Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
keratin 16
Synonyms:
Krt1-16,  K16

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Krt16 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 Krt16 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Krt16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:146750
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ulerythema Ophryogenesis
Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hype... ORPHA:3406
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, Excessive skin wrinkling on ... ORPHA:498359
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial edema OMIM:155900
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Failure to thrive, Oral mucosal blisters, Palmoplantar hyperkeratosis, Hyperkeratosis, Pruritus ORPHA:89838
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:615522
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal oral mu... ORPHA:79147
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Ichthyosis, Skin ulcer, Palmoplantar keratoderma, Weight loss, Erythroderma, Cong... ORPHA:312
Acquired Ichthyosis
Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar... ORPHA:454
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis, Carious teeth ORPHA:69125
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Oral mucosal blisters, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi... ORPHA:79399
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus ORPHA:2337
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis OMIM:617571
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... ORPHA:64745
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, ... OMIM:615024
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis OMIM:617525
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis OMIM:212360
Classic Mycosis Fungoides
Skin rash, Eczema, Erythema, Dry skin, Hyperkeratosis, Pruritus, Edema, Skin ulcer ORPHA:2584
Lipoid Proteinosis
High palate, Pustule, Abnormal oral mucosa morphology, Tongue nodules, Hyperkeratosis, Acne, Micr... ORPHA:530
Chilblain Lupus
Discoid lupus rash, Pruritis on hand, Inflammatory abnormality of the skin, Skin rash, Hyperkerat... ORPHA:90280
Bazex Syndrome
Acanthosis nigricans, Hyperkeratosis, Scaling skin, Edema, Pruritus, Palmoplantar keratoderma, Li... ORPHA:166113
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
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
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma OMIM:613000
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tooth agenesis, Erythema, Gingival recession, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar ... OMIM:615821
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Keratoderma Hereditarium Mutilans With Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parakeratosis, Palmoplantar hyp... ORPHA:79395
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Lamellar Ichthyosis
Everted lower lip vermilion, Abnormality of the dentition, Lack of skin elasticity, Dehydration, ... ORPHA:313
Hartnup Disorder
Glossitis, Episodic ataxia OMIM:234500
Erythrokeratodermia Variabilis
Skin rash, Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Weight loss ORPHA:317
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate ORPHA:141152
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis, Pyoderma gangrenosum OMIM:619986
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema, Thickened skin ORPHA:31112
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Eclabion, Dry skin, Generalized hyperkeratosis, Scaling skin, Unsteady gait, Generali... ORPHA:2269
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Ichthyosis, Congenital, Autosomal Recessive 6
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Dry skin, Hyperkeratosis, Scali... OMIM:612281
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Dehydration, Skin ulcer, Weight loss ORPHA:33355
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Ramon Syndrome
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Hyperkeratosi... ORPHA:3019
Catel-Manzke Syndrome
Glossoptosis, Failure to thrive, Oral synechia, Cleft palate ORPHA:1388
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Hypodontia, Abnormality of the dentition, Erythema, Carious teeth, Abn... ORPHA:659
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Ataxia, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma OMIM:609180
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Pruritus, Follicular hyperkeratosis ORPHA:79100
Juvenile Hyaline Fibromatosis
Skin ulcer, Gingival overgrowth, Gingival fibromatosis, Death in infancy ORPHA:2028
Pityriasis Rubra Pilaris
Pustule, Abnormal oral cavity morphology, Eczema, Subungual hyperkeratosis, Ichthyosis, Pruritus,... ORPHA:2897
Psoriasis 2
Hyperkeratosis, Parakeratosis, Scaling skin, Psoriasiform dermatitis OMIM:602723
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology, Hyperkeratosis, Pruritus ORPHA:254478
Solar Urticaria
Angioedema, Edema, Pruritus, Abnormal tongue morphology, Periorbital edema, Abnormal lip morphology ORPHA:97230
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Epilepsy, Progressive Myoclonic, 9
Microglossia, Gait ataxia OMIM:616540
Vulvovaginal Gingival Syndrome
Erythema, Gingivitis, Pruritus, Oral ulcer, Parakeratosis ORPHA:83453
Lichen Planopilaris
Neoplasm of the oral cavity, Hyperkeratosis, Pruritus, Skin ulcer, Abnormal intestine morphology ORPHA:525
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Sjögren-Larsson Syndrome
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Abnormal dental enamel morphology ORPHA:816
Dracunculiasis
Skin ulcer, Pruritus, Skin rash, Recurrent cutaneous abscess formation ORPHA:231
Epidermolytic Palmoplantar Keratoderma
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Epiderma... ORPHA:2199
Psoriasis 14, Pustular
Parakeratosis, Pustule, Erythema, Furrowed tongue, Geographic tongue, Psoriasiform dermatitis OMIM:614204
Bathing Suit Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Eclabion, Palmoplantar hyperkeratosis, Ichthyos... ORPHA:100976
