Gene: Krt16 MGI:96690

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Krt16 (4 diseases)
Human diseases predicted to be associated with Krt16 (620 diseases)

The table below shows human diseases associated to Krt16 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Pachyonychia Congenita	Natal tooth, Failure to thrive, Oral leukoplakia, Palmoplantar keratoderma, Linear arrays of macu...	ORPHA:2309
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia	OMIM:167200

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

Disease	Matching phenotypes	Source
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormality of the dentition, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ...	ORPHA:3406
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmar pruritus, Exce...	ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Failure to thrive, Oral mucosal blisters, Palmoplantar hyperkeratosis, Pruritus, Hyperkeratosis	ORPHA:89838
Familial Reactive Perforating Collagenosis	Abnormal oral mucosa morphology, Hyperkeratotic papule, Inflammatory abnormality of the skin, Mac...	ORPHA:79147
Melkersson-Rosenthal Syndrome	Facial edema, Furrowed tongue	OMIM:155900
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Weight loss, Erythroderma, Hyperkeratosis, Cong...	ORPHA:312
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy...	ORPHA:454
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosis, Plantar hyperkeratosi...	ORPHA:79399
Diffuse Palmoplantar Keratoderma, Bothnian Type	Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer	ORPHA:2337
Anonychia With Flexural Pigmentation	Carious teeth, Follicular hyperkeratosis, Hyperkeratosis	ORPHA:69125
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei...	ORPHA:64745
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:311895
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Er...	OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis	ORPHA:79503
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h...	OMIM:620507
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Palmoplantar Keratoderma And Congenital Alopecia 2	Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur...	ORPHA:90280
Classic Mycosis Fungoides	Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkeratosis, Edema	ORPHA:2584
Lipoid Proteinosis	Abnormal oral mucosa morphology, Thickened skin, Microglossia, Thick lower lip vermilion, Pustule...	ORPHA:530
Bazex Syndrome	Palmoplantar keratoderma, Lip hyperpigmentation, Parakeratosis, Acanthosis nigricans, Scaling ski...	ORPHA:166113
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Tooth agenesis, Gingival recession, Ichthyosis, Parakeratosis...	OMIM:615821
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Dry skin, Death in infancy, Erythroderma, Scaling skin, Ataxia, Thin vermilion...	OMIM:609180
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Weight loss, Cleft palate	ORPHA:141152
Erythrokeratodermia Variabilis	Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Weight loss, Hyperkeratosis	ORPHA:317
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Unsteady ...	ORPHA:2269
Lamellar Ichthyosis	Abnormality of the dentition, Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Everte...	ORPHA:313
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge...	OMIM:612281
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Death in childhood, Scaling skin, Gingivitis, Hyperkeratosis, Con...	OMIM:614457
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess	OMIM:619986
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Dermatofibrosarcoma Protuberans	Thickened skin, Skin ulcer, Erythema	ORPHA:31112
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar h...	OMIM:616295
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema	ORPHA:79100
Ramon Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G...	ORPHA:3019
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Ichthyosis, Congenital, Autosomal Recessive 4B	Congenital ichthyosiform erythroderma, Failure to thrive, Death in infancy, Neonatal death, Evert...	OMIM:242500
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Juvenile Hyaline Fibromatosis	Gingival fibromatosis, Gingival overgrowth, Skin ulcer, Death in infancy	ORPHA:2028
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin	OMIM:602723
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:254478
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Catel-Manzke Syndrome	Oral synechia, Glossoptosis, Failure to thrive, Cleft palate	ORPHA:1388
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal dental morphology, Pruritus, Superficial dermal perivascular inflammatory infiltrate, Pa...	OMIM:618531
Cole Disease	Abnormality of the dentition, Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hy...	OMIM:615522
Lichen Planopilaris	Skin ulcer, Neoplasm of the oral cavity, Abnormal intestine morphology, Pruritus, Hyperkeratosis	ORPHA:525
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Thickened skin, Carious teeth, Pal...	ORPHA:659
Vulvovaginal Gingival Syndrome	Erythema, Oral ulcer, Parakeratosis, Gingivitis, Pruritus	ORPHA:83453
Sjögren-Larsson Syndrome	Erythema, Abnormal dental enamel morphology, Dry skin, Ichthyosis, Hyperkeratosis	ORPHA:816
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh...	OMIM:620014
Solar Urticaria	Abnormal lip morphology, Angioedema, Abnormal tongue morphology, Periorbital edema, Pruritus, Edema	ORPHA:97230
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr...	OMIM:619208
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Dracunculiasis	Recurrent cutaneous abscess formation, Pruritus, Skin ulcer, Skin rash	ORPHA:231
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling ski...	ORPHA:100976
Flynn-Aird Syndrome	Carious teeth, Hyperkeratosis, Ataxia	OMIM:136300
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy	OMIM:614876
