Gene Summary

Name:
keratin 14
Synonyms:
Cytokeratin 14,  Krt1-14,  epidermolysis bullosa simplex, Dowling-Meara, Koebner,  Krt-1.14,  K14

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
microcephaly Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
syndactyly Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
microphthalmia Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
polydactyly Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
syndactyly Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
microcephaly Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
preweaning lethality, complete penetrance Krt14tm1.1(KOMP)Vlcg HOM   Early adult 0.00
spina bifida Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
anophthalmia Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
hemorrhage Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
hemorrhage Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
spina bifida Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
microphthalmia Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
polydactyly Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
anophthalmia Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A homozygote 40% (2 of 5)
Brain N/A homozygote 0.0% (0 of 5)
Central nervous system ganglion N/A homozygote 0.0% (0 of 3)
Dorsal root ganglion N/A homozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 5)
Embryo N/A homozygote 100% (5 of 5)
Eye N/A homozygote 20% (1 of 5)
Footplate N/A homozygote 100% (5 of 5)
Forebrain N/A homozygote 0.0% (0 of 5)
Forelimb N/A homozygote 100% (5 of 5)
Fronto-nasal process N/A homozygote 100% (5 of 5)
Handplate N/A homozygote 100% (5 of 5)
Head mesenchyme N/A homozygote 100% (5 of 5)
Head N/A homozygote 100% (5 of 5)
Heart N/A homozygote 0.0% (0 of 5)
Hindbrain N/A homozygote 0.0% (0 of 5)
Hindlimb N/A homozygote 100% (5 of 5)
Liver N/A homozygote 0.0% (0 of 5)
Mandibular process N/A homozygote 100% (5 of 5)
Maxillary process N/A homozygote 100% (5 of 5)
Meckel's cartilage N/A homozygote 100% (3 of 3)
Midbrain N/A homozygote 0.0% (0 of 5)
Nasal septum N/A homozygote 0.0% (0 of 5)
Nose N/A homozygote 100% (5 of 5)
Notochord N/A homozygote 0.0% (0 of 4)
Oral cavity N/A homozygote 100% (5 of 5)
Skeleton N/A homozygote 80% (4 of 5)
Skin N/A homozygote 100% (5 of 5)
Spinal cord N/A homozygote 0.0% (0 of 5)
Tail somite N/A homozygote 60% (3 of 5)
Tail N/A homozygote 60% (3 of 5)
Thoracic vertebral cartilage condensation N/A homozygote 0.0% (0 of 1)
Trunk mesenchyme N/A homozygote 100% (5 of 5)
Vibrissa N/A homozygote 100% (5 of 5)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
trunk mesenchyme 1.67% (1 of 60)
vibrissa 1.35% (1 of 74)

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 Section

72 Images

MicroCT E14.5-E15.5

Embryo reconstruction

7 Images

Human diseases caused by Krt14 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 Krt14 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Milia, Spotty hypopigmentation, Papule, Plantar hyperkeratosis, Palmar hyperkeratosis, Hypermelan... ORPHA:79399
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Milia, Atrophic scars, Palmoplantar hyperkeratosis OMIM:131760
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Milia, Atrophic scars, Palmoplantar hyperkeratosis, Skin erosion, Hyperkeratosis, Aplasia cutis c... ORPHA:89838
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Milia, Palmoplantar hyperkeratosis OMIM:131900
Localized Epidermolysis Bullosa Simplex
Milia, Atrophic scars, Plantar hyperkeratosis, Skin plaque, Palmar hyperkeratosis, Focal friction... ORPHA:79400
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Milia, Hyperkeratotic papule, Spotty hypopigmentation, Plantar hyperkeratosis, Palmar hyperkerato... ORPHA:79397
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Squamous cell carcinoma of the skin, Recurrent skin infections ORPHA:79396
Naegeli-Franceschetti-Jadassohn Syndrome
Milia, Palmoplantar hyperkeratosis, Punctate palmoplantar hyperkeratosis, Subungual hyperkeratosi... ORPHA:69087
Naegeli-Franceschetti-Jadassohn Syndrome
Palmoplantar keratoderma OMIM:161000
Dermatopathia Pigmentosa Reticularis
Palmoplantar hyperkeratosis OMIM:125595
Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive
OMIM:601001

