Gene Summary

Name:
patatin-like phospholipase domain containing 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

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
phenotypes
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmoplantar kera... 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
phenotypes
Matching phenotypes Source
Ulerythema Ophryogenesis
Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hype... ORPHA:3406
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Porokeratosis, Pruritus, Hyperkerat... ORPHA:737
Acquired Ichthyosis
Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar... ORPHA:454
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Erythema, Palmoplantar hyperkeratosis OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis OMIM:617525
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:146750
Lamellar Ichthyosis
Everted lower lip vermilion, Abnormality of the dentition, Dehydration, Lack of skin elasticity, ... ORPHA:313
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, Excessive skin wrinkling on ... ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis OMIM:617571
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema, Pruritus ORPHA:2337
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Mal De Meleda
Inflammatory abnormality of the skin, Erythema, Ichthyosis, Superficial dermal perivascular infla... ORPHA:87503
Huriez Syndrome
Palmoplantar keratoderma, Lack of skin elasticity, Dry skin, Sclerodactyly ORPHA:384
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling ... ORPHA:530838
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:615522
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Pruritus, Follicular hyperkeratosis ORPHA:79100
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Classic Mycosis Fungoides
Skin rash, Eczema, Erythema, Dry skin, Hyperkeratosis, Pruritus, Edema, Skin ulcer ORPHA:2584
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Ichthyosis Vulgaris
Ichthyosis, Eczematoid dermatitis, Dry skin OMIM:146700
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... ORPHA:64745
Anonychia With Flexural Pigmentation
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Dermatitis, Atopic
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Ichthyos... OMIM:603165
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Eclabion, Dry skin, Generalized hyperkeratosis, Scaling skin, Generalized ichthyosis ORPHA:2269
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
Erythrokeratodermia Variabilis
Skin rash, Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous phot... ORPHA:317
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Ichthyosis, Dry skin ORPHA:2271
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Bathing Suit Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Eclabion, Palmoplantar hyperkeratosis, Ichthyos... ORPHA:100976
Mal De Meleda
Perioral erythema, Ichthyosis, Congenital symmetrical palmoplantar keratosis OMIM:248300
Ataxia-Photosensitivity-Short Stature Syndrome
Urticaria, Ataxia, Dry skin, Gait disturbance, Cutaneous photosensitivity ORPHA:1184
Sjögren-Larsson Syndrome
Urticaria, Erythema, Dry skin, Hyperkeratosis, Ichthyosis ORPHA:816
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Edema ... ORPHA:281127
Dermatoleukodystrophy
Thickened skin, Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin ORPHA:461
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Eclabion, Erythema, Hyperkeratosis, Ichthyosis,... OMIM:606545
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Morphea, Inflammatory abnormality of the skin, Erythema, Scl... ORPHA:90158
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Erythema, Pruritus ORPHA:33314
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Oral mucosal blisters, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi... ORPHA:79399
Vibratory Urticaria
Facial erythema, Urticaria, Flushing OMIM:125630
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Narrow mouth, Hyperlipoproteinemia, Abnormal circulating lipid concentration, Lack of skin elasti... ORPHA:1979
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal oral mu... ORPHA:79147
Elastoderma
Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling ORPHA:228240
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus OMIM:617920
Costello Syndrome
Narrow palate, Macroglossia, Abnormality of the dentition, Lack of skin elasticity, Redundant ski... ORPHA:3071
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Erythema, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Congenital Lethal Erythroderma
Urticaria, Congenital exfoliative erythroderma, Dry skin, Ichthyosis, Death in infancy ORPHA:1954
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Oral mucosal blisters, Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:89838
