Gene Summary

Name:
keratin 14
Synonyms:
Cytokeratin 14,  epidermolysis bullosa simplex, Dowling-Meara, Koebner,  Krt1-14,  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
hemorrhage Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
preweaning lethality, complete penetrance Krt14tm1.1(KOMP)Vlcg HOM   Early adult 0.00
microcephaly Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
syndactyly Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
spina bifida Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
anophthalmia Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
anophthalmia Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
hemorrhage Krt14tm1.1(KOMP)Vlcg HOM E15.5 0.00
spina bifida 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
microphthalmia Krt14tm1.1(KOMP)Vlcg HET E15.5 0.00
polydactyly Krt14tm1.1(KOMP)Vlcg HET E15.5 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
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
trunk mesenchyme Ambiguous
vibrissa Ambiguous

Associated Images

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

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
Hyperkeratosis, Milia OMIM:131800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hyperkeratosis, Hypomelan... ORPHA:79399
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Atrophic scars, Milia, Palmoplantar hyperkeratosis OMIM:131760
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophic ... ORPHA:89838
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Milia, Palmoplantar hyperkeratosis OMIM:131900
Localized Epidermolysis Bullosa Simplex
Plantar hyperkeratosis, Skin plaque, Focal friction-related palmoplantar hyperkeratosis, Atrophic... ORPHA:79400
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic macule, Pal... ORPHA:79397
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Recurrent skin infections, Squamous cell carcinoma of the skin ORPHA:79396
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry ... 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
Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac... OMIM:615938
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Plantar pits, Palmoplantar keratoderma, Skin vesicl... ORPHA:218
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis, Hamartoma ORPHA:139414
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Reticulate Acropigmentation Of Kitamura
Macule, Hyperkeratosis OMIM:615537
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Milia OMIM:131800
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Penile freckling, Palmar pits, Digi... ORPHA:79145
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplanta... ORPHA:64745
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:613000
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... ORPHA:64754
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
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
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... OMIM:613885
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis ORPHA:254478
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb, 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
Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Atrophic sca... ORPHA:79410
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Congenital Varicella Syndrome
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly ORPHA:291
Pemphigus Foliaceus
Acantholysis, Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesi... ORPHA:79481
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... OMIM:600384
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Age... OMIM:616570
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Hypoplasia of the corpus callosu... OMIM:164180
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Parakeratosis, Erythema migrans, Palmoplantar hyperkeratosis ORPHA:158681
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:945
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort... OMIM:615771
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... OMIM:211960
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... ORPHA:139471
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... ORPHA:3265
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Iga Pemphigus
Acantholysis, Annular cutaneous lesion, Skin vesicle, Skin erosion, Skin plaque ORPHA:555905
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... ORPHA:3268
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... OMIM:615297
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia ORPHA:294975
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Dermatitis Herpetiformis
Macule, Skin vesicle, Erythema ORPHA:1656
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Microcephaly OMIM:614082
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Papule, Skin ulcer ORPHA:48104
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Wells Syndrome
Skin vesicle ORPHA:901
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h... OMIM:611134
Joubert Syndrome 22
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... OMIM:615665
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Lissencephaly 8
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... OMIM:617255
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella... OMIM:218670
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... ORPHA:2839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... OMIM:603546
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Polydactyly, Microphthalmia,... OMIM:602501
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Lymphoma, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm... ORPHA:454
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... ORPHA:166024
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Feingold Syndrome Type 2
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Hydrolethalus
Anophthalmia, Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, An... ORPHA:2189
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca... OMIM:613155
Seckel Syndrome 2
Microcephaly, Heart murmur, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Septooptic Dysplasia
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Polydactyly, Short finge... OMIM:182230
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Schisis Association
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly ORPHA:63862
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections ORPHA:79503
Dyskeratosis Congenita
Macule, Aplasia/Hypoplasia of the skin, Cataract, Hypermelanotic macule, Esophageal stenosis, Mal... ORPHA:1775
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Hyperkeratosis Lenticularis Perstans
Pruritus, Basal cell carcinoma, Hyperkeratosis lenticularis perstans, Squamous cell carcinoma ORPHA:409
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly OMIM:617119
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
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
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... ORPHA:1327
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... ORPHA:2437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:616171
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Microcephaly ORPHA:3469
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Hartsfield Syndrome
Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap... ORPHA:2117
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger OMIM:618725
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Microphthalmia, Type II lissencephaly ORPHA:324416
Frontonasal Dysplasia 1
Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy... OMIM:136760
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal c... OMIM:300863
Temtamy Syndrome
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... ORPHA:1777
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh... ORPHA:1120
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... ORPHA:65759
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... ORPHA:370010
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydr... ORPHA:1908
Microphthalmia, Syndromic 8
Microphthalmia, Split foot, Microcephaly OMIM:601349
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly, Microcephaly OMIM:619981
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Walker-Warburg Syndrome
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, ... ORPHA:899
Nanophthalmos
Microphthalmia ORPHA:35612
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Acute Generalized Exanthematous Pustulosis
Acantholysis, Conjunctivitis, Scaling skin, Skin vesicle, Purpura ORPHA:293173
