Gene Summary

patatin-like phospholipase domain containing 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Pnpla1tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased body length Pnpla1tm1b(KOMP)Wtsi HET Early adult 2.13×10-05

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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.


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


Panel B FCS file(s)

6 Images


Panel A FCS file(s)

6 Images

Human diseases caused by Pnpla1 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 Pnpla1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... OMIM:615024
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Pruritus ORPHA:79394

The table below shows human diseases predicted to be associated to Pnpla1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ulerythema Ophryogenesis
Facial erythema, Hyperkeratotic papule, Miscarriage, Contact dermatitis, Follicular hyperkeratosi... ORPHA:3406
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus, Generalized abnormal... ORPHA:737
Acquired Ichthyosis
Ichthyosis, Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Hyperkeratos... ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin... OMIM:617571
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... OMIM:148730
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition OMIM:617756
Ichthyosis, Annular Epidermolytic, 1
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis, Erythema OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema, Congenital nonbullous ichthyosiform erythr... OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis, Erythema OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... OMIM:613000
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic hyperkeratosis, Edema, Pa... ORPHA:498359
Lamellar Ichthyosis
Lack of skin elasticity, Ichthyosis, Erythroderma, Everted lower lip vermilion, Hyperkeratosis, D... ORPHA:313
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin OMIM:212360
Congenital Panfollicular Nevus
Hyperkeratosis, Pruritus ORPHA:139414
Porokeratosis Of Mibelli
Porokeratosis, Hyperkeratosis, Pruritus ORPHA:735
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Pruritus, Erythema ORPHA:2337
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Mal De Meleda
Ichthyosis, Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, S... ORPHA:87503
Huriez Syndrome
Sclerodactyly, Palmoplantar keratoderma, Dry skin, Lack of skin elasticity ORPHA:384
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Palmoplantar scaling skin, Scaling skin, Nonepidermolytic palmoplantar hyperke... ORPHA:530838
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis, Erythema ORPHA:79100
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Hyperkeratosis, Thickened skin ORPHA:1659
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Classic Mycosis Fungoides
Pruritus, Skin rash, Skin ulcer, Eczema, Edema, Erythema, Hyperkeratosis, Dry skin ORPHA:2584
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Ichthyosis Vulgaris
Eczematoid dermatitis, Ichthyosis, Dry skin OMIM:146700
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Recessive X-Linked Ichthyosis
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis, Dry skin ORPHA:461
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Pruritis on hand, Palmoplantar erythema, Striae distensae, Skin vesicle, Pruritu... ORPHA:64745
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Anonychia With Flexural Pigmentation
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Dermatitis, Atopic
Facial erythema, Ichthyosis, Eczema, Pallor, Dry skin, Recurrent skin infections, Pruritus, Atopi... OMIM:603165
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
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Skin rash, Erythema, Hyperkeratosis, Patchy palmoplantar hyperkeratos... ORPHA:317
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Ichthyosis, Dry skin ORPHA:2271
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Bathing Suit Ichthyosis
Thickened skin, Ichthyosis, Eclabion, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyos... ORPHA:100976
Ataxia-Photosensitivity-Short Stature Syndrome
Cutaneous photosensitivity, Gait disturbance, Ataxia, Dry skin, Urticaria ORPHA:1184
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Ichthyosis, Perioral erythema OMIM:248300
Sjögren-Larsson Syndrome
Ichthyosis, Erythema, Hyperkeratosis, Dry skin, Urticaria ORPHA:816
Thickened skin, Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ... ORPHA:281127
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity, Palmoplantar keratoderma ORPHA:1366
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Sclerode... ORPHA:90158
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Pruritus, Erythema ORPHA:33314
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Oral mucosal blisters, Hyperkeratosis, A... ORPHA:79399
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema,... OMIM:606545
Vibratory Urticaria
Facial erythema, Urticaria, Flushing OMIM:125630
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis OMIM:618084
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas ORPHA:228240
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lack of skin elasticity, Abnormal circulating lipid concentration, Thickened skin, Hyperlipoprote... ORPHA:1979
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Dry skin OMIM:617920
Costello Syndrome
Lack of skin elasticity, Polyhydramnios, Narrow palate, Thick lower lip vermilion, Macroglossia, ... ORPHA:3071
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis OMIM:613943
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Erythema, Hyperkerato... OMIM:614457