Psoriasis 14, Pustular	Erythema, Furrowed tongue, Psoriasiform dermatitis, Pustule, Parakeratosis, Geographic tongue	OMIM:614204
Hartnup Disorder	Glossitis, Episodic ataxia	OMIM:234500
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Reticular Dysgenesis	Skin ulcer, Failure to thrive, Skin rash, Weight loss, Dehydration	ORPHA:33355
Acquired Hypertrichosis Lanuginosa	Thickened skin, Ichthyosis, Weight loss, Acanthosis nigricans, Macroglossia, Glossitis	ORPHA:2221
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Eclabion, Hyperkeratosis, Congenital nonbullous ic...	OMIM:615023
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Eclabion, Hyperkeratosis, Congenital nonbullous i...	OMIM:606545
Free Sialic Acid Storage Disease	Athetosis, Skin ulcer, Ascites, Failure to thrive in infancy, Gait disturbance, Ataxia, Hydrops f...	ORPHA:834
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Thin upper lip vermilion, Follicular hyperkeratosis, Enamel hypoplasia,...	OMIM:613576
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis	OMIM:613943
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Tip-toe gait	ORPHA:496689
Keratoderma Hereditarium Mutilans	Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cleft palate	ORPHA:494
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Skin ulcer, Lymphedema, Cobblestone-like hyper...	ORPHA:90186
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis	ORPHA:90368
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Dysmetria, Parakeratosis, Acanthosis nigricans, Ataxia, Hyperke...	OMIM:618527
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Scaling sk...	OMIM:607602
Chilblain Lupus 1	Skin ulcer, Chilblains	OMIM:610448
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Acrodermatitis Enteropathica	Erythema, Failure to thrive, Skin ulcer, Furrowed tongue, Dry skin, Pustule, Weight loss, Abnorma...	ORPHA:37
Recessive X-Linked Ichthyosis	Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:461
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane...	OMIM:613736
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Ascites, Akinesia, Open mouth, Narrow mouth, Ichthyosis, Nonimmune h...	OMIM:608013
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Inability to walk, Dry skin, High palate, Follicular hyperkeratosis	OMIM:617066
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man...	OMIM:614669
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Penetrating foot ulcers, Inability to walk, Gait imbalance, Steppage gait, Hyperkerat...	ORPHA:36386
Moynahan Syndrome	Cachexia, Hyperkeratosis	ORPHA:2574
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosi...	OMIM:602540
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Erythroderma, Everted lower lip...	OMIM:242300
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Ataxia, Tongue atrophy, Short mandibular rami	OMIM:141300
Epilepsy, Progressive Myoclonic, 9	Microglossia, Gait ataxia	OMIM:616540
Noonan Syndrome 8	Webbed neck, Eczematoid dermatitis, Failure to thrive, Large for gestational age, Pleural effusio...	OMIM:615355
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Hyperkeratosis	OMIM:607936
Costello Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Failu...	ORPHA:3071
Cardiofaciocutaneous Syndrome 3	Webbed neck, Wide mouth, Failure to thrive, Hyperkeratosis	OMIM:615279
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Xerostomia, Eczematoid dermatitis, Failure to thrive, Tooth agenesi...	ORPHA:238468
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Harlequin Ichthyosis	Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Eclabion, Hyperkeratosis, Dehydr...	ORPHA:457
Rothmund-Thomson Syndrome, Type 1	Conical tooth, Hyperkeratosis	OMIM:618625
Prolidase Deficiency	Erythema, Carious teeth, Palmoplantar keratoderma, Skin ulcer, Dry skin, Crusting erythematous de...	ORPHA:742
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Failure to thrive, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis	OMIM:612379
Schopf-Schulz-Passarge Syndrome	Hypodontia, Palmoplantar keratoderma, Hyperkeratosis, Dry skin	OMIM:224750
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Erythema, Xerostomia, Eczematoid dermatitis, Ora...	ORPHA:2907
Myasthenic Syndrome, Congenital, 10	Tongue atrophy, Waddling gait	OMIM:254300
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Gait disturbance, Acral ulceration, Skin ulcer	ORPHA:139578
Irida Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis	OMIM:617525
Faciocardiomelic Dysplasia, Lethal	Microglossia, Narrow mouth, Small for gestational age, Neonatal death	OMIM:227270
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Tongue fasciculations, Tongue atrophy	OMIM:613435
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Gait disturbance, Tongue atrophy, Steppage gait	OMIM:616155
Proteus Syndrome	Open mouth, Hyperkeratosis	OMIM:176920
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue, Gait disturbance, Truncal obesity	ORPHA:2928
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, H...	OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Congen...	OMIM:604777
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Abnormality of the dentition, Carious teeth, Anoperineal fistula, Failure to thrive, C...	ORPHA:158668
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer, Abnormal lip morphology, Abnormal dental enamel morphology, Skin rash, Prur...	ORPHA:1334
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis	OMIM:247100
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Evert...	OMIM:242100
Tylosis With Esophageal Cancer	Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ...	OMIM:148500
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma, Generalized hyperkeratosis	OMIM:133200
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Smooth tongue, Widely spaced primary teeth, Hypergranulosis, Agenesis o...	OMIM:257980