Flynn-Aird Syndrome
Ataxia, Hyperkeratosis, Carious teeth OMIM:136300
Acquired Hypertrichosis Lanuginosa
Macroglossia, Acanthosis nigricans, Glossitis, Ichthyosis, Weight loss, Thickened skin ORPHA:2221
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyhydramnios, Lymphedema, Hype... OMIM:620014
Olmsted Syndrome 2
Cheilitis, Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmop... OMIM:619208
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Eclabion, Erythema, Hyperkeratosis, Ichthyosis,... OMIM:606545
Free Sialic Acid Storage Disease
Ataxia, Hydrops fetalis, Athetosis, Gait disturbance, Skin ulcer, Ascites, Failure to thrive in i... ORPHA:834
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion,... OMIM:613576
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ... OMIM:614669
Chilblain Lupus 1
Skin ulcer, Chilblains OMIM:610448
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... ORPHA:90186
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tip-toe gait, Tongue atrophy ORPHA:496689
Ichthyosis, Congenital, Autosomal Recessive 9
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Eclabion, Hyperkeratosis, Eryth... OMIM:615023
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hyperkeratosis, Hypodontia OMIM:616029
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Cleft palate, Ichthyosis ORPHA:494
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Failure to thrive, Ataxia, Dysmetria, Cleft palate, Glossoptosis, Dysdiadochokinesis OMIM:618356
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Hyperkeratosis, Scaling skin, Pruritus, Parakeratosis ORPHA:90368
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Dysmetria, Acanthosis nigricans, Xerostomia, Dry skin, Hyperkeratosis, Ichthyosis, Parake... OMIM:618527
Gaucher Disease, Perinatal Lethal
Narrow mouth, Petechiae, Akinesia, Decreased body weight, Congenital nonbullous ichthyosiform ery... OMIM:608013
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin ORPHA:461
Hemifacial Atrophy, Progressive
Dental malocclusion, Ataxia, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy OMIM:141300
Acrodermatitis Enteropathica
Failure to thrive, Abnormality of the tongue, Malabsorption, Cheilitis, Pustule, Erythema, Dry sk... ORPHA:37
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Dry skin, Follicular hyperkeratosis OMIM:617066
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Erythema, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Moynahan Syndrome
Cachexia, Hyperkeratosis ORPHA:2574
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, ... OMIM:602540
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion, Palmoplantar hyper... OMIM:242300
Noonan Syndrome 8
Failure to thrive, Palmoplantar cutis laxa, Eczema, Large for gestational age, Polyhydramnios, Hy... OMIM:615355
Cardiofaciocutaneous Syndrome 3
Wide mouth, Webbed neck, Hyperkeratosis, Failure to thrive OMIM:615279
Costello Syndrome
Narrow palate, Macroglossia, Abnormality of the dentition, Lack of skin elasticity, Redundant ski... ORPHA:3071
Harlequin Ichthyosis
Eclabion, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Congenital ichthyosiform erythro... ORPHA:457
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Inability to walk, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers, Steppage ... ORPHA:36386
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth, Neonatal death, Small for gestational age OMIM:227270
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Cutis laxa, Eczema, Dry skin, Hyperkeratosis, Ichthyosis OMIM:612379
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... OMIM:601952
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Conical tooth OMIM:618625
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Tongue atrophy OMIM:613435
Peeling Skin Syndrome 4
Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma OMIM:607936
Hereditary Acrokeratotic Poikiloderma
Narrow mouth, Pustule, Open bite, Abnormality of the dentition, Eczema, Xerostomia, Premature los... ORPHA:2907
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Furrowed tongue, Truncal obesity ORPHA:2928
Prolidase Deficiency
Erythema, Dry skin, Carious teeth, Hyperkeratosis, Crusting erythematous dermatitis, Pruritus, Th... ORPHA:742
Myasthenic Syndrome, Congenital, 10
Waddling gait, Tongue atrophy OMIM:254300
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Tooth agenesis, Abnormality of the dentition, Eczema, Xerostomia, Dry skin, Hy... ORPHA:238468
Ectodermal Dysplasia-Skin Fragility Syndrome
Failure to thrive, Cheilitis, Anoperineal fistula, Recurrent skin infections, Abnormality of the ... ORPHA:158668
Irida Syndrome
Pallor, Abnormal intestine morphology, Hyperkeratosis, Ichthyosis ORPHA:209981
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration, Gait disturbance ORPHA:139578
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... ORPHA:353253
Ichthyosis, Congenital, Autosomal Recessive 5
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, White scaling skin, Erythroderm... OMIM:604777
Proteus Syndrome
Hyperkeratosis, Open mouth OMIM:176920
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Skin rash, Skin ulcer, Recurrent cutaneous abscess formation ORPHA:229717
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion, Erythema, Hyperker... OMIM:242100
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:300918
X-Linked Agammaglobulinemia
Failure to thrive, Malabsorption, Skin rash, Glossoptosis, Skin ulcer, Weight loss, Recurrent cut... ORPHA:47
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis, Scaling skin OMIM:616295
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Orthokeratosis, Hypodontia, Palmoplantar erythema, Plantar hyperkera... OMIM:257980
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin OMIM:614457
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Short philtrum, Acne inversa, Hyperkeratosis, Natal tooth OMIM:617337
Acrogeria
Excessive wrinkled skin, Skin ulcer, Thin skin ORPHA:2500
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Oligodontia OMIM:221810
Netherton Syndrome