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Death in infancy OMIM:219095
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Urticaria, Erythema, Edema OMIM:154800
Ichthyosis, Congenital, Autosomal Recessive 6
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Dry skin, Hyperkeratosis, Scali... OMIM:612281
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Acral Peeling Skin Syndrome
Eczema, Erythema, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin ORPHA:263534
Cutaneous Mastocytoma
Telangiectasia of the skin, Flushing, Dermatographic urticaria, Telangiectasia macularis eruptiva... ORPHA:79455
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmoplantar kera... OMIM:615024
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Skin vesicle, Skin fragility with non-scarring blistering, Parakeratosis, Erythema migrans ORPHA:158681
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin OMIM:614457
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis, Ichthyosis, Edema, Palmoplantar keratoderma ORPHA:455
Ichthyosis, Congenital, Autosomal Recessive 9
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Eclabion, Hyperkeratosis, Eryth... OMIM:615023
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Parakeratosis ORPHA:83453
Cutaneous Collagenous Vasculopathy
Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Prominent superficial blood vessels... ORPHA:280779
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar keratoderma, Parakeratosis OMIM:615821
Erosive Pustular Dermatosis Of The Scalp
Erythema, Pustule ORPHA:222
Congenital Disorder Of Glycosylation, Type If
Ataxia, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma OMIM:609180
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema, Thickened skin ORPHA:31112
Quinquaud Folliculitis Decalvans
Erythema, Pustule, Recurrent skin infections ORPHA:346
Chilblain Lupus
Discoid lupus rash, Pruritis on hand, Inflammatory abnormality of the skin, Skin rash, Cutis marm... ORPHA:90280
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Cutaneous Small Vessel Vasculitis
Urticaria, Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Purpura ORPHA:889
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Cutaneous photosensitivity, Ichthyosis, Skin ulcer, Palmoplantar keratoderma, Ery... ORPHA:312
Harlequin Ichthyosis
Eclabion, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Congenital ichthyosiform erythro... ORPHA:457
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Bazex Syndrome
Acanthosis nigricans, Hyperkeratosis, Scaling skin, Pruritus, Edema, Palmoplantar keratoderma, Li... ORPHA:166113
Ectodermal Dysplasia/Short Stature Syndrome
Dysphagia, Hyperkeratosis, Enamel hypoplasia, Hypodontia OMIM:616029
Maculopapular Cutaneous Mastocytosis
Flushing, Dermatographic urticaria, Generalized abnormality of skin, Erythema, Darier's sign, Pru... ORPHA:79457
Uv-Sensitive Syndrome 3
Telangiectasia, Cutaneous photosensitivity, Dry skin OMIM:614640
Spinocerebellar Ataxia Type 34
Urticaria, Progressive cerebellar ataxia, Dysdiadochokinesis, Dry skin, Gait disturbance ORPHA:1955
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Narrow mouth, Lack of skin elasticity, Hypertriglyceridemia, Scleroderma, Dental crowding OMIM:615381
Keratoderma Hereditarium Mutilans With Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Palmoplantar hyperkeratosis, Hy... ORPHA:79395
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Eczema, Dry skin, Hyperkeratosis, Ichthyosis, Dysphagia OMIM:612379
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Dry skin, Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma OMIM:308800
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion, Palmoplantar hyper... OMIM:242300
Familial Benign Chronic Pemphigus
Skin vesicle, Acantholysis, Hyperkeratosis, Erythema ORPHA:2841
Uv-Sensitive Syndrome 1
Telangiectasia, Cutaneous photosensitivity, Dry skin OMIM:600630
Lipoid Proteinosis
High palate, Pustule, Abnormality of the gingiva, Abnormal oral mucosa morphology, Hyperkeratosis... ORPHA:530
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Dysmetria, Acanthosis nigricans, Xerostomia, Dry skin, Hyperkeratosis, Ichthyosis, Parake... OMIM:618527
Epidermolytic Palmoplantar Keratoderma
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Epiderma... ORPHA:2199
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Palmar hyperkeratosis, Recurrent cutaneous fungal infections... ORPHA:495
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Transaldolase Deficiency
Telangiectasia, Hydrops fetalis, Edema, Premature skin wrinkling ORPHA:101028
Erythema Of Acral Regions
Erythema OMIM:227000
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Fragile skin, Palmoplantar hyperkeratosis, Cutaneous photosensitivity, Crusting erythem... ORPHA:158673
Keratolytic Winter Erythema
Erythema OMIM:148370
