORPHA:294975
Au-Kline Syndrome
High palate, Craniosynostosis, Hip dysplasia, Dolichocephaly, Sparse lateral eyebrow, Open mouth,... OMIM:616580
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Abnormality of epiphysis morphology, Rhizomelia, Omphal... ORPHA:93267
Orofaciodigital Syndrome Xviii
Accessory oral frenulum, Short philtrum, Brachydactyly, Upslanted palpebral fissure, Single trans... OMIM:617927
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Macrocephaly, Craniosynostosis, Dolichocephaly ORPHA:1516
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Microcephaly, Craniosynostosis, Joint hypermobility OMIM:618906
Developmental And Epileptic Encephalopathy 80
High palate, Upslanted palpebral fissure, Long philtrum, Triphalangeal thumb, Tapered finger, Ten... OMIM:618580
Familial Scaphocephaly Syndrome, Mcgillivray Type
High palate, Toe syndactyly, Upslanted palpebral fissure, Dolichocephaly, Open bite, Midface retr... ORPHA:168624
Non-Distal Trisomy 10Q
Microcephaly, Frontal bossing, Joint hyperflexibility, Brachycephaly ORPHA:1695
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Macrocephaly, Brachycephaly OMIM:300699
Grant Syndrome
Wormian bones, Joint dislocation, Decreased skull ossification, Frontal bossing, Large fontanelle... ORPHA:2097
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Wormian bones, Osteoporosis, Midface retrusion, Brachyturricephaly OMIM:613849
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Thick eyebrow, Brachycephaly, Flat occiput, Horizontal eyebrow, Protruding tongue, Gingival overg... OMIM:618797
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia... ORPHA:93323
Microphthalmia, Syndromic 8
Short palpebral fissure, Cleft upper lip, Widely-spaced maxillary central incisors, Microphthalmi... OMIM:601349
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Joubert Syndrome 1
Clinodactyly, Plagiocephaly, Chorioretinal coloboma, Occipital myelomeningocele, Postaxial foot p... OMIM:213300
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Craniosynostosis 4
Pansynostosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Sagittal craniosynostosis, ... OMIM:600775
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Microcephaly, Thin calvarium, Brachycephaly, Massively thickened long bone cortices OMIM:122900
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Median cleft palate, Cranium bifidum occultum, Pectoral muscle hypop... OMIM:136760
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Limb dystonia, Prot... ORPHA:53351
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, High palate, Intrauterine growth retardation, Oligodontia, Syndactyl... OMIM:600325
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Short philtrum, Intrauterine growth retardation, Tarsal osteovalgus, Midface retru... OMIM:614257
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia, Ankyloblepharon OMIM:611038
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Angelman Syndrome
Drooling, Widely spaced teeth, Macroglossia, Limb tremor, Brachycephaly, Flat occiput, Protruding... OMIM:105830
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Ptosis, Microphthalmia, Coloboma, Cleft palate OMIM:120433
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Platybasia, Wormian bones, Abnormal joint morphology, Moderate generalized osteoporosis OMIM:166230
Microphthalmia With Brain And Digit Anomalies
High palate, Chorioretinal coloboma, Anophthalmia, Finger syndactyly, Postaxial foot polydactyly,... ORPHA:139471
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Flattened epiphysis, Coxa valga, Long philtrum, Abnormality of crani... ORPHA:163649
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Microcephaly 26, Primary, Autosomal Dominant
Upslanted palpebral fissure, Prominent eyelashes, Protruding tongue, Long philtrum, Long palpebra... OMIM:619179
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Microphthalmia, Coloboma, Iris coloboma, Syndactyly OMIM:610023
Cornelia De Lange Syndrome 2
Brachydactyly, Clinodactyly, High palate, Intrauterine growth retardation, Long eyelashes, Thick ... OMIM:300590
Congenital Sialidosis Type 2
Protruding tongue, Hypoplasia of the fovea, Polydactyly, Inguinal hernia, Umbilical hernia, Gingi... ORPHA:93400