Failure to thrive, Congenital nonbullous ichthyosiform erythroderma, Intestinal atresia, Hypernat... OMIM:256500
Flynn-Aird Syndrome
Skin ulcer, Cachexia, Ataxia, Carious teeth ORPHA:2047
Atypical Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Tongue atrophy ORPHA:216873
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Erythema, Hyperkeratosis, Pruritus, Skin ulcer, Abnormal lip morphology, Ab... ORPHA:1334
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Leishmaniasis
Abnormal oral cavity morphology, Pallor, Abnormal oral mucosa morphology, Skin ulcer, Weight loss ORPHA:507
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Dowling-Degos Disease
Acne inversa, Anal margin squamous cell carcinoma, Hyperkeratosis, Pruritus, Hyperkeratotic papul... ORPHA:79145
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Overweight, Dry skin, Follicular hyperkeratosis ORPHA:486815
Pachyonychia Congenita 3
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Gingivitis, Furrowed to... OMIM:615726
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Hyperkeratosis, Furrowed tongue ORPHA:1839
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura, Thin skin ORPHA:743
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis OMIM:604117
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Dry skin, Inflammation of the large intestine, Enamel hypoplasia, Hyperkeratos... OMIM:614576
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Chromomycosis
Predominantly lower limb lymphedema, Abnormal oral cavity morphology, Hyperparakeratosis, Lymphed... ORPHA:182
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Psoriasiform lesion, Superficial dermal perivascular inflammatory infiltrate, Scaling sk... ORPHA:284426
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Hyperkeratosis, De... OMIM:610768
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Parakeratosis, Pruritus, Erythema migrans ORPHA:158681
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Hypodontia, Oligodontia, Dry skin, Enamel hypoplasia, Ichthyosis, Parakeratosis OMIM:607626
Leopard Syndrome 3
Epidermal hyperkeratosis, Webbed neck, Hyperkeratosis, Dry skin OMIM:613707
Reynolds Syndrome
Abnormal gastric mucosa morphology, Skin rash, Sclerodactyly, Xerostomia, Pruritus, Skin ulcer, A... ORPHA:779
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Pachyonychia Congenita
Failure to thrive, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural are... ORPHA:2309
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis OMIM:618546
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Parakeratosis OMIM:148500
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Failure to thrive, Cleft palate, Tongue no... OMIM:277170
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Long philtrum, Whistling appearance, Microglossia OMIM:277720
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis... OMIM:148700
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, Recurrent bacterial skin infections, Anal canal squamous carcinoma, Atopic dermatitis ORPHA:217390
Prolidase Deficiency
High palate, Failure to thrive, Petechiae, Eczema, Crusting erythematous dermatitis, Skin ulcer OMIM:170100
Pityriasis Rubra Pilaris
Orthokeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Cronkhite-Canada Syndrome
Malabsorption, Stomach cancer, Cachexia, Furrowed tongue, Intestinal polyposis, Colon cancer, Lym... ORPHA:2930
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Skin rash, Abnormality of the dentition, Eczema, Delayed eruption of teeth, Gingivi... ORPHA:2314
Infantile Systemic Hyalinosis
Failure to thrive, Gingival overgrowth, Malabsorption, Steatorrhea, Lymphedema, Skin ulcer, Abnor... ORPHA:2176
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Difficulty walking, Protruding tongue, Macroglossia OMIM:227250
Popov-Chang syndrome
Failure to thrive, Long philtrum, Dry skin, Hyperkeratosis, Thick vermilion border, Thin upper li... OMIM:618428
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Polyhydramnios, Pruritus, Erythroderma, Generalized ichthyosis OMIM:608649
Spinocerebellar Ataxia 34
Ataxia, Limb ataxia, Epidermal hyperkeratosis, Dysdiadochokinesis, Gait ataxia, Erythroderma OMIM:133190
Brooke-Spiegler Syndrome
Skin ulcer, Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the sub... ORPHA:79493
Plummer-Vinson Syndrome
Narrow mouth, Cheilitis, Esophageal web, Pallor, Intra-oral hyperpigmentation, Glossitis, Tongue ... ORPHA:54028
Necrobiosis Lipoidica
Skin ulcer, Inflammatory abnormality of the skin, Erythema ORPHA:542592
Trichothiodystrophy 1, Photosensitive
Malabsorption, Congenital nonbullous ichthyosiform erythroderma, Triangular mouth, Small for gest... OMIM:601675
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Tooth malposition, Everted lower lip vermilion, Short philtrum, Furrowed tongue ORPHA:1387
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ... OMIM:615508
Lymphatic Malformation 4
Lymphedema, Hyperkeratosis OMIM:615907
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma, Pruritus, Conical primary incisor OMIM:602400
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth OMIM:618732
Olmsted Syndrome 1
Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis, Pruritus OMIM:614594
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Pyoderma gangrenosum, Acne OMIM:604416
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Anterior open-bite malocclusion, M... OMIM:602483
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Dry skin, Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma OMIM:308800
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Juvenile Idiopathic Arthritis
Joint swelling, Malabsorption, Skin rash, Generalized hyperkeratosis, Pericardial effusion, Psori... ORPHA:92
Familial Benign Chronic Pemphigus
Skin vesicle, Acantholysis, Hyperkeratosis, Erythema ORPHA:2841
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin, Macroglossia, Furrowed tongue, Edema, Periorbita... ORPHA:2483
Mednik Syndrome
Abnormal intestine morphology, Hyperkeratosis, Ichthyosis ORPHA:171851