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Carious teeth, Skin ulcer, Lip fissure, Aphthous ulcer	OMIM:620603
X-Linked Agammaglobulinemia	Failure to thrive, Skin ulcer, Skin rash, Weight loss, Glossoptosis, Recurrent cutaneous abscess ...	ORPHA:47
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Hypergranulosis, Psoriasiform dermat...	OMIM:615508
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, High palate, Overweight, Follicular hyperkeratosis	ORPHA:486815
Acrogeria	Skin ulcer, Excessive wrinkled skin, Thin skin	ORPHA:2500
Flynn-Aird Syndrome	Cachexia, Carious teeth, Skin ulcer, Ataxia	ORPHA:2047
Leishmaniasis	Abnormal oral mucosa morphology, Skin ulcer, Pallor, Abnormal oral cavity morphology, Weight loss	ORPHA:507
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Netherton Syndrome	Eczematoid dermatitis, Angioedema, Failure to thrive, Hypernatremic dehydration, Villous atrophy,...	OMIM:256500
Hypotrichosis 6	Erythema, Pruritus, Follicular hyperkeratosis	OMIM:607903
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Failure to thrive, Dysmetria, Ataxia, Glossoptosis, Dysdiadochokinesis, Cleft palate	OMIM:618356
Prolidase Deficiency	Skin ulcer, Eczematoid dermatitis, Failure to thrive, Petechiae, Crusting erythematous dermatitis...	OMIM:170100
Atypical Pantothenate Kinase-Associated Neurodegeneration	Gait disturbance, Tongue atrophy	ORPHA:216873
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Follicular hyperkeratos...	OMIM:615726
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth, Hyperkeratosis	ORPHA:1839
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Hyperkeratosi...	OMIM:616029
Pachyonychia Congenita	Natal tooth, Failure to thrive, Oral leukoplakia, Palmoplantar keratoderma, Linear arrays of macu...	ORPHA:2309
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Failure to thrive, Dry skin, Ichthyosis, Death in infancy, ...	OMIM:610768
Chromomycosis	Predominantly lower limb lymphedema, Hyperkeratotic papule, Hyperparakeratosis, Lymphedema, Abnor...	ORPHA:182
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Skin vesicle, Erythema migrans	ORPHA:158681
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Failure to thrive, Dry skin, Death in infancy, Enamel hypopl...	OMIM:614576
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer, Thin skin	ORPHA:743
Isolated Agammaglobulinemia	Skin rash, Skin ulcer, Recurrent cutaneous abscess formation, Failure to thrive	ORPHA:229717
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Leopard Syndrome 3	Webbed neck, Hyperkeratosis, Dry skin, Epidermal hyperkeratosis	OMIM:613707
Reynolds Syndrome	Xerostomia, Skin ulcer, Ascites, Skin rash, Abnormal gastric mucosa morphology, Pruritus, Sclerod...	ORPHA:779
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tip-toe gait, Loss of ambulation, Steppage gait, Gait disturbance, Tongue ...	OMIM:620285
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Psoriasiform lesion, Malar rash, Cheilitis, Hyperkeratosis	ORPHA:163525
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis	OMIM:136630
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Inability to walk, Thin upper lip vermilion, Short philtrum, Lobulat...	OMIM:613443
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat...	OMIM:148700
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Whistling Face Syndrome, Recessive Form	Whistling appearance, Microglossia, Long philtrum, Narrow mouth, High palate	OMIM:277720
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Acne inversa, Eczematoid dermatitis, Orthokeratosis, Short...	OMIM:617337
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Oral ulcer, Morphea	OMIM:620443
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Delayed eruption of teeth, Eczematoid dermatitis, Skin ulcer, Skin ...	ORPHA:2314
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, Skin ulcer, Recurrent bacterial skin infections, Anal canal squamous carcinoma	ORPHA:217390
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis	ORPHA:199267
Ichthyosis Prematurity Syndrome	Follicular hyperkeratosis, Erythroderma, Polyhydramnios, Generalized ichthyosis, Pruritus	OMIM:608649
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Skin ulcer, Saliva...	ORPHA:79493
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Hyperkeratosis, Failure to thrive, Death in childhood	OMIM:301108
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Dowling-Degos Disease	Hyperkeratotic papule, Acne inversa, Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:79145
Plummer-Vinson Syndrome	Narrow mouth, Pallor, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue ...	ORPHA:54028
Spinocerebellar Ataxia 34	Limb ataxia, Gait ataxia, Erythroderma, Ataxia, Dysdiadochokinesis, Epidermal hyperkeratosis	OMIM:133190
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Infantile Systemic Hyalinosis	Thickened skin, Failure to thrive, Skin ulcer, Lymphedema, Abnormal dental morphology, Gingival o...	ORPHA:2176
Aplasia Cutis Congenita	Erythema, Skin ulcer	ORPHA:1114
Necrobiosis Lipoidica	Erythema, Inflammatory abnormality of the skin, Skin ulcer	ORPHA:542592
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum	ORPHA:1387
Trichothiodystrophy 1, Photosensitive	Dry skin, Intestinal obstruction, Death in infancy, Triangular mouth, Erythroderma, Congenital no...	OMIM:601675
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Oligodontia, Hypodontia, Parakeratosis, Enamel hypoplasia, ...	OMIM:607626
Acrokeratosis Verruciformis	Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Congenital ichthyosiform erythroderma, Conical primary incisor, Hyperkeratosis	OMIM:602400
Cronkhite-Canada Syndrome	Lymphedema, Furrowed tongue, Stomach cancer, Intestinal polyposis, Cachexia, Hypogeusia, Hamartom...	ORPHA:2930
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum, Colitis, Cystic acne, Acne	OMIM:604416