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized ichthyosis, Cutis laxa, Eclabion, Scaling skin, Generalized hyperkeratosis, Dry skin ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 6
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... OMIM:612281
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis, Oral mucosal blisters ORPHA:89838
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Death in infancy OMIM:219095
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema, Erythema, Urticaria OMIM:154800
Congenital Lethal Erythroderma
Ichthyosis, Death in infancy, Dry skin, Congenital exfoliative erythroderma, Urticaria ORPHA:1954
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Acral Peeling Skin Syndrome
Ichthyosis, Eczema, Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... OMIM:615024
Superficial Epidermolytic Ichthyosis
Ichthyosis, Edema, Erythema, Acantholysis, Palmoplantar keratoderma ORPHA:455
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Darier's sign, Thickened skin, Pruritus, Peau d'orang... ORPHA:79455
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperke... OMIM:615023
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus, Erythema ORPHA:83453
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin ORPHA:90160
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Petechiae, Skin rash, Bruising susceptibility, Erythema, Vas... ORPHA:280779
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ichthyosis, Pruritus, Parakeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:615821
Dermatofibrosarcoma Protuberans
Thickened skin, Skin ulcer, Erythema ORPHA:31112
Chilblain Lupus
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... ORPHA:90280
Cutaneous Small Vessel Vasculitis
Skin rash, Purpura, Cutis marmorata, Erythema, Recurrent skin infections, Urticaria ORPHA:889
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis, Parakeratosis, Skin fragility with n... ORPHA:158681
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Erythema, Inflammatory abnormality o... ORPHA:90159
Autosomal Dominant Epidermolytic Ichthyosis
Cutaneous photosensitivity, Ichthyosis, Congenital bullous ichthyosiform erythroderma, Skin ulcer... ORPHA:312
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Harlequin Ichthyosis
Ichthyosis, Erythroderma, Eclabion, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythro... ORPHA:457
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Bazex Syndrome
Pruritus, Parakeratosis, Edema, Scaling skin, Hyperkeratosis, Acanthosis nigricans, Lip hyperpigm... ORPHA:166113
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Pruritus, Fragile skin, Telangiectases of the cheeks, Scaling skin, Punctate palmoplantar hyperke... OMIM:616295
Uv-Sensitive Syndrome 3
Cutaneous photosensitivity, Telangiectasia, Dry skin OMIM:614640
Ichthyosis Hystrix, Curth-Macklin Type
Fragile skin, Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma OMIM:146590
Maculopapular Cutaneous Mastocytosis
Darier's sign, Dermatographic urticaria, Flushing, Erythema, Pruritus, Generalized abnormality of... ORPHA:79457
Spinocerebellar Ataxia Type 34
Dysdiadochokinesis, Gait disturbance, Progressive cerebellar ataxia, Dry skin, Urticaria ORPHA:1955
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Familial Benign Chronic Pemphigus
Acantholysis, Skin vesicle, Hyperkeratosis, Erythema ORPHA:2841
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Cutis laxa, Eczema, Dysphagia, Hyperkeratosis, Dry skin OMIM:612379
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pruritus, Palpebral edema, Erythema, Pharyngeal edema, Laryngeal edema, Tongue edema, Angioedema,... ORPHA:100057
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis OMIM:617115
Uv-Sensitive Syndrome 1
Cutaneous photosensitivity, Telangiectasia, Dry skin OMIM:600630
Hyperactivity, Eczema, Scleroderma, Attention deficit hyperactivity disorder, Dry skin OMIM:261600
Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Parake... OMIM:242300
Keratoderma Hereditarium Mutilans With Ichthyosis
Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyper... ORPHA:79395
Lipoid Proteinosis
Thickened skin, High palate, Tongue nodules, Thick lower lip vermilion, Pustule, Abnormal oral mu... ORPHA:530
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Ataxia, Scaling skin, Erythroderma, Hyperkeratosis, Dry skin OMIM:609180
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Thic... ORPHA:495
Epidermolytic Palmoplantar Keratoderma
Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma... ORPHA:2199
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ichthyosis, Ataxia, Parakeratosis, Dysmetria, Xerostomia, Acanthosis nigricans, Hyperkeratosis, D... OMIM:618527
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Cutaneous photosensitivity, Telangiectasia, Crusting erythematous dermatitis, Palmoplantar hyperk... ORPHA:158673
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis ORPHA:79148
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Transaldolase Deficiency
Edema, Telangiectasia, Hydrops fetalis, Premature skin wrinkling ORPHA:101028
Erythema Of Acral Regions
Erythema OMIM:227000
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Pemphigus Foliaceus
Skin vesicle, Pruritus, Crusting erythematous dermatitis, Scaling skin, Pustule, Erythema, Erythr... ORPHA:79481
Keratolytic Winter Erythema
Erythema OMIM:148370
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Hyperkeratosis, Pruritus, Skin vesicle ORPHA:254478
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperke... ORPHA:2200