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Pruritus OMIM:618084
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Buerger Disease
Skin ulcer ORPHA:36258
Donohue Syndrome
Wide mouth, Gingival overgrowth, Severe failure to thrive, Acanthosis nigricans, Hyperkeratosis, ... OMIM:246200
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Abnormal stomach morphology ORPHA:281090
Spinocerebellar Ataxia 36
Ataxia, Limb ataxia, Truncal ataxia, Gait ataxia, Tongue atrophy, Tongue fasciculations OMIM:614153
Spinocerebellar Ataxia Type 36
Ataxia, Limb ataxia, Dysmetria, Truncal ataxia, Difficulty walking, Tongue atrophy, Tongue fascic... ORPHA:276198
Kid Syndrome
Lip fissure, Recurrent bacterial skin infections, Failure to thrive, Folliculitis, Recurrent cuta... ORPHA:477
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma OMIM:104100
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Pustule, Skin rash, Stomatitis, Hyperkeratosis, Failure to thrive in infancy OMIM:612852
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Failure to thrive, Skin rash, Glossitis, Stomatitis, Thin upper lip vermilion, Lethargy OMIM:277380
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Short philtrum, Hyperkeratosis, Death in infancy ORPHA:163966
Sialidosis Type 1
Gait disturbance, Ataxia, Hyperkeratosis, Thick lower lip vermilion ORPHA:812
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Follicular hyperkeratosis OMIM:262020
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Oral leukoplakia, Follicular hyperkeratosis OMIM:167200
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Cardiofaciocutaneous Syndrome
High palate, Excessive wrinkled skin, Redundant skin, Long philtrum, Dry skin, Lymphedema, Hyperk... ORPHA:1340
Bazex Syndrome
Furrowed tongue, Eczema, Atopic dermatitis, Acne inversa OMIM:301845
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Microdontia, Furrowed tongue, Hyperkeratosis, Ichthyosis, Or... OMIM:148210
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Hidrotic Ectodermal Dysplasia
Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratotic papule, Cobblestone-like hy... ORPHA:189
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue, Webbed neck, Oligohydramnios ORPHA:2167
Pallister-Hall-Like Syndrome
Median cleft lip, Microglossia, Death in infancy, Cleft palate OMIM:241800
Mulibrey Nanism
Dental malocclusion, Hypodontia, Hydrops fetalis, Enamel hypoplasia, Dental crowding, Microglossi... OMIM:253250
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Failure to thrive, Open bite, Abnormality of the dentition, Ato... OMIM:115150
Mandibuloacral Dysplasia
High palate, Dental crowding, Acanthosis nigricans, Thin skin, Abnormal tongue morphology, Hypopl... ORPHA:2457
Lelis Syndrome
Hypodontia, Acanthosis nigricans, Palmoplantar hyperkeratosis, Carious teeth, Furrowed tongue ORPHA:140936
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Hyperkeratosis ORPHA:79279
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Abnormality of the dentition, Oligodontia ORPHA:1657
Polyarteritis Nodosa
Skin ulcer, Weight loss, Erythema ORPHA:767
Pyoderma Gangrenosum
Skin ulcer, Skin vesicle, Pustule, Inflammation of the large intestine ORPHA:48104
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Difficulty walking, Tongue atrophy OMIM:601596
Adult Polyglucosan Body Disease
Skin ulcer, Ataxia, Gait disturbance ORPHA:206583
Werner Syndrome
Slender build, Miscarriage, Lack of skin elasticity, Neoplasm of the oral cavity, Hyperkeratosis,... ORPHA:902
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Abnormality of the dentition, Hyperkeratosis ORPHA:1806
Monilethrix
Abnormality of the dentition, Follicular hyperkeratosis ORPHA:573
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Anal canal squamous cell carcinoma, Intestinal bleeding, Rectal prolapse,... ORPHA:424019
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Pyoderma gangrenosum, Recurrent skin infections OMIM:616576
Poikiloderma With Neutropenia
Skin rash, Plantar hyperkeratosis, Long philtrum, Carious teeth, Hyperkeratosis, Edema, Palmoplan... OMIM:604173
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Autosomal Dominant Cerebellar Ataxia
Akinesia, Progressive cerebellar ataxia, Erythema, Gait disturbance, Choreoathetosis, Hyperkerato... ORPHA:99
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Long philtrum, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Seckel Syndrome 2
Microglossia, Microdontia, Small for gestational age OMIM:606744
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Hyperkeratosis, Delayed eruption of teeth OMIM:601812
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Skin ulcer, Pustule, Acne ORPHA:69126
Autosomal Dominant Severe Congenital Neutropenia
Premature loss of teeth, Periodontitis, Recurrent skin infections, Gingivitis, Recurrent aphthous... ORPHA:486
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Skin rash, Cleft palate, Stomatitis, Glossitis, Lethargy ORPHA:79284
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Milroy Disease
Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Pedal edema, Hyperkeratosis ORPHA:79452
Hartnup Disease
Malabsorption, Ataxia, Skin rash, Glossitis, Gingivitis ORPHA:2116
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... ORPHA:137888
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Carious teeth ORPHA:1883
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Wide mouth, Ataxia, Broad-based gait, Widely spaced teeth, Protruding tongue, Obe... ORPHA:411511
Rare Cutaneous Lupus Erythematosus
Discoid lupus rash, Cheilitis, Deep dermal perivascular inflammatory infiltrate, Facial edema, Pu... ORPHA:535
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the t... ORPHA:2759
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Failure to thrive, Cleft palate, Thin vermilion border, Death in child... OMIM:612938
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Abnormality of the dentition, Microdonti... ORPHA:870
Bone Marrow Failure Syndrome 3
Failure to thrive, Hypodontia, Eczema, Microdontia, Enamel hypoplasia, Hyperkeratosis, Amelogenes... OMIM:617052