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology, Hyperkeratosis, Pruritus ORPHA:254478
Focal Palmoplantar And Gingival Keratoderma
Gingival overgrowth, Gingival hyperkeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma,... ORPHA:2200
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Sydenham Chorea
Erythema, Unsteady gait ORPHA:306731
Pemphigus Foliaceus
Pustule, Erythema, Acantholysis, Scaling skin, Pruritus, Crusting erythematous dermatitis, Erythr... ORPHA:79481
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Abnormality of dental morphology, Everted lower lip vermilion ORPHA:2251
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis, Palmoplantar erythema OMIM:104100
Bullous Impetigo
Recurrent bacterial skin infections, Erythema, Pustule ORPHA:36237
Pili Torti-Onychodysplasia Syndrome
Eczema, Dry skin, Palmoplantar keratoderma, Generalized keratosis follicularis, Ectodermal dysplasia ORPHA:2890
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion, Erythema, Hyperker... OMIM:242100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Dermoodontodysplasia
Dry skin, Ectodermal dysplasia OMIM:125640
Familial Cold Urticaria
Polydipsia, Urticaria, Dehydration, Erythema, Pruritus ORPHA:47045
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
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Erythema, Angioedema, Laryngeal edema ORPHA:100057
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Hyperkeratosis, Scaling skin, Pruritus, Parakeratosis ORPHA:90368
Protoporphyria, Erythropoietic, 1
Eczema, Erythema, Hypertriglyceridemia, Pruritus, Edema OMIM:177000
Phenylketonuria
Scleroderma, Eczema, Dry skin OMIM:261600
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Eczema, Dry skin, Edema OMIM:612947
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion,... OMIM:613576
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Dry skin, Hyperkeratosis, Ichthyosis, Death in infancy, Inc... OMIM:610768
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Psoriasis 2
Psoriasiform dermatitis, Hyperkeratosis, Scaling skin, Parakeratosis OMIM:602723
Alg8-Cdg
Ataxia, Cutis laxa, Premature skin wrinkling, Oligohydramnios, Hydrops fetalis, Edema, Abnormalit... ORPHA:79325
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Stiff Skin Syndrome
Lack of skin elasticity, Thickened skin, Abnormal circulating lipid concentration ORPHA:2833
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Werner Syndrome
Miscarriage, Lack of skin elasticity, Neoplasm of the oral cavity, Hyperkeratosis, Skin ulcer ORPHA:902
Skin Fragility-Woolly Hair Syndrome
Palmoplantar erythema, Palmoplantar scaling skin, Fragile skin, Palmoplantar hyperkeratosis, Acan... OMIM:607655
Necrobiosis Lipoidica
Telangiectasia of the skin, Inflammatory abnormality of the skin, Erythema, Fragile skin, Skin ulcer ORPHA:542592
Peeling Skin Syndrome 4
Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma OMIM:607936
Riddle Syndrome
Ataxia, Dry skin OMIM:611943
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis, Decreased circulating copper concentration ORPHA:209981
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Trichothiodystrophy 6, Nonphotosensitive
Mild intrauterine growth retardation, Broad-based gait, Ichthyosis, Dry skin OMIM:616943
Prolidase Deficiency
Erythema, Dry skin, Hyperkeratosis, Cutaneous photosensitivity, Crusting erythematous dermatitis,... ORPHA:742
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... OMIM:601952
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Scaling skin, Dry skin, Cutis laxa OMIM:105250
Autosomal Erythropoietic Protoporphyria
Eczema, Erythema, Cutaneous photosensitivity, Edema, Pruritus ORPHA:79278
Grubben-De Cock-Borghgraef Syndrome
Eczema, Dry skin ORPHA:2101
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, ... OMIM:602540
Olmsted Syndrome 2
Cheilitis, Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmop... OMIM:619208
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Cleft palate, Ichthyosis ORPHA:494
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion ORPHA:2016
Dermatitis Herpetiformis
Urticaria, Eczema, Erythema, Pruritus, Edema, Skin vesicle ORPHA:1656
Leopard Syndrome 3
Epidermal hyperkeratosis, Hyperkeratosis, Dry skin OMIM:613707
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Lichen Planopilaris
Skin ulcer, Neoplasm of the oral cavity, Hyperkeratosis, Pruritus ORPHA:525
Sézary Syndrome
Dry skin, Edema, Pruritus, Erythroderma, Palmoplantar keratoderma ORPHA:3162
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Conical tooth OMIM:618625
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin, Umbilical hernia OMIM:274400
Pierpont Syndrome
Long upper lip, Everted lower lip vermilion, Thin vermilion border, Excessive wrinkling of palmar... ORPHA:487825
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Ichthyosis, Jaundice, Parakeratosis OMIM:607626