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Dry skin, Facial erythema, Follicular hyperkeratosis	OMIM:308800
Mednik Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis	ORPHA:171851
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia	OMIM:167200
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Hyperkeratosis, Ichthyosis	ORPHA:281090
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra...	OMIM:300602
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Lobulated tongue	OMIM:617127
Kid Syndrome	Abnormality of the dentition, Folliculitis, Palmoplantar keratoderma, Acne inversa, Failure to th...	ORPHA:477
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Cardiofaciocutaneous Syndrome	Webbed neck, Palmoplantar keratoderma, Long philtrum, Lymphedema, Failure to thrive in infancy, D...	ORPHA:1340
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Difficulty walking, Limb ataxia, Dysmetria, Ataxia, Truncal ataxia, Tongue...	ORPHA:276198
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Joint swelling, Skin rash, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Furrowed tongue, Periorbital edema, Macroglossia, Cheilitis...	ORPHA:2483
Donohue Syndrome	Thick lower lip vermilion, Gingival overgrowth, Severe failure to thrive, Acanthosis nigricans, H...	OMIM:246200
Sialidosis Type 1	Ataxia, Gait disturbance, Hyperkeratosis, Thick lower lip vermilion	ORPHA:812
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Oral leukoplakia, Furrowed tongue, Ichthyosis, Microdontia, Hyperkeratosis, Recurrent bacterial s...	OMIM:148210
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:79151
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short philtrum, Wide mouth, Hyperkeratosis, Death in infancy	ORPHA:163966
Tarp Syndrome	Meckel diverticulum, Failure to thrive, Athetosis, Oligohydramnios, Neonatal death, High palate, ...	OMIM:311900
Singleton-Merten Syndrome 2	Abnormality of the dentition, Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Spinocerebellar Ataxia 36	Tongue fasciculations, Limb ataxia, Gait ataxia, Ataxia, Truncal ataxia, Tongue atrophy	OMIM:614153
Hypotrichosis And Recurrent Skin Vesicles	Abnormality of the dentition, Angular cheilitis, Follicular hyperkeratosis, Skin vesicle	OMIM:613102
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Hidrotic Ectodermal Dysplasia	Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,...	ORPHA:189
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-Robin sequence	OMIM:613604
Adult Polyglucosan Body Disease	Gait disturbance, Skin ulcer, Ataxia	ORPHA:206583
Lelis Syndrome	Carious teeth, Furrowed tongue, Hypodontia, Acanthosis nigricans, Palmoplantar hyperkeratosis	ORPHA:140936
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis	ORPHA:38
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N...	OMIM:620107
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:620269
Werner Syndrome	Skin ulcer, Neoplasm of the oral cavity, Slender build, Lack of skin elasticity, Hyperkeratosis, ...	ORPHA:902
Holzgreve Syndrome	Webbed neck, Aplasia/Hypoplasia of the tongue, Oligohydramnios, Bifid tongue, Cleft palate	ORPHA:2167
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Skin ulcer, Neoplasm of the rectum, Anal canal squamous cell ...	ORPHA:424019
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Abnormality of the dentition, Webbed neck, Dental malocclusion, Failure to thr...	OMIM:115150
Autosomal Dominant Severe Congenital Neutropenia	Periodontitis, Recurrent aphthous stomatitis, Oral ulcer, Pyoderma gangrenosum, Gingivitis, Recur...	ORPHA:486
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Furrowed tongue, Acne inversa, Eczematoid dermatitis	OMIM:301845
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Ascites, Hypodontia, Enamel hypoplasia, Hydro...	OMIM:253250
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Poikiloderma With Neutropenia	Carious teeth, Palmoplantar keratoderma, Long philtrum, Skin rash, Plantar hyperkeratosis, Hyperk...	OMIM:604173
Pyoderma Gangrenosum	Pustule, Skin vesicle, Inflammation of the large intestine, Skin ulcer	ORPHA:48104
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Hyperkeratosis, Skin ulcer	ORPHA:1806
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Hyperkeratosis, Skin ulcer, Scaling skin	ORPHA:454831
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent skin infections, Pyoderma gangrenosum	OMIM:616576
Monilethrix	Abnormality of the dentition, Follicular hyperkeratosis	ORPHA:573
Polyarteritis Nodosa	Erythema, Weight loss, Skin ulcer	ORPHA:767
Buerger Disease	Skin ulcer	ORPHA:36258
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
Dermatoosteolysis, Kirghizian Type	Abnormality of the dentition, Skin ulcer, Oligodontia	ORPHA:1657
Mandibuloacral Dysplasia	Dental crowding, Abnormal tongue morphology, Acanthosis nigricans, High palate, Hypoplasia of tee...	ORPHA:2457
Papa Syndrome	Pustule, Acne, Skin ulcer	ORPHA:69126
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Methylmalonic Acidemia With Homocystinuria Type Cblf	Failure to thrive, Skin rash, Lethargy, Glossitis, Stomatitis, Cleft palate	ORPHA:79284
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum, Recurrent aphthous stomatitis, Chronic oral candidiasis	OMIM:150550
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Epidermal hyperkeratosis	OMIM:620483
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Widely spaced teeth, Obesity, Gait imbalance, Protruding tongue, Ataxia, Wide m...	ORPHA:411511
Charcot-Marie-Tooth Disease, Type 4C	Difficulty walking, Tongue fasciculations, Tongue atrophy	OMIM:601596
Milroy Disease	Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema	ORPHA:79452
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Hyperkeratosis	ORPHA:1883
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Skin rash, Thin upper lip vermilion, Glossitis, Lethargy, Tracheoesophageal fi...	OMIM:277380