Takayasu Arteritis
Skin ulcer, Weight loss ORPHA:3287
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short philtrum, Bifid tongue, Short lingual frenulum, Abnormal pala... ORPHA:3241
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Pyoderma gangrenosum, Recurrent aphthous stomatitis OMIM:150550
Infantile Myofibromatosis
Tracheoesophageal fistula, Gingival fibromatosis, Intestinal obstruction, Skin ulcer, Abnormal in... ORPHA:2591
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Ring Chromosome 22 Syndrome
Lymphedema, Protruding tongue, Gait ataxia, Pleural effusion, Edema, Thick vermilion border ORPHA:1446
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Cleft palate, Oligodontia, Dry skin, Oral cleft, Hyperkeratosis, Abnormal dental... OMIM:601701
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Attenuated Chédiak-Higashi Syndrome
Skin ulcer, Gingival bleeding ORPHA:352723
Neonatal Lupus Erythematosus
Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash, Parakeratosis ORPHA:398124
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Dry skin, Follicular hyperkeratosis, Scaling skin, Erythroderma, Oligohydramnios, A... OMIM:308205
Hereditary Folate Malabsorption
Pallor, Glossitis, Cheilitis, Failure to thrive ORPHA:90045
Chime Syndrome
Supernumerary tooth, Hypodontia, Cleft palate, Abnormality of the dentition, Short philtrum, Eryt... ORPHA:3474
Malakoplakia
Neoplasm of the rectum, Neoplasm of the colon, Abnormality of the tongue, Inflammatory abnormalit... ORPHA:556
Ollier Disease
Skin ulcer ORPHA:296
Porokeratosis
Hyperkeratosis, Pruritus ORPHA:79358
Agel Amyloidosis
Ataxia, Cutis laxa, Xerostomia, Dry skin, Pruritus, Tongue atrophy, Edema, Blepharochalasis ORPHA:85448
Ullrich Congenital Muscular Dystrophy 1
High palate, Failure to thrive, Slender build, Follicular hyperkeratosis OMIM:254090
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Marshall-Smith Syndrome
Failure to thrive, Gingival overgrowth, Protruding tongue, Thin skin, Open mouth ORPHA:561
Chronic Granulomatous Disease
Malabsorption, Tracheoesophageal fistula, Eczema, Pyloric stenosis, Gingivitis, Skin ulcer ORPHA:379
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Failure to thrive, Decreased body weight, Diastema, Furrowed tongue, Shuffling gait,... OMIM:300534
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Charcot-Marie-Tooth Disease Type 4B2
Inability to walk, Tip-toe gait, Difficulty walking, Difficulty in tongue movements, Tongue atrop... ORPHA:99956
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Glossoptosis, High, narrow palate, Hypodontia, Submucous cleft hard palate ORPHA:3201
Adult Syndrome
Abnormality of the dentition, Dry skin, Thin skin, Skin ulcer, Abnormality of dental morphology ORPHA:978
Incontinentia Pigmenti
Hypodontia, Skin rash, Erythema, Delayed eruption of teeth, Oral cleft, Gait disturbance, Hyperke... ORPHA:464
Pgm3-Cdg
High palate, Failure to thrive, Ataxia, Recurrent skin infections, Eczema, Atopic dermatitis, Eso... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Gingival overgrowth, Failure to thrive, Everted lower lip vermilion, Thin vermilion b... OMIM:212066
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... OMIM:174300
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis, Palpebral edema, Nonimmune hydrops fetalis, Dermal translucency, Lymphe... OMIM:137940
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Falls, Protruding tongue, Thick vermilion border, Submu... OMIM:618106
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Lobulated tongue, Hamartoma of tongue, Tongue... OMIM:258860
Giant Cell Arteritis
Skin ulcer, Glossitis, Ataxia, Weight loss ORPHA:397
Developmental And Epileptic Encephalopathy 80
High palate, Wide mouth, Failure to thrive, Long philtrum, Protruding tongue, Tented upper lip ve... OMIM:618580
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis OMIM:617388
Familial Multiple Nevi Flammei
Skin ulcer, Edema ORPHA:624
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Noonan Syndrome 10
High palate, Palmoplantar cutis laxa, Hyperkeratosis, Pleural effusion, Webbed neck, Increased nu... OMIM:616564
Calciphylaxis
Skin ulcer, Abnormality of skin physiology ORPHA:280062
Angelman Syndrome
Broad-based gait, Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Progressive g... OMIM:105830
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Difficulty walking, Downturned corners of mouth ORPHA:531151
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Dental crowding, Delayed eruption of pri... OMIM:616367
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip v... ORPHA:364577
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Wide mouth, Gait imbalance, Widely spaced teeth, Protruding tongue ORPHA:98795
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Premature loss of primary teeth, Er... ORPHA:2908
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
High palate, Failure to thrive, Eczema, Large for gestational age, Polyhydramnios, Hyperkeratosis... OMIM:607721
Xeroderma Pigmentosum
Failure to thrive, Ataxia, Abnormality of the dentition, Erythema, Dry skin, Hyperkeratosis, Thin... ORPHA:910
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Orthokeratosis, Congenital ichthyosiform erythroderma, Erythema, Hyperkeratosis,... OMIM:308050
Mcdonough Syndrome
Dental malocclusion, Short philtrum, Furrowed tongue OMIM:248950
Congenital Sialidosis Type 2
Gingival overgrowth, Petechiae, Ataxia, Dysmetria, Protruding tongue, Edema, Ascites ORPHA:93400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Cachexia, Xerostomia, Glossitis, Protein-losing enteropathy, Hamartomatous polyposis OMIM:175500
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid uvula, Polyhydramnios, Death ... ORPHA:1790
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Open mouth, Hypoplasia o... OMIM:200990
Agnathia-Otocephaly Complex
Narrow mouth, Cleft palate, Polyhydramnios, Aglossia, Microglossia OMIM:202650
Orofaciodigital Syndrome Type 6