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Palmoplantar erythema, Epidermal hyperkeratosis, Plantar hyperkeratosis OMIM:104100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... OMIM:613736
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Everted lower lip vermilion, Palmoplantar keratoderma, Abnormality of dental morphology ORPHA:2251
Sydenham Chorea
Unsteady gait, Erythema ORPHA:306731
Pili Torti-Onychodysplasia Syndrome
Ectodermal dysplasia, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma, Dry skin ORPHA:2890
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Ectodermal dysplasia, Dry skin OMIM:125640
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Pruritus, Dry skin, Eczema OMIM:618535
Familial Cold Urticaria
Erythema, Dehydration, Pruritus, Polydipsia, Urticaria ORPHA:47045
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion, Hyperkeratosis, Er... OMIM:242100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lack of skin elasticity, Dental crowding, Hypertriglyceridemia, Narrow mouth OMIM:615381
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Hydrops fetalis, Cutis laxa, Abnormality of subcutaneous fat tissue, Premature skin wrinkling, At... ORPHA:79325
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Congenital bullous ichthyosiform erythroderma, Thin upper lip vermilion, Palmo... OMIM:613576
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Protoporphyria, Erythropoietic, 1
Eczema, Edema, Erythema, Pruritus, Hypertriglyceridemia OMIM:177000
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Psoriasis 2
Parakeratosis, Scaling skin, Hyperkeratosis, Psoriasiform dermatitis OMIM:602723
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Ichthyosis, Inflammatory abnormality of the skin, De... OMIM:610768
Trichothiodystrophy 6, Nonphotosensitive
Ichthyosis, Dry skin, Mild intrauterine growth retardation, Broad-based gait OMIM:616943
Skin Fragility-Woolly Hair Syndrome
Palmoplantar erythema, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Fragile skin, Acan... OMIM:607655
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Classic Phenylketonuria
Lack of skin elasticity, Attention deficit hyperactivity disorder, Hyperphenylalaninemia, Eczema ORPHA:79254
Stiff Skin Syndrome
Lack of skin elasticity, Abnormal circulating lipid concentration, Thickened skin ORPHA:2833
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Skin ulcer, Fragile skin, Erythema, Telangiectasia of the skin ORPHA:542592
Peeling Skin Syndrome 4
Ichthyosis, Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma OMIM:607936
Werner Syndrome
Lack of skin elasticity, Skin ulcer, Neoplasm of the oral cavity, Miscarriage, Hyperkeratosis ORPHA:902
Prolidase Deficiency
Cutaneous photosensitivity, Pruritus, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosi... ORPHA:742
Riddle Syndrome
Dry skin, Ataxia OMIM:611943
Irida Syndrome
Pallor, Hyperkeratosis, Ichthyosis, Decreased circulating copper concentration ORPHA:209981
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Dry skin ORPHA:486815
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... OMIM:604117
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... OMIM:601952
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Lichen Planopilaris
Hyperkeratosis, Skin ulcer, Pruritus, Neoplasm of the oral cavity ORPHA:525
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Autosomal Erythropoietic Protoporphyria
Cutaneous photosensitivity, Eczema, Edema, Erythema, Pruritus ORPHA:79278
Hypotrichosis Simplex Of The Scalp
Pruritus, Parakeratosis, Scaling skin, Hyperkeratosis, Atopic dermatitis, Abnormality of the dent... ORPHA:90368
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Olmsted Syndrome 2
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Pa... OMIM:619208
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin, Umbilical hernia OMIM:274400
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Keratoderma Hereditarium Mutilans
Cleft palate, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderm... OMIM:602540
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Dermatitis Herpetiformis
Skin vesicle, Eczema, Edema, Erythema, Pruritus, Urticaria ORPHA:1656
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Hyperkeratosis OMIM:618625
Cole Disease
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal blood phosphate co... OMIM:615522
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Intrauterine growth retardation, Cutis laxa OMIM:616603
Sézary Syndrome
Pruritus, Edema, Erythroderma, Palmoplantar keratoderma, Dry skin ORPHA:3162
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Death in adolescence, Hyper... OMIM:620014
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Pruritus, Dry skin OMIM:105250
Myoclonic-Astatic Epilepsy
Hyperactivity, Premature skin wrinkling, Ataxia, Attention deficit hyperactivity disorder, Unstea... ORPHA:1942
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Follicular hyperkeratosis, Elevated circulating creatine kinase concentration ORPHA:300179
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Parakeratosis, Superficial dermal perivascular inflammat... ORPHA:284426
Pierpont Syndrome
Widely spaced teeth, Everted lower lip vermilion, Thin upper lip vermilion, Excessive wrinkling o... ORPHA:487825
Antisynthetase Syndrome
Lack of skin elasticity, Skin rash, Elevated circulating creatine kinase concentration, Edema, Xe... ORPHA:81
Lymphatic Malformation 4
Prominent superficial veins, Pedal edema, Hyperkeratosis, Lymphedema OMIM:615907
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis, Agitation OMIM:618339
Pityriasis Rubra Pilaris
Thickened skin, Ichthyosis, Pruritus, Abnormal oral cavity morphology, Eczema, Pustule, Subungual... ORPHA:2897