Premature Aging Syndrome, Penttinen Type	Thickened skin, Delayed eruption of teeth, Failure to thrive, Corneal stromal edema, Narrow philt...	OMIM:601812
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Failure to thrive, Protruding tongue, Death in childhood, Alveolar ridge overgrowth,...	OMIM:612938
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Hartnup Disease	Gingivitis, Glossitis, Skin rash, Ataxia	ORPHA:2116
Takayasu Arteritis	Weight loss, Skin ulcer	ORPHA:3287
Infantile Myofibromatosis	Skin ulcer, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula, Gin...	ORPHA:2591
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Supernumerary tooth, E...	OMIM:190351
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Long philtrum, Follicular hyperkeratosis	OMIM:615225
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S...	ORPHA:3241
Hereditary Folate Malabsorption	Glossitis, Cheilitis, Pallor, Failure to thrive	ORPHA:90045
Auriculocondylar Syndrome 3	Bifid uvula, Glossoptosis	OMIM:615706
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis	ORPHA:398124
Ring Chromosome 22 Syndrome	Lymphedema, Pleural effusion, Protruding tongue, Gait ataxia, Thick vermilion border, Edema	ORPHA:1446
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morph...	ORPHA:2759
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Abnormal dental enamel morphology, Dry skin, Oligodontia, Orofacial cleft, Hyper...	OMIM:601701
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tip-toe gait, Penetrating foot ulcers, Difficulty walking, Inabil...	ORPHA:99956
Chime Syndrome	Abnormality of the dentition, Erythema, Skin ulcer, Abnormal dental morphology, Ichthyosis, Micro...	ORPHA:3474
Ullrich Congenital Muscular Dystrophy 1A	Slender build, High palate, Follicular hyperkeratosis, Failure to thrive	OMIM:254090
Ollier Disease	Skin ulcer	ORPHA:296
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Thick vermilion border, Palpebral ede...	OMIM:137940
Hypoglossia With Situs Inversus	Hypodontia, High palate, Microglossia, Narrow mouth	OMIM:612776
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Skin ulcer	ORPHA:352723
Agel Amyloidosis	Xerostomia, Dry skin, Blepharochalasis, Cutis laxa, Ataxia, Pruritus, Tongue atrophy, Edema	ORPHA:85448
Seckel Syndrome 2	Microglossia, Small for gestational age, Microdontia	OMIM:606744
Malakoplakia	Inflammatory abnormality of the skin, Skin ulcer, Neoplasm of the colon, Skin rash, Neoplasm of t...	ORPHA:556
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Incontinentia Pigmenti	Erythema, Delayed eruption of teeth, Skin ulcer, Abnormal dental enamel morphology, Abnormal dent...	ORPHA:464
Pallister-Hall-Like Syndrome	Median cleft upper lip, Death in infancy, Microglossia, Cleft palate	OMIM:241800
Adult Syndrome	Abnormality of the dentition, Skin ulcer, Abnormal dental morphology, Dry skin, Thin skin	ORPHA:978
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Bone Marrow Failure Syndrome 3	Eczematoid dermatitis, Downturned corners of mouth, Failure to thrive, Oral ulcer, Microdontia, H...	OMIM:617052
Giant Cell Arteritis	Glossitis, Weight loss, Skin ulcer, Ataxia	ORPHA:397
Angelman Syndrome	Broad-based gait, Widely spaced teeth, Obesity, Protruding tongue, Progressive gait ataxia, Ataxi...	OMIM:105830
Marshall-Smith Syndrome	Failure to thrive, Gingival overgrowth, Open mouth, Protruding tongue, Thin skin	ORPHA:561
Pgm3-Cdg	Atopic dermatitis, Eczematoid dermatitis, Cutaneous abscess, Failure to thrive, Skin ulcer, Esoph...	ORPHA:443811
Orofaciodigital Syndrome V	Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip...	OMIM:174300
Agnathia-Otocephaly Complex	Microglossia, Aglossia, Narrow mouth, Polyhydramnios, Cleft palate	OMIM:202650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Shuffling gait, Failure to thrive, Diastema, Furrowed tongue, Decreased body weight, Thin upper l...	OMIM:300534
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Tongue atrophy	OMIM:614678
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Inability to walk, Upper eyelid edema, Open mouth, Protruding tongue, Smooth philtrum, Everted lo...	OMIM:617804
Generalized Pustular Psoriasis	Obesity, Overweight, Palmoplantar pustulosis, Pustule, Erythroderma, Geographic tongue, Cheilitis...	ORPHA:247353
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Failure to thrive	OMIM:617388
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Carious teeth, Periodontitis, Palmoplantar kerato...	ORPHA:2908
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate...	OMIM:258860
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate	ORPHA:3201
Noonan Syndrome 10	Webbed neck, Increased nuchal translucency, Pleural effusion, Palmoplantar cutis laxa, High palat...	OMIM:616564
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl...	OMIM:616367
9Q21.13 Microdeletion Syndrome	Difficulty walking, Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Cleft upper lip, Parakeratosis, ...	OMIM:308050
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Falls, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, H...	OMIM:618106
Xeroderma Pigmentosum	Abnormality of the dentition, Thickened skin, Erythema, Failure to thrive, Dry skin, Ataxia, Hype...	ORPHA:910
Familial Multiple Nevi Flammei	Skin ulcer, Edema	ORPHA:624
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Chronic Granulomatous Disease	Skin ulcer, Eczematoid dermatitis, Tracheoesophageal fistula, Gingivitis, Pyloric stenosis	ORPHA:379
Developmental And Epileptic Encephalopathy 80	Failure to thrive, Long philtrum, Tented upper lip vermilion, Protruding tongue, Death in infancy...	OMIM:618580
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Polyhydramnios, Cl...	ORPHA:1790
Joubert Syndrome 18	Cleft palate, Lobulated tongue	OMIM:614815