High palate, Failure to thrive, Ataxia, Cleft palate, Lobulated tongue, Hamartoma of tongue, Midl... ORPHA:2754
Gm1-Gangliosidosis, Type Ii
Failure to thrive, Gingival overgrowth, Narrow mouth, Ataxia, Gait disturbance, Protruding tongue OMIM:230600
Kanzaki Disease
Dry skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema, Hyperkeratosis, Thic... OMIM:609242
Beta-Thalassemia
Skin ulcer, Pallor ORPHA:848
Imerslund-Gräsbeck Syndrome
Failure to thrive, Pallor, Glossitis, Angular cheilitis, Weight loss ORPHA:35858
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Wide mouth, Ataxia, Broad-based gait, Widely spaced teeth, Protruding tongue, Obe... ORPHA:98794
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Macroglossia, Long philtrum, Protruding tongue, Dental crowding, Obesity, Webbed neck OMIM:141750
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Tarp Syndrome
High palate, Failure to thrive, Cleft palate, Glossoptosis, Tongue nodules OMIM:311900
Chand Syndrome
Agenesis of maxillary incisor, Ataxia, Cleft palate, Agenesis of permanent teeth, Bifid tongue, D... ORPHA:1401
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia, Dysmetria, Ataxia OMIM:619352
X-Linked Dystonia-Parkinsonism
Shuffling gait, Difficulty walking, Protruding tongue, Bradykinesia ORPHA:53351
Systemic Sclerosis
Joint swelling, Narrow mouth, Intestinal bleeding, Abnormal stomach morphology, Barrett esophagus... ORPHA:90291
Leukocyte Adhesion Deficiency Type Ii
Premature loss of teeth, Gingival overgrowth, Narrow palate, Ataxia, Long upper lip, Failure to t... ORPHA:99843
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss ORPHA:86884
Hajdu-Cheney Syndrome
Failure to thrive, Periodontitis, Narrow mouth, Cleft palate, Open bite, Thin vermilion border, A... ORPHA:955
Trisomy 8Q
High palate, Cleft palate, Everted lower lip vermilion, Bifid tongue, Oral cleft, Abnormal oral f... ORPHA:1752
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Malabsorption, Xerostomia, Carious teeth ORPHA:220393
Catel-Manzke Syndrome
High palate, Glossoptosis, Cleft palate, Cleft upper lip OMIM:616145
Incontinentia Pigmenti
Hypodontia, Pallor, Maculopapular exanthema, Oligodontia, Erythema, Delayed eruption of teeth, Hy... OMIM:308300
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Gingivitis, Chronic mucocutaneous candidiasis, Rectal abscess, Skin ulcer OMIM:116920
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... ORPHA:1358
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Failure to thrive, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligod... OMIM:608670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Malabsorption, Protruding tongue, Macroglossia OMIM:242860
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Everted lower lip vermilion, Protruding tongue, Smooth philtrum, Steppage gait ORPHA:324410
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Hyperkeratosis, Abnormal dental enamel morphology ORPHA:1005
Cowden Syndrome 5
High palate, Narrow mouth, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic diverticula, Ham... OMIM:615108
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Acne inversa, Erythema, Pyoderma gangrenosum OMIM:608068
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Exaggerated median tongue furrow ORPHA:313892
Fucosidosis
Abnormality of the dentition, Failure to thrive, Generalized hyperkeratosis ORPHA:349
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue, Dry skin OMIM:618797
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Open mouth, Sk... ORPHA:534
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Long philtrum, Dry skin, Erysipelas, Lymphedema, Scaling skin, Edema, Pleural effusi... ORPHA:2526
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Juvenile Dermatomyositis
Skin rash, Palpebral edema, Erythema, Dry skin, Pruritus, Skin ulcer, Weight loss ORPHA:93672
Tyrosinemia Type 2
Palmoplantar keratoderma, Ataxia, Hyperkeratosis ORPHA:28378
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Bifid tongue, Lo... OMIM:252100
Hereditary Spherocytosis
Skin ulcer, Maculopapular exanthema, Ataxia, Pallor ORPHA:822
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Bethlem Myopathy
Gait disturbance, Difficulty walking, Hyperkeratosis, Waddling gait ORPHA:610
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Oral mucosal blisters, Recurrent skin infections, Erythema, Enamel hypoplasia,... ORPHA:79396
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Skin rash ORPHA:49566
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Skin rash, Eczema, Aphthous ulcer, Purpura, Esophageal varix, Oral ulcer, Skin ulcer, Ery... OMIM:615688
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Ataxia, Tongue atrophy OMIM:211530
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Failure to thrive, Enamel hypoplasia, Bilateral cleft lip and palate, Ankyloglossia,... OMIM:618874
Cushing Disease
Abdominal obesity, Recurrent cutaneous fungal infections, Intra-oral hyperpigmentation, Truncal o... ORPHA:96253
Livedoid Vasculopathy
Recurrent skin infections, Macular purpura, Pedal edema, Superficial dermal perivascular inflamma... ORPHA:542643
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Failure to thrive in infancy, Hyperkeratosis OMIM:301220
Reactive Arthritis
Joint swelling, Pustule, Inflammation of the large intestine, Hyperkeratosis, Recurrent aphthous ... ORPHA:29207
Dyskeratosis Congenita
Malabsorption, Periodontitis, Taurodontia, Hypodontia, Abnormality of the dentition, Tracheoesoph... ORPHA:1775
Cowden Syndrome 6
High palate, Narrow mouth, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic diverticula, Ham... OMIM:615109
Cohen Syndrome
Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the tongue, High, narrow palate, Abnor... ORPHA:193
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Ataxia, Pustule, Abnormality of taste sensation, Skin ulcer, Cerebral ede... ORPHA:68
Juvenile Sialidosis Type 2
Loss of ambulation, Gingival overgrowth, Ataxia, Dysmetria, Protruding tongue ORPHA:93399
Orofaciodigital Syndrome Type 1
High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Ataxia, Hypodontia, Clef... ORPHA:2750