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Aicardi-Goutieres Syndrome 5
Scaling skin, Chilblains, Dry skin OMIM:612952
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
Flynn-Aird Syndrome
Carious teeth, Hyperkeratosis OMIM:136300
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis, Erythroderma OMIM:133200
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Dermatographic urticaria, Erythema, Angioedema, Cold urticaria OMIM:614468
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ichthyosis, Everted upper lip vermilion, Petechiae, Open mouth, Purpura, Nonimmun... OMIM:608013
Psoriasis 14, Pustular
Parakeratosis, Pustule, Psoriasiform dermatitis, Erythema OMIM:614204
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Decreased retinol-binding protein level, Follicular hyperkeratosis, Comedonal acne OMIM:615147
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Erythroderma, Wh... OMIM:604777
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczema, Erythema OMIM:254400
Netherton Syndrome
Ichthyosis, Erythroderma, Skin rash, Eczema, Congenital nonbullous ichthyosiform erythroderma, Ac... ORPHA:634
14Q11.2 Microdeletion Syndrome
High palate, Long philtrum, Deep philtrum, Everted lower lip vermilion, Narrow mouth, Exaggerated... ORPHA:261120
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Hyperkeratosis, Abnormal dental ... ORPHA:3019
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Erythema, Eczematoid dermatitis OMIM:147060
Olmsted Syndrome, X-Linked
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... OMIM:300918
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, High palate, Thick lower lip vermilion, Hypodontia, Short philtrum, Everted lower ... OMIM:618342
Cutis laxa, Eclabion, Short philtrum, Thin upper lip vermilion, Polyphagia, Smooth philtrum, Thic... ORPHA:397941
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... ORPHA:2025
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Broad-based gait OMIM:614450
Leri Pleonosteosis
Lack of skin elasticity, Thickened skin ORPHA:2900
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Inability to walk, Skin ulcer, Hyperkeratosis, Steppage gait, Penetrating foot ul... ORPHA:36386
Microcephalic Primordial Dwarfism, Montreal Type
Prematurely aged appearance, Dry skin, Premature graying of hair ORPHA:2617
Warty Dyskeratoma
Neoplasm of the tongue, Abnormal hard palate morphology, Epidermal thickening, Acrokeratosis, Abn... ORPHA:69745
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Hypodontia, Hyperkeratosis, Dysphagia, Palmoplantar... OMIM:616029
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Death in infancy, Intrauterine growth retardation, Hyperkeratosis, Dry skin OMIM:614576
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... OMIM:615508
Cutis Laxa, Autosomal Recessive, Type Iib
Lack of skin elasticity, High palate, Long philtrum, Redundant skin, Excessive wrinkled skin OMIM:612940
Rare Cutaneous Lupus Erythematosus
Cutaneous photosensitivity, Malar rash, Nail bed telangiectasia, Crusting erythematous dermatitis... ORPHA:535
Iga Pemphigus
Skin vesicle, Neutrophilic infiltration of the skin, Cutaneous abscess, Pustule, Oral mucosal bli... ORPHA:555905
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Ectodermal dysplasia, Dry skin OMIM:600906
Xeroderma Pigmentosum Variant
Cutaneous photosensitivity, Telangiectasia, Dry skin ORPHA:90342
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Everted lower lip vermilion, Thin vermilion border, Smooth philtrum ORPHA:73273
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Macs Syndrome
Irregular dentition, Recurrent aphthous stomatitis, Ichthyosis, High palate, Cutis laxa, Long phi... OMIM:613075
Proteus Syndrome
Open mouth, Hyperkeratosis OMIM:176920
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Ichthyosis, Dry skin ORPHA:177
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Urticaria ORPHA:703
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Orthokeratosis, Jaundice, Parakeratosis, Pruritus, Dry skin OMIM:607626
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Blepharochalasis, Hyperextensible skin, Gingival hyperkeratosis, Dermal translucency, Hypodontia,... OMIM:225410
Chronic Mucocutaneous Candidiasis
Pruritus, Skin rash, Skin ulcer, Erythema, Hyperkeratosis ORPHA:1334
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation, Abnormal oral cavity morphology ORPHA:704
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Acanthosis nigricans ORPHA:3085
Mednik Syndrome
Hyperkeratosis, Ichthyosis, Decreased circulating copper concentration, Decreased circulating cer... ORPHA:171851
Odontoonychodermal Dysplasia
Palmoplantar erythema, Hypergranulosis, Orthokeratosis, Palmoplantar hyperkeratosis, Plantar hype... OMIM:257980
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Erythema... ORPHA:90156
Intellectual Developmental Disorder, X-Linked 19
Thick lower lip vermilion, Everted lower lip vermilion, Dental crowding OMIM:300844
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis, Oral mucosal blisters, Abno... ORPHA:79397
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Striae distensae, Hyperextensible skin OMIM:130020
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity, Submucous cleft hard palate, Long philtrum, Abnormality of the dentition ORPHA:178303
Complex Regional Pain Syndrome
Pedal edema, Edema of the upper limbs, Dry skin, Erythema ORPHA:83452
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Chronic oral candidiasis, Eczema, Cutaneous abscess, Chronic mucocutaneous candidiasis, Dry skin,... OMIM:618282
Autosomal Dominant Prognathism