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Webbed neck, Eczematoid dermatitis, Failure to thrive, Large for gestational age, Ichthyosis, Pol...	OMIM:607721
Gracile Bone Dysplasia	Ascites, Ankyloglossia, Failure to thrive, Death in infancy	OMIM:602361
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Widely spaced teeth, Gait imbalance, Protruding tongue, Wide mouth	ORPHA:98795
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Gait imbalance, Death in childhood, Ataxia, Truncal ataxia, Tongue atrophy	OMIM:211530
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Kanzaki Disease	Thick lower lip vermilion, Lymphedema, Dry skin, Petechiae, Telangiectasia of the oral mucosa, Li...	OMIM:609242
Congenital Sialidosis Type 2	Ascites, Gingival overgrowth, Protruding tongue, Dysmetria, Petechiae, Ataxia, Edema	ORPHA:93400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Failure to thrive, Oligohydramnios, Tented upper lip vermili...	ORPHA:364577
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Failure to thrive, Hamartoma of tongue, Abnormal oral fren...	ORPHA:2754
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Congenital Disorder Of Glycosylation, Type Iia	Failure to thrive, Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protrud...	OMIM:212066
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Imerslund-Gräsbeck Syndrome	Failure to thrive, Pallor, Angular cheilitis, Weight loss, Glossitis	ORPHA:35858
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia, Dysmetria, Ataxia	OMIM:619352
Acrocallosal Syndrome	Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Tongue fasciculations, Acral ulceration	OMIM:162400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Xerostomia, Cachexia, Glossitis, Hamartomatous polyposis	OMIM:175500
Congenital Disorder Of Glycosylation, Type Iig	Long philtrum, Failure to thrive in infancy, Narrow mouth, Thin upper lip vermilion, Smooth philt...	OMIM:611209
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Widely spaced teeth, Obesity, Gait imbalance, Protruding tongue, Ataxia, Wide m...	ORPHA:98794
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Thickened skin, Digi...	ORPHA:90291
X-Linked Dystonia-Parkinsonism	Difficulty walking, Shuffling gait, Protruding tongue, Bradykinesia	ORPHA:53351
Hajdu-Cheney Syndrome	Abnormality of the dentition, Thickened skin, Periodontitis, Downturned corners of mouth, Long ph...	ORPHA:955
Incontinentia Pigmenti	Erythema, Conical tooth, Delayed eruption of teeth, Pallor, Oligodontia, Hypodontia, Maculopapula...	OMIM:308300
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Developmental And Speech Delay Due To Sox5 Deficiency	Dental crowding, Narrow palate, Exaggerated median tongue furrow	ORPHA:313892
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Skin ulcer	ORPHA:86884
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Chylothorax, Erysipelas, Long philtrum, Lymphedema, Skin ulcer, Dry skin, Pleural...	ORPHA:2526
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Gingival overgrowth, Narrow mouth, Protruding tongue, Gait disturbance, Ataxia	OMIM:230600
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Leukocyte Adhesion Deficiency Type Ii	Failure to thrive, Gingival overgrowth, Protruding tongue, Impaired tandem gait, Skin vesicle, De...	ORPHA:99843
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Ankyloglossia, Bilateral cleft palate, Thin upper lip vermilion, Bilateral cle...	OMIM:618874
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Skin ulcer, Chronic mucocutaneous candidiasis, Rectal abscess, Gingivitis	OMIM:116920
Fucosidosis	Abnormality of the dentition, Failure to thrive, Generalized hyperkeratosis	ORPHA:349
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Open mouth, Everted lower lip vermilion, Taurodontia, Th...	ORPHA:534
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Xerostomia, Skin ulcer	ORPHA:220393
Trisomy 8Q	Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi...	ORPHA:1752
Chand Syndrome	Agenesis of permanent teeth, Dry skin, Abnormal oral frenulum morphology, Ataxia, Bifid tongue, A...	ORPHA:1401
Acquired Purpura Fulminans	Pyoderma gangrenosum, Skin rash, Macular purpura	ORPHA:49566
Bethlem Muscular Dystrophy	Difficulty walking, Gait disturbance, Hyperkeratosis, Waddling gait	ORPHA:610
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Hydromyelia, Eczematoid dermatitis, Dry skin, ...	OMIM:308205
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis, Ataxia	ORPHA:28378
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis	ORPHA:1005
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Colitis, Hyperkeratosis	OMIM:301220
Juvenile Dermatomyositis	Erythema, Skin ulcer, Dry skin, Skin rash, Weight loss, Palpebral edema, Pruritus	ORPHA:93672
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Failure to thrive, Long philtrum, Oligohydramnios...	OMIM:608670
Cushing Disease	Skin ulcer, Striae distensae, Ecchymosis, Increased body weight, Recurrent cutaneous fungal infec...	ORPHA:96253
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Downturned corners of mouth, Ataxia, Short philtrum, Hyperkeratosis, Esophageal stenosis	OMIM:615510
Dyskeratosis Congenita	Abnormality of the dentition, Carious teeth, Periodontitis, Oral leukoplakia, Palmoplantar kerato...	ORPHA:1775
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Inability to walk, Protruding tongue, Smooth philtrum, Steppage gait, Everted lower lip vermilion	ORPHA:324410
Carey-Fineman-Ziter Syndrome	Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate, Glossoptosis...	ORPHA:1358
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Erythema, Cystic acne, Acne inversa	OMIM:608068
Arthrogryposis, Distal, Type 5D	Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate	OMIM:615065
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Narrow mouth, Palmoplantar hyperkeratosis, High palate, Ham...	OMIM:615108