Eec Syndrome
Tooth agenesis, Taurodontia, Cleft palate, Xerostomia, Microdontia, Dry skin, Carious teeth, Oral... ORPHA:1896
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Limb ataxia, Gait ataxia, Unsteady gait, Tongue atrophy, Steppage gait ORPHA:101085
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Polyhydramnios, Bifid uvula, Cleft palate ORPHA:1427
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Cryoglobulinemic Vasculitis
Skin ulcer, Purpura, Petechiae ORPHA:91138
Noonan Syndrome 2
High palate, Palmoplantar cutis laxa, Polyhydramnios, Hyperkeratosis, Increased nuchal translucency OMIM:605275
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Everted lower lip vermi... OMIM:610253
Cowden Syndrome 1
High palate, Narrow mouth, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Colonic d... OMIM:158350
Alacrima, Achalasia, And Mental Retardation Syndrome
Ataxia, Short philtrum, Downturned corners of mouth, Hyperkeratosis, Esophageal stenosis OMIM:615510
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Orthokeratosis, Stomach cancer, Adenocarcinoma of the colon, Palmoplantar hy... ORPHA:79501
Ramos-Arroyo Syndrome
Narrow mouth, Decreased body weight, Severe failure to thrive, Xerostomia, Long philtrum, Carious... ORPHA:1051
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Cleft palate, Microdontia, Microglossia ORPHA:1307
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... ORPHA:2752
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Glossoptosis, Carious teeth ORPHA:93346
Rabson-Mendenhall Syndrome
High palate, Gingival overgrowth, Macroglossia, Abnormality of the dentition, Acanthosis nigrican... ORPHA:769
Pitt-Hopkins-Like Syndrome 2
Broad-based gait, Wide mouth, Protruding tongue OMIM:614325
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Ascites OMIM:602361
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Failure to thrive, Cleft palate, Macroglossia, Oligodontia, Bifid uvula, Downturned ... ORPHA:453499
Dominant Beta-Thalassemia
Skin ulcer, Abnormality of the dentition, Pallor, Failure to thrive in infancy ORPHA:231226
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Toxic Epidermal Necrolysis
Malabsorption, Tracheoesophageal fistula, Erythema, Acantholysis, Weight loss, Skin ulcer, Intest... ORPHA:537
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Neonatal death, Lobulated tongue, Hamartoma of tongue, Polyhydramnios, Me... OMIM:269860
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema, Hyperkeratosis, Thick vermilio... ORPHA:79280
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Failure to thrive, Loss of ambulation, High, narrow palate, Macroglossia, Death in c... OMIM:214100
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate ORPHA:2001
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
6Q Terminal Deletion Syndrome
Failure to thrive, High, narrow palate, Dysmetria, Gait ataxia, Hyperkeratosis, Thick vermilion b... ORPHA:75857
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Supernumerary tooth, Cleft palate, Agene... OMIM:311200
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Microdontia, Neonatal d... OMIM:259775
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Agenesis of permanent t... OMIM:616894
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Myopathy, Myofibrillar, 7
Difficulty walking, Tongue atrophy OMIM:617114
Moebius Syndrome
High palate, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Cleft palate, Everted lower lip ve... ORPHA:570
Stuve-Wiedemann Syndrome 1
Pursed lips, Thin vermilion border, Carious teeth, Smooth tongue, Thin skin, Death in infancy, Pr... OMIM:601559
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Polyhydramnios, Narrow mouth ORPHA:990
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Short philtrum, Oral cl... ORPHA:958
Charcot-Marie-Tooth Disease Type 4C
Failure to thrive, Inability to walk, Difficulty walking, Difficulty in tongue movements, Gait at... ORPHA:99949
Autosomal Recessive Robinow Syndrome
Ectopic anus, Wide mouth, Gingival overgrowth, Supernumerary tooth, Hypodontia, Open bite, Abnorm... ORPHA:1507
Ramon Syndrome
Decreased body weight, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Hyperkera... OMIM:266270
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Hypodont... ORPHA:989
Beta-Thalassemia Major
Skin ulcer, Abnormality of the dentition, Pallor, Failure to thrive in infancy ORPHA:231214
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Macroglossia, Everted lower lip vermilion, Downturned corners of mouth, Protru... ORPHA:96147
Immunoglobulin A Vasculitis
Pustule, Skin rash, Erythema, Angioedema, Purpura, Edema, Skin ulcer ORPHA:761
Restrictive Dermopathy 1
Narrow mouth, Neonatal death, Polyhydramnios, Scaling skin, Natal tooth, Thin skin, Epidermal hyp... OMIM:275210
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, High, narrow palate, Cleft palate, Everted lower lip vermilion, Short philtrum... ORPHA:464738
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Sweet Syndrome
Pustule, Acne inversa, Inflammation of the large intestine, Acne, Skin vesicle, Pyoderma gangreno... ORPHA:3243
Granulomatosis With Polyangiitis
Skin ulcer, Weight loss, Oral ulcer OMIM:608710
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cutis laxa, Follicular hyperkeratosis, Polyhydramnios, Waddling gait, Cleft soft palate OMIM:614557
Hermansky-Pudlak Syndrome
Malabsorption, Hyperkeratosis, Weight loss, Abnormal dental enamel morphology, Thickened skin ORPHA:79430
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnormality of t... ORPHA:1452
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Sclerodactyly, Orthokeratotic hyperkeratosis, Premature loss of permane... OMIM:610644
Cowden Syndrome
High palate, Failure to thrive, Ataxia, Macroglossia, Furrowed tongue, Colorectal polyposis, Gene... ORPHA:201
Microscopic Polyangiitis
Skin ulcer, Erythema, Skin rash ORPHA:727
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Tooth agenesis, Inability to walk, High, narrow palate, Cleft palate, Open b... ORPHA:453504