The table below shows human diseases predicted to be associated to Krt14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Microphthalmia, Microcephaly, Brachydactyly OMIM:233270
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema, Acantholysis, Hyperkeratosis ORPHA:2841
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Darier Disease
Skin vesicle, Plantar pits, Acrokeratosis, Macule, Hypermelanotic macule, Palmoplantar keratoderm... ORPHA:218
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Thick corpus callosum, Macrocephaly, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand po... OMIM:615938
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Congenital Panfollicular Nevus
Hamartoma, Pruritus, Hyperkeratosis ORPHA:139414
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Dowling-Degos Disease
Palmar pits, Skin vesicle, Hyperkeratotic papule, Hyperpigmented papule, Digital pitting scar, Ep... ORPHA:79145
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticarial plaque, Parake... ORPHA:64745
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Follicular hyperkeratosis, Perioral hyperkeratosis OMIM:613000
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Micr... ORPHA:64754
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia OMIM:611638
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Neoplasm, Neoplasm of the skin ORPHA:315
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Meckel Syndrome, Type 8
Polydactyly, Encephalocele, Anophthalmia, Microphthalmia, Microcephaly, Occipital encephalocele, ... OMIM:613885
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis ORPHA:254478
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Acne inversa, Squamous cell carcinoma, Recurrent cutaneou... OMIM:613736
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia, Microcephaly ORPHA:3434
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Localized skin lesion, Hyperkeratotic papule, Skin vesicle, Keloids, Atrophic scars, Skin ... ORPHA:79410
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Pemphigus Foliaceus
Skin vesicle, Annular cutaneous lesion, Acantholysis, Scaling skin, Skin erosion, Erythema, Eryth... ORPHA:79481
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Rocker bottom f... OMIM:616570
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... OMIM:600384
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis ORPHA:158681
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Congenital hip dislocation, Mic... OMIM:164180
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Porokeratosis
Pruritus, Squamous cell carcinoma of the skin, Hyperkeratosis ORPHA:79358
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial h... ORPHA:945
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Macrocephaly, Hydrocephal... ORPHA:1931
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Ulnar Hemimelia
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... ORPHA:93320
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... OMIM:211960
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... OMIM:615771
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyl... ORPHA:139471
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Humero-Radial Synostosis
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... ORPHA:3265
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Anophthalmia, Hip ... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... OMIM:610140
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Microcephaly OMIM:251220
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Iga Pemphigus
Skin vesicle, Annular cutaneous lesion, Skin plaque, Skin erosion, Acantholysis ORPHA:555905
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis... ORPHA:380
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... ORPHA:1113
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Dermatitis Herpetiformis
Skin vesicle, Macule, Erythema ORPHA:1656
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly OMIM:610023
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia, Abnormal thumb morphology OMIM:614082
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... ORPHA:1528
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Skin ulcer, Papule ORPHA:48104
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Wells Syndrome
Skin vesicle ORPHA:901
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly,... OMIM:603194
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
15Q11Q13 Microduplication Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Skin vesicle, Aplasia/Hypoplasia of the skin, Papule ORPHA:257
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Agenesis of cerebellar vermis, Anencephaly, Hydrocephalus, Microphtha... OMIM:611134
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... OMIM:218670
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Hypoplasia of the corpus callosum... OMIM:615665
Meckel Syndrome, Type 5
Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Occipital en... OMIM:611561
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Preaxial polydactyly ORPHA:141333
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microphthalmia, Microcephaly ORPHA:291
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius ORPHA:2476
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Anophthalmia Plus Syndrome
Spina bifida, Deviation of finger, Anophthalmia ORPHA:1104
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... OMIM:603546
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Cavum septum pellucidum, Hydrocephalus, Syndactyly, Megalencephaly, Microphthalmia, ... OMIM:602501
Acquired Ichthyosis
Lymphoma, Pruritus, Sarcoma, Multiple myeloma, Neoplasm, Hyperkeratosis, Recurrent skin infection... ORPHA:454