Everted lower lip vermilion, Open bite ORPHA:2964
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ectodermal dysplasia, Dry skin OMIM:129490
Pseudoxanthoma Elasticum
Lack of skin elasticity, Striae distensae, High palate, Hyperextensible skin, Skin rash, Pruritus... ORPHA:758
Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer, Telangiectasia of the skin ORPHA:2500
Darier Disease
Skin vesicle, Thickened skin, Pruritus, Acrokeratosis, Palmoplantar keratoderma, Subungual hyperk... ORPHA:218
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis, Edema, Erythema, Angioedema ORPHA:449285
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ... OMIM:148700
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin, Umbilical hernia OMIM:275100
Nicolaides-Baraitser Syndrome
Long philtrum, Wide mouth, Eczema, Everted lower lip vermilion, Smooth philtrum, Thin vermilion b... ORPHA:3051
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Neu-Laxova Syndrome
Lack of skin elasticity, Polyhydramnios, Abnormality of the philtrum, Ichthyosis, Bifid uvula, Su... ORPHA:2671
Congenital Heart Defects And Ectodermal Dysplasia
Attention deficit hyperactivity disorder, Dry skin OMIM:617364
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Delayed eruption of teeth, Hypercholesterolemia ORPHA:181393
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... ORPHA:2228
Darier-White Disease
Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyperkeratotic fra... OMIM:124200
Meige Disease
Pedal edema, Recurrent bacterial skin infections, Lymphedema, Edema of the dorsum of hands, Cobbl... ORPHA:90186
Developmental And Epileptic Encephalopathy 88
Hyperglutamatemia, Everted lower lip vermilion OMIM:618959
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Palmoplantar keratoderma, Skin ulcer, Erythema ORPHA:659
Ichthyosis Prematurity Syndrome
Polyhydramnios, Generalized ichthyosis, Dermatographic urticaria, Erythroderma, Pruritus, Follicu... OMIM:608649
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Palmoplantar keratoderma, Folliculitis OMIM:612843
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Erythema, Inflammatory abnormality of the skin ORPHA:79099
Pityriasis Rubra Pilaris
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:173200
Ectodermal dysplasia, Dry skin ORPHA:1660
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Palmoplantar hyperkeratosis, Flushing, Redundant skin, Erythema, Eczematoid dermatitis, Seborrhei... OMIM:259100
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity, High palate, Hyperlipidemia, Abnormality of the dentition ORPHA:90153
Dowling-Degos Disease
Skin vesicle, Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis ORPHA:79145
Ichthyosis, Congenital, Autosomal Recessive 4B
Everted lower lip vermilion, Neonatal death, Congenital ichthyosiform erythroderma, Death in infancy OMIM:242500
Pierpont Syndrome
Widely spaced teeth, Prominent median palatal raphe, Everted lower lip vermilion, Smooth philtrum... OMIM:602342
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Umbilical hernia ORPHA:1035
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Dry skin OMIM:617388
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Hypergranulosis ORPHA:79151
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Everted lower lip vermilion, Thin upper lip vermilion, Short philtrum, Wide mouth ORPHA:2429
Cdkl5-Deficiency Disorder
Everted lower lip vermilion, Deep philtrum, Thick vermilion border ORPHA:505652
Craniofaciofrontodigital Syndrome
Polyhydramnios, Palmoplantar cutis laxa, Cutis laxa, Pericardial effusion, Premature skin wrinkli... ORPHA:363705
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Everted lower lip vermilion, Oligodontia, Anodontia ORPHA:276630
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis, Oral leukoplakia OMIM:148500
Trichothiodystrophy 1, Photosensitive
Cutaneous photosensitivity, Telangiectasia, Death in infancy, Congenital nonbullous ichthyosiform... OMIM:601675
Noonan Syndrome 8
Polyhydramnios, Hyperextensible skin, Palmoplantar cutis laxa, Eczema, Pleural effusion, Hyperker... OMIM:615355
Jaundice, Excessive wrinkled skin ORPHA:79333
Sunct Syndrome
Facial erythema, Agitation, Flushing, Palpebral edema, Restlessness, Facial edema ORPHA:57145
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Palmoplantar keratoderma, Conjunctival telangiectasia, Dry skin OMIM:618373
Truncal ataxia, Premature skin wrinkling, Intrauterine growth retardation, Oligohydramnios ORPHA:263487
Developmental And Epileptic Encephalopathy 23
Everted lower lip vermilion, Short philtrum, Thick vermilion border OMIM:615859
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Orthokeratosis, Acne inversa, Short philtrum, Eczema, Subungual hyperkeratosis, Clef... OMIM:617337
Baralle-Macken Syndrome
Striae distensae, High, narrow palate, Acanthosis nigricans OMIM:619255
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Ataxia, Erythema OMIM:278760
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:281090
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis ORPHA:38
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Cerebral edema, Inability to walk, Pallor ORPHA:439218
Hyperkeratosis, Pruritus ORPHA:79358
Fixed Drug Eruption
Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis ORPHA:293812
Squalene Synthase Deficiency
Hypocholesterolemia, Cutaneous photosensitivity, Dry skin, Intrauterine growth retardation OMIM:618156
Kanzaki Disease
Petechiae, Lymphedema, Telangiectasia of the oral mucosa, Hyperkeratosis, Angiokeratoma corporis ... OMIM:609242
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... OMIM:618729
Omenn Syndrome