Noonan Syndrome 2	Webbed neck, Long philtrum, Increased nuchal translucency, Redundant neck skin, Nonimmune hydrops...	OMIM:605275
Mhc Class I Deficiency 1	Skin ulcer	OMIM:604571
Hereditary Spherocytosis	Maculopapular exanthema, Pallor, Skin ulcer, Ataxia	ORPHA:822
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes...	ORPHA:193
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin, Gingival overgrowth, Wide mouth, Protruding tongue	OMIM:618797
Otospondylomegaepiphyseal Dysplasia	Polyhydramnios, Bifid uvula, Glossoptosis, Cleft palate	ORPHA:1427
Orofaciodigital Syndrome Ii	Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ...	OMIM:252100
Livedoid Vasculopathy	Skin ulcer, Macular purpura, Superficial dermal perivascular inflammatory infiltrate, Ecchymosis,...	ORPHA:542643
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczematoid dermatitis, Skin ulcer, Aphthous ulcer, Skin rash, Oral ulcer, Erythema nodosum, Ataxi...	OMIM:615688
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Op...	ORPHA:2750
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Palmoplantar keratoderma, Smooth tongue, Failure to thrive, Oral mucosal blisters, Enam...	ORPHA:79396
Dominant Beta-Thalassemia	Failure to thrive in infancy, Abnormality of the dentition, Pallor, Skin ulcer	ORPHA:231226
Eec Syndrome	Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel morphology, Dry skin, Microdont...	ORPHA:1896
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Follicular hyperkeratosis, Chronic mucocutaneous candidiasis, Erythematous oral ...	OMIM:158310
Cryoglobulinemic Vasculitis	Petechiae, Purpura, Skin ulcer	ORPHA:91138
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Stomach cancer,...	ORPHA:79501
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Hyperk...	ORPHA:79280
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Tracheoesophageal fistula, Weight loss, Acantholysis, Intestinal perforation	ORPHA:537
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Protruding tongue, Failure to thrive	OMIM:242860
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue, Dysmetria, Loss of ambulation, Ataxia	ORPHA:93399
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Narrow mouth, Palmoplantar hyperkeratosis, High palate, Ham...	OMIM:615109
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to...	ORPHA:2752
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Reactive Arthritis	Inflammation of the large intestine, Recurrent aphthous stomatitis, Joint swelling, Pustule, Weig...	ORPHA:29207
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Downturned corners of mouth, Failure to thrive, Furrowed tongue, Increased nuchal tr...	ORPHA:453499
Dermatomyositis	Erythema, Heliotrope rash, Skin ulcer, V-sign, Dry skin, Skin rash, Gastrointestinal stroma tumor...	ORPHA:221
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Incomplete cleft of the upper lip, Stillbirth, Bifid...	OMIM:616300
Charcot-Marie-Tooth Disease Type 1F	Inability to walk, Limb ataxia, Gait ataxia, Steppage gait, Unsteady gait, Tongue atrophy	ORPHA:101085
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Obesity, Protruding tongue, Everted lower lip vermilio...	OMIM:610253
6Q Terminal Deletion Syndrome	High, narrow palate, Failure to thrive, Obesity, Gait ataxia, Dysmetria, Thick vermilion border, ...	ORPHA:75857
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Narrow mouth, Acrokeratosis, Palmoplantar hyperkeratosis, H...	OMIM:158350
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Decreased body weight, Aga...	ORPHA:1051
Short-Rib Thoracic Dysplasia 12	Natal tooth, Ascites, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Neonatal ...	OMIM:269860
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Jejunal atresia, Hypodontia, Hi...	ORPHA:989
Tetraamelia Syndrome 2	Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip	OMIM:618021
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Cleft palate	ORPHA:440354
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Skin ulcer, Abnormality of taste sensation, Pustule, Lethargy, Ataxia, Ce...	ORPHA:68
Pitt-Hopkins-Like Syndrome 2	Broad-based gait, Wide mouth, Protruding tongue	OMIM:614325
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Dry skin, Gingival overgrowth, Ad...	ORPHA:769
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bifid tongue, Bilateral cleft palate	ORPHA:2001
Lethal Faciocardiomelic Dysplasia	Microglossia, Narrow mouth	ORPHA:1972
Basel-Vanagaite-Smirin-Yosef Syndrome	Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermilion, High palate, Short phil...	OMIM:616449
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Failure to thrive, Protruding tongue, Death in childhood, Redundant neck ski...	OMIM:214100
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Narrow mouth, Protruding tongue, Death in infancy, Excessive wrinkled skin, Sm...	OMIM:608779
Distal Limb Deficiencies-Micrognathia Syndrome	Microglossia, Narrow mouth, Microdontia, High palate, Cleft palate	ORPHA:1307
Orofaciodigital Syndrome Vi	Lobulated tongue, Cleft upper lip, Failure to thrive, Hamartoma of tongue, Incomplete cleft of th...	OMIM:277170
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration, Hypogeusia	OMIM:201300
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Failure to thrive, Difficulty walking, Ina...	ORPHA:99949
Microcephaly 26, Primary, Autosomal Dominant	Gingival overgrowth, Failure to thrive, Protruding tongue, Long philtrum	OMIM:619179
Robinow Syndrome, Autosomal Dominant 3	Webbed neck, Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anterior...	OMIM:616894
Raine Syndrome	Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Death in infancy, Microdontia,...	OMIM:259775
Orofaciodigital Syndrome I	Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ...	OMIM:311200
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Acanthol...	OMIM:601214