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cofs Syndrome
Cerebral calcification, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the cerebell... ORPHA:1466
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Congenital pyloric atresia, Neona... OMIM:619817
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
17Q12 Microduplication Syndrome
Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly ORPHA:261272
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Hypomelanosis Of Ito
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... OMIM:300337
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Trisomy 1Q
Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,... ORPHA:261344
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Adams-Oliver Syndrome 3
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... OMIM:614814
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Mic... OMIM:300887
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hyperkeratosis, Hypomelan... ORPHA:79399
Porphyria Variegata
Localized skin lesion, Ileus, Hepatocellular carcinoma, Skin vesicle, Skin erosion, Milia ORPHA:79473
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... OMIM:619091
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Overlapping toe, Microcephaly, Perisylvian polymicrogyria, Cerebral... OMIM:600118
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Macrocephaly, Large ha... ORPHA:3219
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... OMIM:601707
Fanconi Anemia, Complementation Group R
Tethered cord, Microcephaly, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia OMIM:617244
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly OMIM:147250
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph... OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Erythema, Palmoplantar hyperkeratosis, Erythematous plaque, Dermal atrophy,... ORPHA:158673
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Recessive Dystrophic Epidermolysis Bullosa Inversa
Localized skin lesion, Corneal erosion, Esophageal stricture, Gastrointestinal inflammation, Atro... ORPHA:79409
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... OMIM:616038
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... OMIM:251270
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Cataract, Esophageal stricture, Corneal scarring, Atrophic sc... OMIM:226600
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Summitt Syndrome
Syndactyly OMIM:272350
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... OMIM:615181
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus, Thick corpus callos... OMIM:603387
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Atrophic scars, Milia, Palmoplantar hyperkeratosis OMIM:131760
Periventricular Nodular Heterotopia 1
Syndactyly, Cerebral hemorrhage, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short ... OMIM:300049
Pierpont Syndrome
Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr... ORPHA:487825
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Trisomy 13
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... ORPHA:3378
Joubert Syndrome 16
Encephalocele, Polydactyly, Dandy-Walker malformation OMIM:614465
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Moebius Syndrome
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Hy... OMIM:157900
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Skin ulcer, Papule ORPHA:2314
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Microcephaly, Cubitus valgus, Camptodactyly, Microphthalmia, Thin corpus ... OMIM:619694
Hennekam-Beemer Syndrome
Macule, Erythema, Subcutaneous nodule, High palate, Skin vesicle, Papule ORPHA:2135
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Esophageal carcinoma, Follicular hyperkeratosis OMIM:148500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... OMIM:613153
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... ORPHA:3210
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Adams-Oliver Syndrome 2
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Absent distal pha... OMIM:614219
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum ORPHA:77298
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophic ... ORPHA:89838
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Pierpont Syndrome
Microcephaly, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Pr... OMIM:602342
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... OMIM:161200
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Milia, Palmoplantar hyperkeratosis OMIM:131900
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Diffuse cerebral atrophy, Arachnodactyly, Broad hallux, Proximal placement of thum... OMIM:613776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... ORPHA:93267
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... OMIM:618914
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Squamous cell carcinoma, Hyperkeratosis, Cobblestone-like hyperkerat... OMIM:602540
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Chronic Graft Versus Host Disease
Phimosis, Esophageal stricture, Erythema, Xerostomia, Intermittent generalized erythematous papul... ORPHA:99921
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Sweet Syndrome
Skin nodule, Pyoderma gangrenosum, Erythematous plaque, Inflammation of the large intestine, Skin... ORPHA:3243
Grange Syndrome
Aortic regurgitation, Syndactyly, Hypertension, Short palm ORPHA:79094
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Postaxial polydactyly, Macrocephaly OMIM:300804
Pilomatrixoma
Pruritus, Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thumb, Flared metaphysis, Hip... OMIM:610758
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... OMIM:274000
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic... OMIM:615249
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin OMIM:181600
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... ORPHA:2092
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o... OMIM:607131
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Spina b... ORPHA:99776
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Preaxial hand polydactyly, P... ORPHA:564
Bazex Syndrome
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm, Lung adenocarcinoma,... ORPHA:166113
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla... ORPHA:508498
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,... OMIM:614815
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly... OMIM:605627
Monosomy 5P
Finger syndactyly, Small hand, Microcephaly ORPHA:281
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abn... ORPHA:2538
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... ORPHA:974
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial polydactyly... OMIM:614424
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia, Microcephaly OMIM:616910
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Diabetic Embryopathy
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi... ORPHA:1926
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hyper... ORPHA:1839
Bartsocas-Papas Syndrome 2
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand OMIM:619339
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Agenesis of cor... ORPHA:264200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Keratitis, Esophageal neoplasm,... ORPHA:1018
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Microcephaly, Aqueductal stenosis, Humeroradial synostos... OMIM:251230
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand polydactyly, Fo... OMIM:258860
Cerebrocostomandibular Syndrome
Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Myelomeningocele, Porencepha... ORPHA:1393
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly ORPHA:858
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... ORPHA:88630
Trisomy 18
Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, Anencephaly, Apl... ORPHA:3380
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... ORPHA:63259
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand ORPHA:2547
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Skin erosion, Corneal erosion, Esophageal stricture, Dysphagia... ORPHA:89842
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C... ORPHA:60040
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Microcephaly OMIM:610756
Bresek Syndrome
Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Microphthalmia ORPHA:85284
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis... ORPHA:3412
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... OMIM:614833
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Boomerang Dysplasia