Thickened skin, Edema, Erythroderma, Pruritus, Dry skin ORPHA:39041
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perianal erythema, Perioral erythema, Erythroderma OMIM:614328
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Cofs Syndrome
Everted lower lip vermilion, Death in infancy ORPHA:1466
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Dry skin, Umbilical hernia ORPHA:95715
Polyarteritis Nodosa
Skin ulcer, Cutis marmorata, Erythema ORPHA:767
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Follicular hyperkeratosis OMIM:262020
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Hyperkeratosis, Telangiectasia, Telangiectasia of the skin ORPHA:79279
Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Short Syndrome
Prominent superficial veins, Premature skin wrinkling, Intrauterine growth retardation OMIM:269880
Hyperkeratotic papule, Pruritus, Abnormal oral cavity morphology, Lymphedema, Predominantly lower... ORPHA:182
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Ataxia, Perioral erythema, Lethargy, Dry skin OMIM:201100
Non-Distal Trisomy 10Q
Everted lower lip vermilion, High palate ORPHA:1695
Naegeli-Franceschetti-Jadassohn Syndrome
Palmoplantar hyperkeratosis, Punctate palmoplantar hyperkeratosis, Dry skin, Subungual hyperkerat... ORPHA:69087
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Olmsted Syndrome 1
Pruritus, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis, Palmoplant... OMIM:614594
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Facial erythema, Sclerodactyly, Scaling skin, Palmoplantar keratoderma, Poor wound h... ORPHA:1010
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin, Acanthosis nigricans OMIM:268020
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia OMIM:167200
Aarskog-Scott Syndrome
Cleft upper lip, Hyperextensible skin, Long philtrum, Delayed eruption of teeth, Everted lower li... ORPHA:915
Adiposis Dolorosa
Telangiectasia of the skin, Bruising susceptibility, Xerostomia, Recurrent skin infections, Dry skin ORPHA:36397
Radio-Tartaglia Syndrome
Striae distensae, Gait imbalance, Ataxia, Impulsivity, Attention deficit hyperactivity disorder, ... OMIM:619312
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Pruritus, Congenital ichthyosiform erythroderma, Conical primary incisor OMIM:602400
Distal Trisomy 6P
Dry skin, Intrauterine growth retardation ORPHA:1745
Maxillonasal Dysplasia
Striae distensae, Microdontia, Tooth agenesis, Cleft palate, Open bite ORPHA:1248
Familial Melanoma
Dry skin ORPHA:618
Autosomal Dominant Cerebellar Ataxia
Akinesia, Pseudobulbar paralysis, Choreoathetosis, Gait disturbance, Erythema, Hyperkeratosis, Pr... ORPHA:99
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Everted lower lip vermilion, Thin upper lip vermilion, Long philtrum, Wide mouth OMIM:619595
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Telangiectasia, Skin rash, Cutis marmorata, Livedo reticularis, Pustule, Pustular ras... OMIM:615934
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Everted upper lip vermilion, Microdontia, Hypodontia, Oligodontia, Anodontia, Ever... OMIM:224900
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Long philtrum, Bifid uvula, Everted lower lip vermilion, Downturned corners of mou... OMIM:618089
Follicular hyperkeratosis, Abnormality of the dentition ORPHA:573
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Cleft lip, Tented upper lip vermilion, Cleft palate OMIM:616898
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Sclerodactyly, Orthokeratotic hyperkeratosis, Hypercholesterolemia, Palmoplantar keratoderma, Hyp... OMIM:610644
Pemphigus Erythematosus
Acantholysis, Malar rash, Oral ulcer ORPHA:79480
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Short philtrum, Wide mouth, Death in infancy ORPHA:163966
Geroderma Osteodysplasticum
Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, Premature skin wrinkling, ... OMIM:231070
8Q12 Microduplication Syndrome
Everted lower lip vermilion, Narrow mouth, Attention deficit hyperactivity disorder, Long philtrum ORPHA:228399
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Ataxia, Erythema, Urticaria ORPHA:343
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Eczema, Tooth agenesis, Xerostomia, Hyperkeratosis, Abnormality... ORPHA:238468
Hypotrichosis And Recurrent Skin Vesicles
Angular cheilitis, Skin vesicle, Follicular hyperkeratosis OMIM:613102
Mitral Valve Prolapse 1
Striae distensae, High palate, High, narrow palate OMIM:157700
Subcorneal Pustular Dermatosis
Pustule, Pruritus, Erythema ORPHA:48377
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion, Thin upper lip ... OMIM:619736
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin, Acanthosis nigricans OMIM:262190
Fountain Syndrome
Spina bifida, Cutis marmorata, Spina bifida occulta, Erythema, Facial edema ORPHA:3219
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Hyperkeratosis, Gingival overgrowth ORPHA:1839
Milroy Disease
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis ORPHA:79452
Mucolipidosis Type Iv
Everted lower lip vermilion, Microdontia, Palmoplantar keratoderma ORPHA:578
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death, Natal tooth OMIM:609638
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Everted lower lip vermilion, Short philtrum, Attention deficit hyperactivity disorder, Long philtrum OMIM:619556
Aicardi-Goutieres Syndrome 1
Petechiae, Inability to walk, Chilblains, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jau... OMIM:225750
Juvenile Dermatomyositis
Cutaneous photosensitivity, Mucosal telangiectasiae, Skin rash, Skin ulcer, Palpebral edema, Eryt... ORPHA:93672
Dry skin ORPHA:300536