Myopathy, Myofibrillar, 7	Difficulty walking, Tongue atrophy	OMIM:617114
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Carious teeth, Failure to thrive, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow mouth...	ORPHA:89842
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Chronic Graft Versus Host Disease	Thickened skin, Erythema, Xerostomia, Skin ulcer, Ascites, Pleural effusion, Morphea, Skin vesicl...	ORPHA:99921
Amyotrophic Lateral Sclerosis	Tongue atrophy, Cachexia, Xerostomia	ORPHA:803
Down Syndrome	Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low...	ORPHA:870
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Oligohydramnios, Orofacial cleft, Tracheoesophageal fistula, Hi...	ORPHA:958
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Premature loss of permanent teeth, Scler...	OMIM:610644
Autosomal Recessive Robinow Syndrome	Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi...	ORPHA:1507
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Angioedema, Skin rash, Pustule, Purpura, Edema	ORPHA:761
Ramon Syndrome	Delayed eruption of teeth, Decreased body weight, Narrow palate, Gingival fibromatosis, Hyperkera...	OMIM:266270
Beta-Thalassemia Major	Failure to thrive in infancy, Abnormality of the dentition, Pallor, Skin ulcer	ORPHA:231214
Microscopic Polyangiitis	Erythema, Skin ulcer, Skin rash	ORPHA:727
Stuve-Wiedemann Syndrome 1	Carious teeth, Smooth tongue, Pursed lips, Premature skin wrinkling, Oligohydramnios, Death in in...	OMIM:601559
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Death in infancy, Microdontia, Ever...	ORPHA:570
Restrictive Dermopathy 1	Natal tooth, Epidermal hyperkeratosis, Oligohydramnios, Narrow mouth, Submucous cleft hard palate...	OMIM:275210
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Failure to thrive, Obesity, Protruding tongue, Everted lower lip ver...	ORPHA:96147
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Plague	Inflammation of the large intestine, Skin ulcer, Chapped lip, Dry skin, Skin rash, Ileitis, Carbu...	ORPHA:707
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Difficulty walking, Furrowed tongue, Inability to walk, Tented upper lip ver...	ORPHA:464738
Granulomatosis With Polyangiitis	Weight loss, Skin ulcer, Oral ulcer	OMIM:608710
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open...	ORPHA:1452
Hypomandibular Faciocranial Dysostosis	Aglossia, Pursed lips	OMIM:241310
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Warburg-Cinotti Syndrome	Erythema, Dental crowding, Gingival overgrowth, Joint swelling, Follicular hyperkeratosis, High p...	OMIM:618175
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Polyhydramnios, Microglossia, Narrow mouth	ORPHA:990
Cowden Syndrome	Palmoplantar keratoderma, Failure to thrive, Generalized hyperkeratosis, Furrowed tongue, Colorec...	ORPHA:201
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Cerebrocostomandibular Syndrome	Webbed neck, Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Clef...	OMIM:117650
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Obesity, Open mouth, Narrow mouth, ...	OMIM:616078
Kinsship Syndrome	Downturned corners of mouth, Failure to thrive, Thick lower lip vermilion, Widely spaced teeth, A...	OMIM:619297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:453504
Blau Syndrome	Erythema, Xerostomia, Skin ulcer, Dry skin, Joint swelling, Skin rash, Ichthyosis, Erythema nodos...	ORPHA:90340
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:352665
Treacher-Collins Syndrome	Abnormality of the dentition, Failure to thrive, Cleft upper lip, Tooth agenesis, Open bite, Abno...	ORPHA:861
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue, Failure to thrive	OMIM:620352
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Tarp Syndrome	Broad-based gait, Failure to thrive, Alveolar ridge overgrowth, Abnormal duodenum morphology, Glo...	ORPHA:2886
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Thickened skin, Weight loss, Hyperkeratosis	ORPHA:79430
Carey-Fineman-Ziter Syndrome 1	Microglossia, Failure to thrive, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:254940
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Oligodontia, Microdontia, A...	OMIM:129900
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Gait ataxia, Protruding tongue, Ataxia, Choreoathetosis	OMIM:619580
Angelman Syndrome	Broad-based gait, Widely spaced teeth, Inability to walk, Obesity, Protruding tongue, Ataxia, Wid...	ORPHA:72
Catastrophic Antiphospholipid Syndrome	Skin ulcer, Miscarriage	ORPHA:464343
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia, Skin ulcer	OMIM:245660
Achondrogenesis, Type Ia	Increased nuchal translucency, Protruding tongue, Stillbirth, Polyhydramnios, Hydrops fetalis	OMIM:200600
Hypoglossia-Hypodactylia	Aglossia, Microglossia, Narrow mouth	OMIM:103300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Cutis laxa, Follicular hyperkeratosis, Polyhydramnios, Waddling gait	OMIM:614557
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Smooth philtrum, Lethargy, Ataxia, Glossitis, Hydrops fetalis, Stomatitis, Deh...	ORPHA:79282
Granulomatosis With Polyangiitis	Skin ulcer, Skin rash, Intestinal obstruction, Abnormal oral cavity morphology, Weight loss, Peri...	ORPHA:900
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Eclabion, Ataxia, Downturned corners of mouth, Failure to thrive, Widely spa...	OMIM:619950
Cerebrocostomandibular Syndrome	Webbed neck, Death in infancy, Short hard palate, Glossoptosis, Cleft palate	ORPHA:1393
Fontaine Progeroid Syndrome	High, narrow palate, Failure to thrive, Long philtrum, Anteriorly placed anus, Premature skin wri...	OMIM:612289
Glucagonoma	Ascites, Necrolytic migratory erythema, Skin rash, Intestinal obstruction, Weight loss, Steatorrh...	ORPHA:97280

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