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Tooth agenesis, Inability to walk, High, narrow palate, Cleft palate, Open b... ORPHA:352665
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Narrow mouth, Decreased body weight, Recurrent skin infections, Abnormal esoph... ORPHA:89842
Tarp Syndrome
Alveolar ridge overgrowth, Broad-based gait, Failure to thrive, Cleft palate, Glossoptosis, Abnor... ORPHA:2886
Kinsship Syndrome
Wide mouth, Gingival overgrowth, Failure to thrive, Short philtrum, Downturned corners of mouth, ... OMIM:619297
Achondrogenesis, Type Ia
Hydrops fetalis, Polyhydramnios, Protruding tongue, Stillbirth, Increased nuchal translucency OMIM:200600
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta OMIM:245660
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Failure to thrive, Cleft ... ORPHA:861
Warburg-Cinotti Syndrome
High palate, Joint swelling, Gingival overgrowth, Erythema, Follicular hyperkeratosis, Thin skin,... OMIM:618175
Dermatomyositis
Gastrointestinal stroma tumor, Erythema, Dry skin, Pruritus, Periorbital edema, Skin ulcer, Edema... ORPHA:221
Chronic Graft Versus Host Disease
Morphea, Xerostomia, Abnormal esophagus morphology, Erythema, Esophageal stricture, Esophageal ul... ORPHA:99921
Naxos Disease
Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Hyperkeratosis, Palm... OMIM:601214
Glucagonoma
Skin rash, Steatorrhea, Intestinal obstruction, Stomatitis, Glossitis, Pruritus, Necrolytic migra... ORPHA:97280
Carey-Fineman-Ziter Syndrome 1
High palate, Failure to thrive, Cleft palate, Glossoptosis, Pierre-Robin sequence, Microglossia OMIM:254940
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Cutis laxa, Abnormality of the dentition, Thin skin, Anteriorly placed anus, M... OMIM:151050
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Ataxia, Dehydration, Hydrops fetalis, Stomatitis, Glossitis, Lethargy, Smooth ... ORPHA:79282
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Cleft palate OMIM:615065
Intellectual Developmental Disorder, Autosomal Dominant 29
High palate, Dental crowding, Narrow mouth, Narrow palate, Long philtrum, Open mouth, Thick vermi... OMIM:616078
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Inability to walk, Choreoathetosis, Protruding tongue, Gait ataxia OMIM:619580
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Cerebrocostomandibular Syndrome
High palate, Glossoptosis, Abnormality of the dentition, Short hard palate, Long philtrum, Polyhy... OMIM:117650
Catastrophic Antiphospholipid Syndrome
Skin ulcer, Miscarriage ORPHA:464343
Ritscher-Schinzel Syndrome 2
Short philtrum, Protruding tongue OMIM:300963
Plague
Enterocolitis, Skin rash, Dry skin, Inflammation of the large intestine, Glossitis, Edema, Unstea... ORPHA:707
Angelman Syndrome
Broad-based gait, Wide mouth, Ataxia, Inability to walk, Widely spaced teeth, Protruding tongue, ... ORPHA:72
Cerebrocostomandibular Syndrome
Cleft palate, Glossoptosis, Short hard palate, Death in infancy, Webbed neck ORPHA:1393
Blau Syndrome
Joint swelling, Skin rash, Xerostomia, Erythema, Dry skin, Abnormal salivary gland morphology, Ic... ORPHA:90340
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, Ataxia, Failure to thrive, High, narrow palate, Cleft palate, Tip-toe gait, Excessive... OMIM:619950
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cleft upper lip, Anal atresia, Cleft palate, Absence of Stensen duct, Oligodontia, Xerostomia, Mi... OMIM:129900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Failure to thrive, Dry skin, Hyperkeratosis, Oligohydramnios, Stillbirth OMIM:210710
Fontaine Progeroid Syndrome
Failure to thrive, Narrow mouth, High, narrow palate, Everted lower lip vermilion, Small for gest... OMIM:612289
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Narrow mouth, Protruding tongue, Thick vermilion border, Smooth philtrum OMIM:608779
Robinow Syndrome
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... ORPHA:97360
Otopalatodigital Syndrome Type 2
Anodontia, Narrow mouth, Failure to thrive, Cleft palate, Glossoptosis, Oligodontia, Pierre-Robin... ORPHA:90652
Granulomatosis With Polyangiitis
Abnormal oral cavity morphology, Skin rash, Intestinal obstruction, Purpura, Periorbital edema, S... ORPHA:900
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Contractures-Developmental Delay-Pierre Robin Syndrome
Glossoptosis, High, narrow palate, Cleft palate ORPHA:436003
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Penetrating foot ulcers OMIM:118301
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Decreased body weight, Macroglossia, Protruding tongue, Open mouth, Cerebral e... ORPHA:258
Leprechaunism
Failure to thrive, Decreased body weight, Acanthosis nigricans, Rectal prolapse, Hyperkeratosis, ... ORPHA:508
Hypoglossia-Hypodactylia
Microglossia, Narrow mouth, Aglossia OMIM:103300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Excessive wrinkled skin, Palmoplantar cutis laxa, Follicular hyperkeratosis, Thin skin, Dental cr... OMIM:225400
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Waddling gait, Cleft palate ORPHA:2839
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft palate, Bifid tongue, Lobulated tongue, Cleft lip, Natal tooth OMIM:616300
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Thin vermilion border, Lack of skin elasticity, Neoplas... ORPHA:79474
Blau Syndrome
Joint swelling, Cystoid macular edema, Eczema, Skin ulcer, Erythema nodosum OMIM:186580
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Recurrent cutaneous fungal infections, Intra-oral hyperpigmentation, Increased... ORPHA:99889
Icf Syndrome
Malabsorption, Protruding tongue, Macroglossia ORPHA:2268
Marshall-Smith Syndrome
High palate, Failure to thrive, Gingival overgrowth, Decreased body weight, Short mandibular rami... OMIM:602535
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Tip-toe gait, Atopic dermatitis, Gait disturbance, Difficulty walking, Tongue ... ORPHA:466768
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Waddling gait, Cleft palate ORPHA:94068
Mycetoma