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Orthokeratosis, Parakeratosis, Erythema, Stillbirth, Hyperk... OMIM:308050
Agel Amyloidosis
Blepharochalasis, Cutis laxa, Dermatological manifestations of systemic disorders, Bruising susce... ORPHA:85448
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Refsum Disease
Ichthyosis, Dry skin, Ataxia ORPHA:773
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Pyoderma gangrenosum, Cystic acne, Erythema OMIM:608068
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Wide mouth OMIM:615279
Immunodeficiency 55
Ichthyosis, Eczema, Intrauterine growth retardation, Recurrent skin infections, Dry skin OMIM:617827
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Dry skin, Umbilical hernia ORPHA:226313
Leopard Syndrome 2
Dry skin OMIM:611554
Arthrogryposis Multiplex Congenita 5
Polyhydramnios, Akinesia, Death in infancy, Premature skin wrinkling, Intrauterine growth retarda... OMIM:618947
Hidrotic Ectodermal Dysplasia
Thickened skin, Hyperkeratotic papule, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratos... ORPHA:189
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Cerebral edema, Skin rash, Ataxia, Erythema, Lethargy, Death in childhood OMIM:618321
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Hyperkeratosis ORPHA:2611
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cutaneous photosensitivity, Skin rash, Ataxia, Prematurely aged appearance, Dry skin, Urticaria ORPHA:220295
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Dysdiadochokinesis, Reduced subcutaneous adipose tissue, Decre... OMIM:606721
Incontinentia Pigmenti
Skin rash, Skin ulcer, Gait disturbance, Spina bifida occulta, Attention deficit hyperactivity di... ORPHA:464
Bachmann-Bupp Syndrome
Polyhydramnios, Attention deficit hyperactivity disorder, Dry skin OMIM:619075
German Syndrome
High palate, Lymphedema, Everted lower lip vermilion, Dysphagia, Open mouth, Orofacial cleft ORPHA:2077
Pachyonychia Congenita
Angular cheilitis, Natal tooth, Advanced eruption of teeth, Palmar hyperkeratosis, Linear arrays ... ORPHA:2309
Geleophysic Dysplasia 1
Lack of skin elasticity, Thickened skin, Long philtrum, Wide mouth, Smooth philtrum OMIM:231050
Temple-Baraitser Syndrome
High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wide mouth, E... ORPHA:420561
Smith-Magenis Syndrome
Hyperactivity, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal insuffic... OMIM:182290
Tangier Disease
Hypertriglyceridemia, Dry skin OMIM:205400
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Everted lower lip vermilion OMIM:278200
Noonan Syndrome 13
Attention deficit hyperactivity disorder, Dry skin, Bruising susceptibility, Lymphedema OMIM:619087
Nicolaides-Baraitser Syndrome
Gait ataxia, Ichthyosis, Premature skin wrinkling, Eczema, Attention deficit hyperactivity disord... OMIM:601358
Severe Intellectual Disability And Progressive Spastic Paraplegia
Short philtrum, High palate, Everted upper lip vermilion, Wide mouth ORPHA:280763
Trichothiodystrophy 3, Photosensitive
Ichthyosis, Natal tooth, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Carious teet... OMIM:616395
Weill-Marchesani Syndrome 2
Lack of skin elasticity, Thickened skin, Narrow palate, Striae distensae, High palate, Abnormalit... OMIM:608328
2Q23.1 Microdeletion Syndrome
Hyperactivity, Everted lower lip vermilion, Polyphagia, Tented upper lip vermilion, Open mouth, M... ORPHA:228402
Angioedema, Hereditary, 1
Intestinal edema, Periorbital edema, Erythema, Pharyngeal edema, Laryngeal edema, Angioedema OMIM:106100
Hereditary Acrokeratotic Poikiloderma
Ichthyosis, Skin ulcer, Palmoplantar hyperkeratosis, Eczema, Pustule, Xerostomia, Erythema, Telan... ORPHA:2907
Xeroderma Pigmentosum
Cutaneous photosensitivity, Telangiectasia, Thickened skin, Ataxia, Conjunctival telangiectasia, ... ORPHA:910
Cardiofaciocutaneous Syndrome
Ichthyosis, Lymphedema, Redundant skin, Palmoplantar keratoderma, Hyperkeratosis, Dry skin, Exces... ORPHA:1340
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Striae distensae, Wide mouth, Thick lower lip vermilion, Macroglossia OMIM:300354
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Agitation, Oligohydramnios, Ataxia, Death in adolescence, Intrauterine growth ... OMIM:619229
Atypical Werner Syndrome
Lack of skin elasticity, Skin ulcer, Neoplasm of the oral cavity, Thin vermilion border, Hyperker... ORPHA:79474
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Short philtrum, Everted lower lip vermilion, Furrowed tongue, Tooth malposition ORPHA:1387
Immunoglobulin A Vasculitis
Skin rash, Skin ulcer, Purpura, Bruising susceptibility, Edema, Pustule, Erythema, Vascular skin ... ORPHA:761
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Ataxia, Progeroid facial appearance, Athetosis, Intrauterine growth retardatio... ORPHA:357058
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Ectodermal dysplasia, Dry skin OMIM:601701
Mednik Syndrome
Ichthyosis, Death in infancy, Erythema, Neonatal death, Death in childhood OMIM:609313
Adult-Onset Still Disease
Skin rash, Pruritus, Joint swelling, Erythema ORPHA:829
Poikiloderma With Neutropenia
Long philtrum, Skin rash, Plantar hyperkeratosis, Elevated circulating creatine kinase concentrat... OMIM:604173
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Hyperactivity, Long philtrum, Wide mouth, Deep philtrum, Everted lower lip vermilion, Downturned ... OMIM:619720
Hennekam-Beemer Syndrome
Skin vesicle, Thickened skin, Erythema, Telangiectasia of the skin, Pruritus, Urticaria ORPHA:2135
Noonan Syndrome 5
Polyhydramnios, Dry skin OMIM:611553
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer, Abnormality of the dentition ORPHA:1806