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th... ORPHA:1106
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Trigonocephaly, Macular hypoplasia, Upslanted palpebral fissure, Long philtrum, Blep... OMIM:613792
Kleefstra Syndrome Due To 9Q34 Microdeletion
Everted lower lip vermilion, Highly arched eyebrow, Macroglossia, Inguinal hernia, Midface retrus... ORPHA:96147
Joubert Syndrome 10
Deep philtrum, Downslanted palpebral fissures, Frontal bossing, Postaxial polydactyly, Epicanthus... OMIM:300804
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Po... ORPHA:65759
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Clinodactyly, Coxa valga, U-Shaped upper lip vermilion, Thick lower lip vermilion, Tapered finger... OMIM:301040
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Upslanted palpebral fissure, Single transverse palmar crease, Rocker bottom foot, Ep... OMIM:214100
Jackson-Weiss Syndrome
Calcaneonavicular fusion, Craniosynostosis, Midface retrusion OMIM:123150
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Clinodactyly of the 5th finger, Highly ar... ORPHA:1388
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Macrocephaly, Craniosynostosis ORPHA:380
Muenke Syndrome
Brachydactyly, High palate, Clinodactyly, Plagiocephaly, Thimble-shaped middle phalanges of hand,... OMIM:602849
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Telecanth... OMIM:129540
Craniotelencephalic Dysplasia
Microcephaly, Frontal bossing, Craniosynostosis ORPHA:1528
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Nanophthalmos 4
Microphthalmia OMIM:615972
Hydrolethalus
Bifid uvula, Anophthalmia, Unilateral cleft lip, Anencephaly, Submucous cleft hard palate, Microm... ORPHA:2189
Baraitser-Winter Syndrome 2
Long philtrum, Telecanthus, Ptosis, Highly arched eyebrow, Microphthalmia, Coloboma, Long palpebr... OMIM:614583
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Craniosynostosis, Arthrogryposis multiplex congenita OMIM:618265
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Craniosynostosis, Brachycephaly ORPHA:314575
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Small hand, Epicanthus, Broad long bones, Telecanthus, Narrow mouth, 2-4 toe cutan... OMIM:257850
Intellectual Developmental Disorder, Autosomal Dominant 23
Upslanted palpebral fissure, Long philtrum, Drooling, Sandal gap, Ptosis, Broad distal phalanx of... OMIM:615761
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Craniosynostosis, Osteopenia, Recurrent fractures, Joint hypermobility, Frontal bos... OMIM:147060
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Cleft upper lip, Brachyturricephal... OMIM:607597
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Craniosynostosis, Arthropathy, Scaphocephaly, Hip dislocation, Joint contracture of... OMIM:618523
Intellectual Developmental Disorder, Autosomal Dominant 57
Microcephaly, Craniosynostosis, Joint hypermobility OMIM:618050
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Dolichocephaly, Absent lacrimal punctum, Clinodactyly of the 5th finger... OMIM:167730
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Wormian bones, Osteopenia, Coronal craniosynostosis, Midface retrusi... OMIM:616294
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Cleft upper lip, Brachydactyl... OMIM:277170
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Dolichocephaly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Sh... OMIM:617102
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Inguinal hernia, Bilateral microphthalmos, Narrow palpebral fissure, Hip dislocation OMIM:608763
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Open mouth, Slender long bone, Protruding tongue, Gin... ORPHA:561
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Ptosis, Highly... ORPHA:2712
16P13.11 Microduplication Syndrome
Joint hyperflexibility, Craniosynostosis, Dolichocephaly ORPHA:261243
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly, Secondary microcephaly OMIM:309530
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Umbilical hernia, Anophthalmia, Long philtrum, Dolichocephaly, Abnormal size of th... ORPHA:1101
Trisomy 1Q
Narrow mouth, Toe syndactyly, Anophthalmia, Anal atresia, Arachnodactyly, Omphalocele, Preaxial h... ORPHA:261344