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... ORPHA:2839
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Dyskeratosis Congenita
Anorectal anomaly, Skin vesicle, Abnormal testis morphology, Malabsorption, Skin ulcer, Esophagea... ORPHA:1775
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Clinodactyly, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of t... ORPHA:166024
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Seckel Syndrome 2
Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger, Microcephaly, Microphthalmia OMIM:606744
Hydrolethalus
Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydac... ORPHA:2189
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... ORPHA:1617
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... OMIM:182230
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Lissencephaly 8
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... OMIM:617255
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, ... OMIM:613155
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Palmoplantar keratoderma, Squamous cell carcinoma of the skin ORPHA:85112
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Short toe, Hallux valgus, Spina bifida, Toe syndactyly, Short distal pha... ORPHA:1327
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Microphthalmia, Cerebellar hypoplasia OMIM:614830
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Czeizel-Losonci Syndrome
Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of toes, Spina bif... ORPHA:2437
Acropectoral Syndrome
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx OMIM:605967
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Bardet-Biedl Syndrome 22
Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly OMIM:617119
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis OMIM:617571
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... OMIM:225280
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia, Microcephaly ORPHA:3469
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... ORPHA:1553
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypopl... ORPHA:2117
Brachydactyly-Syndactyly, Zhao Type
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... ORPHA:93409
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Type II lissencephaly, Microphthalmia, Occipital encephalocele, Macrocephaly at birth ORPHA:324416
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... OMIM:136760
Temtamy Syndrome
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... ORPHA:1777
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Spina bifida, Abnormal thumb morphology, Proximal... ORPHA:1120
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Carpenter Syndrome
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... ORPHA:65759
Ichthyosis, Congenital, Autosomal Recessive 10
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma OMIM:615024
Microphthalmia, Syndromic 8
Split foot, Microphthalmia, Microcephaly OMIM:601349
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microphthalmia, Cerebral atrophy, Microcephaly OMIM:274270
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia, Microcephaly OMIM:619981
Walker-Warburg Syndrome
Metatarsus valgus, Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, H... ORPHA:899
Nanophthalmos
Microphthalmia ORPHA:35612
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... ORPHA:1106
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebra... ORPHA:1466
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia ORPHA:2440
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Schisis Association
Spina bifida, Anencephaly, Encephalocele, Microcephaly ORPHA:63862
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... ORPHA:3250
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Aplasia cutis congenita of scalp, Esophageal stenosis... OMIM:619817
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Cerebellar hypoplasia, Toe synd... ORPHA:261344
Adams-Oliver Syndrome 3
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Microcephaly, Absent toe, Short distal phala... OMIM:614814
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Hypomelanosis Of Ito
Clinodactyly, Hand polydactyly, Macrocephaly, Syndactyly, Radial deviation of finger, Microcephal... OMIM:300337
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... ORPHA:1908
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... OMIM:618447
Femur-Fibula-Ulna Complex
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... ORPHA:2019
Nanophthalmos 4
Microphthalmia OMIM:615972
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... OMIM:169550
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Orthokeratosis OMIM:604117
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Syndactyly, Macrocephaly, Tapered finger, Clinodactyly of the 5th finger OMIM:618725
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Milia, Spotty hypopigmentation, Papule, Plantar hyperkeratosis, Palmar hyperkeratosis, Hypermelan... ORPHA:79399
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Macrocephaly, Metaphyseal cupping of ... OMIM:300863
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Recessive Dystrophic Epidermolysis Bullosa Inversa
Milia, Localized skin lesion, Esophageal stricture, Corneal erosion, Vaginal stricture, Atrophic ... ORPHA:79409
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia ORPHA:411986
Fountain Syndrome
Large hands, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, ... ORPHA:3219
Porphyria Variegata
Milia, Localized skin lesion, Skin vesicle, Hepatocellular carcinoma, Skin erosion, Ileus ORPHA:79473
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Cerebellar hypoplasia, Overlapping toe, Microphthalmia, Microcephaly,... OMIM:600118
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral w... OMIM:619091