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Elevated circulating creatine kinase concentration, Follicular hyperkeratosis ORPHA:300179
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Polyhydramnios, Hyperkeratosis, ... OMIM:620014
Aicardi-Goutieres Syndrome 5
Chilblains, Scaling skin, Dry skin OMIM:612952
Antisynthetase Syndrome
Skin rash, Lack of skin elasticity, Elevated circulating creatine kinase concentration, Xerostomi... ORPHA:81
Psoriasis 14, Pustular
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis OMIM:614204
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Angular cheilitis OMIM:616295
Pityriasis Rubra Pilaris
Pustule, Abnormal oral cavity morphology, Eczema, Subungual hyperkeratosis, Ichthyosis, Pruritus,... ORPHA:2897
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Soft, doughy skin, Everted lower lip ve... OMIM:225410
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Elevated creatine kinase after exercise, Psoriasiform lesion, Superficial dermal perivas... ORPHA:284426
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Flynn-Aird Syndrome
Hyperkeratosis, Carious teeth OMIM:136300
Granulomatous Slack Skin
Redundant skin, Erythema, Cutis laxa ORPHA:33111
Cutis Laxa, Autosomal Dominant 3
Intrauterine growth retardation, Cutis laxa, Premature skin wrinkling OMIM:616603
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis OMIM:618546
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Familial Cold Autoinflammatory Syndrome 3
Dermatographic urticaria, Erythema, Angioedema, Cold urticaria, Pruritus OMIM:614468
Gaucher Disease, Perinatal Lethal
Narrow mouth, Petechiae, Congenital nonbullous ichthyosiform erythroderma, Everted lower lip verm... OMIM:608013
Netherton Syndrome
Urticaria, Congenital nonbullous ichthyosiform erythroderma, Skin rash, Eczema, Dehydration, Acan... ORPHA:634
Ichthyosis, Congenital, Autosomal Recessive 5
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, White scaling skin, Erythroderm... OMIM:604777
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Erythema, Pruritus OMIM:254400
Classic Phenylketonuria
Lack of skin elasticity, Eczema, Hyperphenylalaninemia ORPHA:79254
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Hyperkeratosis, Abnormal dental ... ORPHA:3019
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Long philtrum, Deep philtrum, Exaggerated... ORPHA:261120
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Erythema, Chronic mucocutaneous candidiasis, Cutaneous abscess OMIM:147060
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:300918
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Man1B1-Cdg
Cutis laxa, Eclabion, Short philtrum, Polyphagia, Thick vermilion border, Thin upper lip vermilio... ORPHA:397941
Warty Dyskeratoma
Epidermal thickening, Abnormality of the alveolar ridges, Acrokeratosis, Abnormal hard palate mor... ORPHA:69745
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Prematurely aged appearance, Dry skin ORPHA:2617
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Dry skin OMIM:614450
Leri Pleonosteosis
Lack of skin elasticity, Thickened skin ORPHA:2900
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Hyperkeratosis, Death in infancy, Intrauterine growth retardation, Peau d'orange OMIM:614576
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Inability to walk, Poor wound healing, Hyperkeratosis, Skin ulcer, Penetrating fo... ORPHA:36386
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Excessive wrinkled skin, Lack of skin elasticity, Redundant skin, Long philtrum OMIM:612940
Rare Cutaneous Lupus Erythematosus
Telangiectasia of the skin, Urticaria, Vascular skin abnormality, Discoid lupus rash, Facial edem... ORPHA:535
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles OMIM:227210
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin, Ectodermal dysplasia OMIM:600906
Rhizomelic Chondrodysplasia Punctata
Ichthyosis, Dry skin, Spina bifida occulta ORPHA:177
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Recurrent skin infections, Hypernatremia, Acantholysis, Erythroderma, Palmoplanta... OMIM:615508
Macs Syndrome
High palate, Gingival overgrowth, Cutis laxa, Soft skin, Eclabion, Redundant skin, Palpebral edem... OMIM:613075
Proteus Syndrome
Hyperkeratosis, Open mouth OMIM:176920
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Thin vermilion border, Smooth philtrum, Everted lower lip vermilion ORPHA:73273
Iga Pemphigus
Oral mucosal blisters, Pustule, Acantholysis, Pruritus, Skin vesicle, Cutaneous abscess, Neutroph... ORPHA:555905
Xeroderma Pigmentosum Variant
Telangiectasia, Cutaneous photosensitivity, Dry skin ORPHA:90342
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Short philtrum, Acne inversa, Hyperkeratosis, Natal tooth OMIM:617337
Odontoonychodermal Dysplasia
Orthokeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Erythema, Dry skin, Palmoplantar h... OMIM:257980
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis OMIM:604117
Myoclonic-Astatic Epilepsy
Ataxia, Unsteady gait, Premature skin wrinkling ORPHA:1942
Bullous Pemphigoid
Urticaria, Eczema, Erythema, Psoriasiform dermatitis ORPHA:703
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Lack of skin elasticity, Long philtrum, Submucous cleft hard palate ORPHA:178303
Intellectual Developmental Disorder, X-Linked 19
Dental crowding, Thick lower lip vermilion, Everted lower lip vermilion OMIM:300844
Chronic Mucocutaneous Candidiasis
Skin rash, Erythema, Hyperkeratosis, Pruritus, Skin ulcer ORPHA:1334
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Mednik Syndrome
Ichthyosis, Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulat... ORPHA:171851
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Lack of faci... ORPHA:90156
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Oral mucosal blisters, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi... ORPHA:79397
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Acanthosis nigricans, Dry skin ORPHA:3085
Complex Regional Pain Syndrome
Edema of the upper limbs, Pedal edema, Erythema, Dry skin ORPHA:83452
Pseudoxanthoma Elasticum
High palate, Skin rash, Excessive wrinkled skin, Lack of skin elasticity, Striae distensae, Pruri... ORPHA:758
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin, Ectodermal dysplasia OMIM:129490
Autosomal Dominant Prognathism
Everted lower lip vermilion, Open bite ORPHA:2964
Pemphigus Vulgaris
Acantholysis, Abnormal oral cavity morphology, Recurrent cutaneous abscess formation ORPHA:704
Darier Disease
Acrokeratosis, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Pruritus, Skin vesic... ORPHA:218
Acrogeria
Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer ORPHA:2500
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Dry skin, Follicular hyperkeratosis, Scaling skin, Umbilical hernia, Erythroderma, Oligohydramnio... OMIM:308205
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of ... OMIM:148700
Myxedema
Dry skin, Lethargy OMIM:255900
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Palmoplantar keratoderma, Erythema, Thickened skin ORPHA:659
Neu-Laxova Syndrome
Cleft palate, Everted lower lip vermilion, Lack of skin elasticity, Bifid uvula, Polyhydramnios, ... ORPHA:2671
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... ORPHA:90186
Darier-White Disease
Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis, Enlargement of parotid gland, Pr... OMIM:124200
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Hypercholesterolemia ORPHA:181393
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Erythema, Angioedema, Ecchymosis, Edema ORPHA:449285
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Ichthyosis Prematurity Syndrome
Dermatographic urticaria, Follicular hyperkeratosis, Polyhydramnios, Pruritus, Erythroderma, Gene... OMIM:608649
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Nicolaides-Baraitser Syndrome
Wide mouth, High, narrow palate, Everted lower lip vermilion, Thin vermilion border, Excessive wr... ORPHA:3051
Oculotrichodysplasia
Scaling skin, Dry skin OMIM:257960
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Developmental And Epileptic Encephalopathy 88
Hyperglutamatemia, Everted lower lip vermilion OMIM:618959
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Persistence of primary teeth, Hypodontia, Everted lower li... OMIM:618342
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Umbilical hernia ORPHA:1035
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Palmoplantar keratoderma, Folliculitis OMIM:612843
Dermoodontodysplasia
Dry skin, Ectodermal dysplasia ORPHA:1660
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Flushing, Eczematoid dermatitis, Redundant skin, Erythema, Palmoplantar hyperkeratosis, Seborrhei... OMIM:259100
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Erythema, Pruritus ORPHA:79099
Dowling-Degos Disease
Acne inversa, Hyperkeratosis, Pruritus, Hyperkeratotic papule, Skin vesicle ORPHA:79145
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Pityriasis Rubra Pilaris
Orthokeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Pierpont Syndrome
Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin vermilion borde... OMIM:602342
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin, Umbilical hernia, Prolonged neonatal jaundice ORPHA:95715
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis OMIM:617388
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Short philtrum, Thin upper lip vermilion, Everted lower lip vermilion ORPHA:2429
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Abnormality of the dentition, Lack of skin elasticity, Hyperlipidemia ORPHA:90153