Muenke Syndrome
Plagiocephaly, Carpal synostosis, Coronal craniosynostosis, Brachycephaly, Tarsal synostosis, Mac... ORPHA:53271
Cranioectodermal Dysplasia
Prominent occiput, Craniosynostosis, Dolichocephaly, Osteoporosis, Frontal bossing, Joint hyperfl... ORPHA:1515
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Skull asymmetry, Craniosynostosis, Midface retrusion, Turricephaly, Brachycephaly,... OMIM:601853
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Upslanted palpebral fissure, Short palpebral fissure, Intrauterine growth retardati... OMIM:608779
Gómez-López-Hernández Syndrome
Turricephaly, Brachycephaly, Midface retrusion ORPHA:1532
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Foot polydactyly, Brachydacty... OMIM:258860
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Potocki-Shaffer Syndrome
Parietal foramina, Brachycephaly, Decreased skull ossification ORPHA:52022
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Sandestig-Stefanova Syndrome
High palate, Clinodactyly, Trigonocephaly, Intrauterine growth retardation, Prominent metopic rid... OMIM:618804
Curry-Jones Syndrome
Toe syndactyly, Craniosynostosis, Foot polydactyly, Finger syndactyly, Intestinal malrotation, Mi... ORPHA:1553
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Midface retrusion, Brachycephaly, Ulnar deviation of the w... OMIM:618577
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Epicanthus, Ptosis, Frontal bossing, Postaxial polydactyly,... OMIM:614175
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Coronal craniosynostosis, Midface retrusion, Frontal bossing, Or... OMIM:112240
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Decreased calvarial ossification, Multiple prenatal fractures, Microcephaly, Platy... OMIM:259410
Curry-Jones Syndrome
Craniosynostosis, Anal stenosis, Intestinal malrotation, Blepharophimosis, Microphthalmia, Colobo... OMIM:601707
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Syndactyly, Bilateral postaxial poly... OMIM:252100
Cousin Syndrome
Clinodactyly of the 5th finger, Hypoplastic iliac wing, Cleft palate, Hypoplastic pubic bone, 2-3... OMIM:260660
Ring Chromosome 10 Syndrome
Long philtrum, Intrauterine growth retardation, Sandal gap, Tapered finger, Aganglionic megacolon... ORPHA:1438
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Frontal bossing, Brachycephaly, Macrocephaly, Wide anterior font... OMIM:608545
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Upslanted palpebral fissure, Bifid uvula, Long philtrum, 2-3 toe syndactyly, Postaxial foot polyd... ORPHA:404440
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Icf Syndrome
Protruding tongue, Macroglossia, Malabsorption, Epicanthus, Umbilical hernia ORPHA:2268
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Short philtrum, Thick vermilion border, Decreased palmar creases, Upslanted palpebr... OMIM:615834
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Dystonia, Long philtrum, Tented upper lip vermilion, Microphthalmia, Frontal bossing... OMIM:614105
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Intellectual Developmental Disorder, Autosomal Dominant 29
High palate, Ptosis, Downslanted palpebral fissures, Dental crowding, Brachycephaly, Synophrys, T... OMIM:616078
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Coronal craniosynostosis OMIM:601370
Frontonasal Dysplasia 3
Absent eyebrow, Microphthalmia, Sparse eyelashes, Brachycephaly, Upper eyelid coloboma, Cleft palate OMIM:613456
Cat-Eye Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Anal atresia, Microphthalmia, Downslante... ORPHA:195
Craniofrontonasal Dysplasia
Plagiocephaly, Craniosynostosis, Microcephaly, Frontal bossing, Brachycephaly, Camptodactyly of f... ORPHA:1520
3P25.3 Microdeletion Syndrome
Acromesomelia, Tapered finger, High, narrow palate, Epicanthus, Thin upper lip vermilion, Broad t... ORPHA:435638
Frontofacionasal Dysplasia
Absent inner eyelashes, Non-midline cleft lip, Blepharophimosis, Aplasia/Hypoplasia of the eyebro... ORPHA:1791
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Long philtrum, Elbow flexion contracture, Second metatarsal posteriorly placed, Rocke... OMIM:214150
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Everted lower... ORPHA:251014