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Solitary Median Maxillary Central Incisor
Microphthalmia, Holoprosencephaly, Anophthalmia, Microcephaly OMIM:147250
Curry-Jones Syndrome
Hemimegalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, ... OMIM:601707
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Macrocephaly, Brachydactyly, Syndactyly, Megalenceph... OMIM:600325
17Q12 Microduplication Syndrome
Toe syndactyly, Microphthalmia, Finger syndactyly, Cortical dysplasia ORPHA:261272
Orofaciodigital Syndrome Xviii
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... OMIM:617927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebr... OMIM:251270
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Thin skin, Milia, Esophageal stricture, Palmoplantar hyperkeratosis, Erythema, Er... ORPHA:158673
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand DECIPHER:46
Neu-Laxova Syndrome 2
Finger syndactyly, Cerebellar hypoplasia, Spina bifida, Toe syndactyly, Lissencephaly, Microcepha... OMIM:616038
Summitt Syndrome
Syndactyly OMIM:272350
Meckel Syndrome, Type 3
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... OMIM:607361
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Agenesis of co... OMIM:207950
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... ORPHA:2141
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Conjunctivitis, Milia, Esophageal stricture, Corneal scarring, Atrophic scars, Cataract, Abnormal... OMIM:226600
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum ORPHA:63260
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis, Erythroderma OMIM:133200
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Milia, Atrophic scars, Palmoplantar hyperkeratosis OMIM:131760
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Agenesis of ... OMIM:175700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Optic ner... OMIM:615181
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Trisomy 13
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Microphthal... ORPHA:3378
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Thick corpus callosum, Hydrocephalus, Macrocephaly, Mitral regurgitation,... OMIM:603387
Periventricular Nodular Heterotopia 1
Cerebral hemorrhage, Cerebellar hypoplasia, Thin corpus callosum, Short finger, Clinodactyly, Syn... OMIM:300049
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Skin ulcer, Papule ORPHA:2314
Joubert Syndrome 16
Polydactyly, Encephalocele, Dandy-Walker malformation OMIM:614465
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... ORPHA:2492
Pierpont Syndrome
Short toe, Abnormal cortical gyration, Primary microcephaly, Short finger, Excessive wrinkling of... ORPHA:487825
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Anophthalmia, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Hennekam-Beemer Syndrome
Skin vesicle, High palate, Papule, Macule, Subcutaneous nodule, Erythema ORPHA:2135
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Hydrocephal... OMIM:613153
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis, Esophageal carcinoma OMIM:148500
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Summitt Syndrome
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Macrocephaly, Clin... ORPHA:3210
Moebius Syndrome
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... OMIM:157900
Developmental Delay With Variable Neurologic And Brain Abnormalities
Thin corpus callosum, Camptodactyly, Down-sloping shoulders, Microphthalmia, Microcephaly, Cubitu... OMIM:619694
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Cerebellar hypoplasia, Hydrocep... ORPHA:163966
Laurin-Sandrow Syndrome
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... OMIM:135750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum ORPHA:77298
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Anophthalmia, Abnormal finger morphology, Abnormal cortical gyration, Abnormal... ORPHA:2538
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Milia, Atrophic scars, Palmoplantar hyperkeratosis, Skin erosion, Hyperkeratosis, Aplasia cutis c... ORPHA:89838
Gordon Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:376
Nail-Patella Syndrome
Biceps aplasia, Patellar hypoplasia, Patellar aplasia, Hypoplastic radial head, Spina bifida, Ili... OMIM:161200
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Milia, Palmoplantar hyperkeratosis OMIM:131900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th finger, Brachydactyly... OMIM:618914
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis OMIM:602723
Nephronophthisis 15
Polydactyly, Cerebellar vermis hypoplasia OMIM:614845
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Skin vesicle, Esophageal stricture, Intermittent generalized erythematou... ORPHA:99921
Pierpont Syndrome
Short toe, Short foot, Short finger, Microphthalmia, Microcephaly, Deep palmar crease, Short palm... OMIM:602342
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum, Skin nodule, Inflammation of the large intestine, Erythematou... ORPHA:3243
Adams-Oliver Syndrome 2
Cerebellar hypoplasia, Hydrocephalus, Macrocephaly, Single transverse palmar crease, Absent dista... OMIM:614219
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Meckel Syndrome, Type 10
Cerebellar hypoplasia, Anencephaly, Camptodactyly, Dandy-Walker malformation, Postaxial foot poly... OMIM:614175
Ichthyosis, Hystrix-Like, With Deafness
Cobblestone-like hyperkeratosis, Squamous cell carcinoma, Palmoplantar hyperkeratosis, Palmoplant... OMIM:602540
Joubert Syndrome 18
Agenesis of cerebellar vermis, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Occip... OMIM:614815
Camptobrachydactyly
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... ORPHA:1319