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Everted lowe... OMIM:618067
Pachyonychia Congenita 3
Gingivitis, Plantar hyperkeratosis, Palmar hyperkeratosis, Oral leukoplakia, Furrowed tongue, Pal... OMIM:615726
Corneodermatoosseous Syndrome
Palmoplantar keratoderma, Thickened skin, Erythema ORPHA:3194
Hengel-Maroofian-Schols Syndrome
Tooth malposition, Widely spaced teeth, Short philtrum, Everted lower lip vermilion, Open mouth, ... OMIM:619641
Cranioectodermal Dysplasia
Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Abnormality of the dentition, ... ORPHA:1515
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion,... ORPHA:884
Rheumatic Fever
Gait disturbance, Erythema, Pallor ORPHA:3099
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Dry skin OMIM:300860
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Long philtrum, Wide mouth, Thick lower lip vermilion, Everted lower lip vermilion,... OMIM:620075
Mucosal telangiectasiae, Premature graying of hair, Gait disturbance, Ataxia, Telangiectasia of t... ORPHA:100
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Everted lower lip vermilion, Abnormal spaced incisors, Short philtrum, Thick vermilion border ORPHA:411986
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Hyperextensible skin, Petechiae OMIM:225310
Spinocerebellar Ataxia 34
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Epidermal hyperkeratosis, Ataxia, Erythroderma OMIM:133190
Uremic Pruritus
Inflammatory abnormality of the skin, Generalized abnormality of skin, Recurrent skin infections,... ORPHA:94059
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Long philtrum OMIM:615225
Netherton Syndrome
Hypernatremic dehydration, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Eryth... OMIM:256500
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling, Scleroderma, Hypercholesterolemia, Hypertrig... ORPHA:363618
Ameloonychohypohidrotic Syndrome
Dry skin, Seborrheic dermatitis OMIM:104570
Tempi Syndrome
Facial erythema, Ascites, Telangiectasia, Transudative pleural effusion ORPHA:284227
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Stomatitis, Pustule, Joint swelling, Elevated circulating C-reactive protein concentra... OMIM:612852
Jung Syndrome
Dry skin ORPHA:2321
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,... ORPHA:1193
Isolated Thyroid-Stimulating Hormone Deficiency
Attention deficit hyperactivity disorder, Hypercholesterolemia, Prolonged neonatal jaundice, Leth... ORPHA:90674
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Striae distensae, Purpura, Bruising susceptibility, Ecchymosis, Edema, Poor woun... OMIM:219090
Toxic Epidermal Necrolysis
Skin ulcer, Erythema, Dysphagia, Acantholysis, Polydipsia ORPHA:537
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Broad-based gait, Umbilical hernia, Facial wrinkling ORPHA:93932
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted lower lip vermilion, Microdontia, Everted upper lip vermilion, Delayed eruption of teeth ORPHA:181
Acrodermatitis Enteropathica
Skin ulcer, Pustule, Generalized abnormality of skin, Erythema, Dry skin ORPHA:37
Xfe Progeroid Syndrome
Cutaneous photosensitivity, Death in adolescence, Ascites, Prematurely aged appearance, Dry skin OMIM:610965
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Ectodermal dysplasia, Neonatal death, Hydromyelia, Death in infancy, Ichthyosi... OMIM:308205
Sialidosis Type 1
Vascular skin abnormality, Hyperkeratosis, Gait disturbance, Ataxia ORPHA:812
Familial Cervical Artery Dissection
Abnormal circulating lipid concentration, Striae distensae ORPHA:36382
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis, Palpebral e... OMIM:137940
Koolen-De Vries Syndrome
Ichthyosis, Narrow palate, Microdontia, Hypodontia, Everted lower lip vermilion, Overfriendliness... ORPHA:96169
Stuve-Wiedemann Syndrome 1
Oligohydramnios, Premature skin wrinkling, Death in infancy, Dysphagia OMIM:601559
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae, Increased circulating cortisol level, Agitation, Primary hypercortisolism, Para... OMIM:610475
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis ORPHA:2698
Microscopic Polyangiitis
Subcutaneous hemorrhage, Skin rash, Skin ulcer, Cutis marmorata, Erythema ORPHA:727
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Everted lower lip vermilion, Ichthyosis OMIM:242510
Intellectual Developmental Disorder, Autosomal Recessive 35
Everted lower lip vermilion, Thin upper lip vermilion, Downturned corners of mouth, Long philtrum OMIM:615162
Immunodeficiency 23
Eczema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Ataxia, Erythema, Molluscum co... OMIM:615816
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Enamel hypoplasia, Skin vesicle, Hyperkeratotic papule, Pruritus, Oral mucosal blisters, Carious ... ORPHA:79410
Donohue Syndrome
Wide mouth, Thick lower lip vermilion, Acanthosis nigricans, Hyperkeratosis, Gingival overgrowth OMIM:246200
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Increased number of skin folds, Cutis laxa ORPHA:436274
Mesoaxial Hexadactyly And Cardiac Malformation
Everted lower lip vermilion OMIM:249670
Thanatophoric Dysplasia Type 1
Polyhydramnios, Redundant skin, Acanthosis nigricans, Increased nuchal translucency, Excessive wr... ORPHA:1860
Kleefstra Syndrome 2
Everted lower lip vermilion, Bifid uvula OMIM:617768
Dry skin, Ataxia ORPHA:280071
Non-Distal Trisomy 13Q
High palate, Long philtrum, Everted lower lip vermilion, Thin vermilion border, Abnormality of th... ORPHA:1702
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
Long philtrum, Short philtrum, Everted lower lip vermilion, High, narrow palate, Thick vermilion ... OMIM:619880