Fontaine Progeroid Syndrome
Long philtrum, Microdontia, Everted lower lip vermilion, High, narrow palate, Absent distal phala... OMIM:612289
Angelman Syndrome Due To A Point Mutation
Drooling, Widely spaced teeth, Flat occiput, Protruding tongue, Wide mouth ORPHA:411511
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Esophagitis, Abnormality of the humerus, Rectovaginal fistula, Anophthalmia, Phocome... ORPHA:2538
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Abnormal palate morphology, 2-... ORPHA:1540
Fanconi Anemia, Complementation Group S
Clinodactyly, Upslanted palpebral fissure, Long eyelashes, Blepharophimosis, Thick upper lip verm... OMIM:617883
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial foot polydactyly, Occipital encephalocele, A... OMIM:611561
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Drooling, Widely spaced teeth, Wide mouth, Flat occiput, Protruding tongue, Tremor ORPHA:98794
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Joint stiffness, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Myopathy, Congenital, Bailey-Bloch
Microcephaly, Flexion contracture, Brachycephaly, Midface retrusion OMIM:255995
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Highly arched eyebrow, Spina bifida, Hallux valgus, Sh... ORPHA:1327
Hereditary Sensory And Autonomic Neuropathy Type 2
Wormian bones, Abnormality of the ankles, Foot acroosteolysis, Abnormality of the knee, Osteolysi... ORPHA:970
Moebius Syndrome
Brachydactyly, High palate, Clinodactyly, Bifid uvula, Abnormality of pelvic girdle bone morpholo... OMIM:157900
Leukocyte Adhesion Deficiency Type Ii
Intrauterine growth retardation, Long eyelashes, Broad palm, Deep philtrum, Palpebral edema, Broa... ORPHA:99843
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, Frontal bossing, Turricephaly, Brachycephaly, Macrocephaly OMIM:613174
Bardet-Biedl Syndrome 7
Narrow mouth, Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Plagiocephaly, Short metacarpal, Microdontia, Dee... OMIM:605282
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Upslanted palpebral fissure, Intrauterine growth retardation, Coronal craniosynostosis, Conical t... ORPHA:228390
Chondrodysplasia With Joint Dislocations, Gpapp Type
Patellar dislocation, Genu valgum, Coronal craniosynostosis OMIM:614078
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Epicanthus, Protruding tongue, Malabsorption, Macroglossia OMIM:242860
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Telecanthus, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Congenital Varicella Syndrome
Micromelia, Microphthalmia, Intrauterine growth retardation ORPHA:291
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Downslanted palpebral fissures, Smooth philtrum, Epicanthus, Syndactyly OMIM:602501
Joubert Syndrome 14
Short philtrum, Open mouth, Tented upper lip vermilion, Ptosis, Highly arched eyebrow, Microphtha... OMIM:614424
Acromelic Frontonasal Dysostosis
Cleft upper lip, Preaxial polydactyly, U-Shaped upper lip vermilion, Ptosis, Polydactyly, Downsla... OMIM:603671
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Midface retrusion, Inguinal hernia, Microphthalmia, Tooth agenesis, Cleft palate ORPHA:1135
Achard Syndrome
Joint laxity, Broad skull, Brachycephaly OMIM:100700
Solitary Median Maxillary Central Incisor
Anophthalmia, Solitary median maxillary central incisor, Cleft upper lip, Microphthalmia, Colobom... OMIM:147250
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, High palate, Long philtrum, Midface retrusion, Arachnodactyly, Adducted thumb, Tali... OMIM:615539
Macrocephaly-Developmental Delay Syndrome
Frontal bossing, Macrocephaly, Scaphocephaly, Craniosynostosis ORPHA:397612
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Clinodactyly, Upslanted palpebral fissure, Tapered finger, Tented upper lip vermilion, Ptosis, Ma... OMIM:309580
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Craniosynostosis, Turricephaly ORPHA:1496
Meckel Syndrome, Type 2
Bowing of the long bones, Intrauterine growth retardation, Anencephaly, Polydactyly, Microphthalm... OMIM:603194
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Preaxial polydactyly ORPHA:141333
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Everted lower lip vermilion, Smooth philtrum, Abnormal thumb morphology ORPHA:324410