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Cerebellar hypopl... OMIM:610758
Grange Syndrome
Aortic regurgitation, Syndactyly, Short palm, Hypertension ORPHA:79094
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Syringomyelia, Phocomelia, Ta... OMIM:274000
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin OMIM:181600
Joubert Syndrome 10
Macrocephaly, Postaxial polydactyly, Cerebellar vermis hypoplasia OMIM:300804
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, E... ORPHA:411696
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal palmar dermatoglyphics, Finger syndactyly, Spina bifida, Toe sy... ORPHA:2092
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Proximal placement of thumb, Abnormal metaphysis morphology, Abnormal epiphysis m... ORPHA:93267
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Macrocephaly, Epiphyseal dysplasia, Flatt... OMIM:607131
Olmsted Syndrome, X-Linked
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... OMIM:300918
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus... OMIM:615249
Pilomatrixoma
Pilomatrixoma, Pruritus, Neoplasm of head and neck ORPHA:91414
Meckel Syndrome
Preaxial hand polydactyly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the corpus callosum... ORPHA:564
Bazex Syndrome
Pruritus, Lung adenocarcinoma, Parakeratosis, Neoplasm, Hyperkeratosis, Liposarcoma, Palmoplantar... ORPHA:166113
Monosomy 5P
Finger syndactyly, Small hand, Microcephaly ORPHA:281
Vacterl With Hydrocephalus
Aqueductal stenosis, Anophthalmia, Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Hydro... ORPHA:3412
Sclerosteosis
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly ORPHA:3152
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Preaxial hand polydactyly, Short 5th finger, Spina bifida, Broad phalanx, Per... ORPHA:508498
Caudal Duplication
Spina bifida, Spinal cord lesion, Myelomeningocele ORPHA:1756
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Abnormal large intestine morphology, Esophageal neoplasm, Abnormal esoph... ORPHA:2198
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Optic nerve ... OMIM:605627
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Orthokeratosis OMIM:618084
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Abnormality of the upper limb, Encephalocele, Finger syndactyly,... ORPHA:974
Basal Cell Nevus Syndrome 1
Palmar pits, Polydactyly, Short 4th metacarpal, Spina bifida, Hydrocephalus, Macrocephaly, Down-s... OMIM:109400
Brachydactyly, Type B1
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... OMIM:113000
Mosaic Trisomy 9
Camptodactyly of finger, Spina bifida, Biparietal narrowing, Hip dislocation, Dandy-Walker malfor... ORPHA:99776
Joubert Syndrome 14
Meningocele, Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Intracranial hemorrhage, ... OMIM:614424
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Corneal dystrophy, Tracheoesophageal fistula, Cataract, Furrowed tongue, Hyper... ORPHA:1839
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Ap... ORPHA:1926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Microcephaly, Hypoplastic ischia OMIM:616910
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal shoulder morphology ORPHA:2345
Camptobrachydactyly
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... OMIM:615986
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syndactyly, Anopht... ORPHA:264200
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Cataract, Uterine leiomyoma, Barre... ORPHA:523
Bartsocas-Papas Syndrome 2
Microphthalmia, Absent distal phalanges, Small hand, 2-5 finger cutaneous syndactyly OMIM:619339
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Achalasia, Hypo... ORPHA:1018
Kindler Syndrome
Dermal atrophy, Corneal erosion, Phimosis, Spotty hypopigmentation, Esophageal stenosis, Symbleph... OMIM:173650
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Spina bifida, Porencephalic cyst, Clinodactyly of the 5th finger, ... ORPHA:1393
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... OMIM:617914
Trisomy 18
Camptodactyly of finger, Abnormality of the upper limb, Aplasia/Hypoplasia of the corpus callosum... ORPHA:3380
Congenital Toxoplasmosis
Cerebral calcification, Hydrocephalus, Microphthalmia, Microcephaly ORPHA:858
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Foot polydactyly, Porencephalic cyst, Short finger, Hand polydactyly... OMIM:258860
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper ... ORPHA:88630
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia ORPHA:2547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Cerebral ischemia, Toe syndactyly, Foot ... ORPHA:60040
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Microphthalmia, Rocker bottom foot, Microcephaly OMIM:610756
Bresek Syndrome
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Postaxial hand polydactyly ORPHA:85284
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Aniridia, Mitral regurgitation,... ORPHA:1101
Olmsted Syndrome 2
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Perioral hyperker... OMIM:619208
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... OMIM:617102
Cousin Syndrome
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... OMIM:260660
Charlie M Syndrome
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly ORPHA:1406
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... ORPHA:2633
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Lissencephaly, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Dysplastic corpus callosum, ... OMIM:614833
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Relative macrocephaly, Clinodactyly of the 5th finger, Upper limb asymmetry ORPHA:231140
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Milia, Esophageal stricture, Corneal erosion, Ankyloglossia, Esophageal ... ORPHA:89842