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Turricephaly, Brachycephaly ORPHA:2145
Joubert Syndrome 22
Intrauterine growth retardation, Postaxial foot polydactyly, 2-3 toe syndactyly, Microphthalmia, ... OMIM:615665
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short palm, Intrauterine growth retardation, Rhizomelia, Metaphyseal chondrodyspl... ORPHA:163966
Faciothoracogenital Syndrome
Microphthalmia, Thin upper lip vermilion, Long philtrum, Smooth philtrum OMIM:227320
Hao-Fountain Syndrome
Trigonocephaly, Large fontanelles, Delayed cranial suture closure OMIM:616863
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Anophthalmia, Short 5th metacarpal, Finger syndactyly, Short palm, Short 4th meta... ORPHA:264200
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Short palm, Unilateral cleft lip, Cone-shaped epiphysis... ORPHA:2511
Oculotrichoanal Syndrome
Anophthalmia, Cryptophthalmos, Anal stenosis, Nasolacrimal duct obstruction, Microphthalmia, Uppe... ORPHA:2717
Monosomy 18P
Brachydactyly, Short philtrum, Generalized dystonia, Hypodontia, Carious teeth, Ptosis, Microphth... ORPHA:1598
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Finger syndactyly, Telecanthus, Tented upper lip vermilion, Highly a... ORPHA:313781
Developmental Delay With Variable Neurologic And Brain Abnormalities
Upslanted palpebral fissure, Sparse lateral eyebrow, Microdontia, Widely spaced teeth, Down-slopi... OMIM:619694
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Microcephaly, Craniosynostosis, Flexion contracture OMIM:619076
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long eyelashes, Rhizomelia, Microphthalmia, Coloboma, Epicanthus OMIM:615877
Microphthalmia, Syndromic 13
Microphthalmia, Coloboma, Diastema, Ptosis OMIM:300915
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Midface retrusion, Frontal bossing, Delaye... OMIM:603116
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Facial hyperostosis, Macrocephaly, Frontal bossing, Large fontane... ORPHA:2780
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Radioulnar synostosis, Turricephaly, Large fontanelles, Brachycephaly ORPHA:171839
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Upslanted palpebral fissure, Partial duplication of the phalanx of h... OMIM:616331
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Long philtrum, Abnormality of epiphysis morphology, Short metacarpal, R... ORPHA:50945
Chromosome 1Q41-Q42 Deletion Syndrome
Upslanted palpebral fissure, Cleft upper lip, Microphthalmia, Frontal bossing, Talipes equinovaru... OMIM:612530
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Craniosynostosis, Microcephaly, Frontal bossing, Trigonocephaly, Scaphocephaly OMIM:266920
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Crouzon Syndrome
Multiple suture craniosynostosis, Midface retrusion, Frontal bossing, Turricephaly, Brachycephaly ORPHA:207
Cofs Syndrome
Intrauterine growth retardation, Everted lower lip vermilion, Microphthalmia, Camptodactyly of fi... ORPHA:1466
Juvenile Sialidosis Type 2
Umbilical hernia, Protruding tongue, Inguinal hernia, Gingival overgrowth ORPHA:93399
Holoprosencephaly
Upslanted palpebral fissure, Dystonia, Thick eyebrow, Ptosis, Highly arched eyebrow, Intestinal a... ORPHA:2162
Degcags Syndrome
Long philtrum, Short thumb, Ptosis, Intestinal atresia, Genu valgum, High palate, Intrauterine gr... OMIM:619488
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Aplasia/Hypoplasia of the eyebrow, Microdontia, Short uvula, Micromelia, Epicanthus, Cleft palate... OMIM:614091
3Q29 Microduplication Syndrome
Biparietal narrowing, High palate, Ectopic anus, Toe syndactyly, Craniosynostosis, Sandal gap, Ir... ORPHA:251038
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Coffin-Siris Syndrome 7
Sagittal craniosynostosis, Trigonocephaly OMIM:618027
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Microphthalmia, Coloboma, Downslanted palpebral fissures, Br... OMIM:611961
Pycnodysostosis
Prominent occiput, Wormian bones, Increased bone mineral density, Osteolytic defects of the dista... OMIM:265800
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Cleft upper lip, Long philtrum, Duplication of phalanx of hallux, Ptosis,... OMIM:243310
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Large fontanelles ORPHA:436
Holoprosencephaly-Craniosynostosis Syndrome
Microcephaly, Plagiocephaly, Craniosynostosis, Brachycephaly ORPHA:2163
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyse... OMIM:300863
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Recurrent fractures, Frontal bossing, Turricephaly, Brachyceph... ORPHA:83
Menkes Disease
Wormian bones, Joint laxity, Osteoporosis, Microcephaly, Brachycephaly OMIM:309400
Craniotelencephalic Dysplasia
Craniosynostosis OMIM:218670
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynostosis, Midface retrusion, Fr... OMIM:207410
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Microcephaly-Micromelia Syndrome
Narrow mouth, Short palpebral fissure, Craniosynostosis, Intrauterine growth retardation, Absent ... OMIM:251230
Suleiman-El-Hattab Syndrome
Brachydactyly, High palate, Clinodactyly, Single transverse palmar crease, Long philtrum, Droolin... OMIM:618950
Angelman Syndrome
Drooling, Widely spaced teeth, Ptosis, Wide mouth, Flat occiput, Protruding tongue, Tremor ORPHA:72
Mosaic Trisomy 1
Absent distal interphalangeal creases, Hand clenching, Cleft palate, 2-3 finger syndactyly, Singl... ORPHA:1692
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Ptosis, Inguinal hernia, Hypoplastic iliac wing, Sh... OMIM:609945
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Abnormal distal phalanx morphology of finger, Everted lower lip verm... ORPHA:1387
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Microce... OMIM:178110
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Pierre-Robin sequence, Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Short palpebr... ORPHA:364577
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Clinodactyly, Plagiocephaly, Upslanted palpebral fissure, Open mouth, Widely spaced ... ORPHA:369891
Orofaciodigital Syndrome Xi
Downslanted palpebral fissures, Cleft palate, Postaxial polydactyly OMIM:612913
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Tapered finger, Tented upper lip vermilion, Short thumb, Epicanthus, Encep... OMIM:619148
Acrofrontofacionasal Dysostosis
Brachydactyly, High palate, Abnormality of epiphysis morphology, Non-midline cleft lip, Aplasia/H... ORPHA:1784
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Cerebrooculofacioskeletal Syndrome 4
Short philtrum, Intrauterine growth retardation, Dislocated radial head, Rocker bottom foot, Blep... OMIM:610758
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Postaxial foot polydactyly, Non-midline cleft lip, Enamel h... ORPHA:2919
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Dolichocephaly, Pathologic fracture, Abnormal cortical bone morphology, Limitation... ORPHA:166277
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Ankle flexion contracture, Primary microcephaly, Limb joint contracture, Knee f... ORPHA:284417
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Microphthalmia, Synophrys, Cleft pa... ORPHA:261272
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, High palate, Upslanted palpebral fissure, Intrauterine growth reta... OMIM:618142
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Microcephaly, Brachycephaly ORPHA:320385
Pseudodiastrophic Dysplasia
Elbow dislocation, Midface retrusion, Frontal bossing, Brachycephaly, Camptodactyly, Phalangeal d... OMIM:264180
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Short palm, Broad palm, Thick lower lip vermilion, Tapered fing... OMIM:300602
Chopra-Amiel-Gordon Syndrome
Joint hypermobility, Microcephaly, Midface retrusion, Brachycephaly, Macrocephaly OMIM:619504
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Widely spaced teeth, Wide mouth ORPHA:98795
Marden-Walker Syndrome
Narrow mouth, High palate, Long philtrum, Intrauterine growth retardation, High, narrow palate, P... OMIM:248700
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Everted lower lip vermilion, Highly arched eyebrow, Long palpebral f... ORPHA:228399
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Hand clenching, Opisthotonus, Drooling OMIM:619580
Proboscis Lateralis
Long philtrum, Optic nerve hypoplasia, Ptosis, Nasolacrimal duct obstruction, Abnormality of the ...