Trichothiodystrophy 1, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Dry skin, Hyperkeratosis, Cutaneous photosensit... OMIM:601675
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Anodontia, Oligodontia, Everted lower lip vermilion ORPHA:276630
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Wide mouth, Gingival overgrowth, Short philtrum, Deep philtrum, Everted upper lip vermilion, Smoo... OMIM:618381
Noonan Syndrome 8
Palmoplantar cutis laxa, Eczema, Polyhydramnios, Hyperkeratosis, Pleural effusion, Hyperextensibl... OMIM:615355
Craniofaciofrontodigital Syndrome
Lower eyelid edema, Cutis laxa, Palmoplantar cutis laxa, Polyhydramnios, Prominent superficial ve... ORPHA:363705
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Bone Marrow Failure Syndrome 4
Eczema, Dry skin OMIM:618116
Cog7-Cdg
Excessive wrinkled skin, Jaundice ORPHA:79333
Baralle-Macken Syndrome
Acanthosis nigricans, Striae distensae, High, narrow palate OMIM:619255
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Kanzaki Disease
Dry skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis, Angiokeratoma co... OMIM:609242
Olmsted Syndrome 1
Palmoplantar keratoderma, Subungual hyperkeratosis, Pruritus, Parakeratosis OMIM:614594
Cdkl5-Deficiency Disorder
Thick vermilion border, Deep philtrum, Everted lower lip vermilion ORPHA:505652
Cog5-Cdg
Oligohydramnios, Intrauterine growth retardation, Truncal ataxia, Premature skin wrinkling ORPHA:263487
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Cutaneous photosensitivity, Erythema OMIM:278760
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Squalene Synthase Deficiency
Hypocholesterolemia, Cutaneous photosensitivity, Intrauterine growth retardation, Dry skin OMIM:618156
Porokeratosis
Hyperkeratosis, Pruritus ORPHA:79358
Omenn Syndrome
Dry skin, Edema, Pruritus, Erythroderma, Thickened skin ORPHA:39041
Glutamine Deficiency, Congenital
Erythema, Neonatal death OMIM:610015
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Short Syndrome
Intrauterine growth retardation, Premature skin wrinkling OMIM:269880
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perioral erythema, Erythroderma, Perianal erythema OMIM:614328
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Inability to walk, Pallor, Cerebral edema ORPHA:439218
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat... ORPHA:69087
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Telangiectasia, Hyperkeratosis, Lymphedema ORPHA:79279
Cofs Syndrome
Death in infancy, Everted lower lip vermilion ORPHA:1466
Chromomycosis
Predominantly lower limb lymphedema, Abnormal oral cavity morphology, Hyperparakeratosis, Hyperke... ORPHA:182
Polyarteritis Nodosa
Skin ulcer, Cutis marmorata, Erythema ORPHA:767
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Follicular hyperkeratosis OMIM:262020
Fixed Drug Eruption
Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis ORPHA:293812
Non-Distal Trisomy 10Q
High palate, Everted lower lip vermilion ORPHA:1695
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Microdontia, Striae distensae ORPHA:1248
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Ataxia, Dry skin, Perianal erythema, Lethargy OMIM:201100
Oral Erosive Lichen
Erythema, Dry skin ORPHA:31142
Popov-Chang syndrome
Hyperkeratosis, Dry skin OMIM:618428
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sclerodactyly, Poor wound healing, Dry skin, Facial erythema, Scaling skin, Meningocele, Palmopla... ORPHA:1010
Adiposis Dolorosa
Telangiectasia of the skin, Bruising susceptibility, Recurrent skin infections, Xerostomia, Dry skin ORPHA:36397
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma, Pruritus, Conical primary incisor OMIM:602400
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anodontia, Hypodontia, Everted lower lip vermilion, Oligodontia, Periorbital wrinkles, Microdonti... OMIM:224900
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Skin rash, Cutis marmorata, Erythema, Pustular rash, Livedo reticularis, Malar rash, Tel... OMIM:615934
Distal Trisomy 6P
Intrauterine growth retardation, Dry skin ORPHA:1745
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Wide mouth, Thin upper lip vermilion, Long philtrum, Everted lower lip vermilion OMIM:619595
Familial Melanoma
Dry skin ORPHA:618
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Short philtrum, Hyperkeratosis, Death in infancy ORPHA:163966
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Acanthosis nigricans, Dry skin OMIM:268020
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Oral leukoplakia, Follicular hyperkeratosis OMIM:167200
Monilethrix
Abnormality of the dentition, Follicular hyperkeratosis ORPHA:573
Autosomal Dominant Cerebellar Ataxia
Akinesia, Progressive cerebellar ataxia, Pseudobulbar paralysis, Erythema, Gait disturbance, Hype... ORPHA:99
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
High palate, Everted lower lip vermilion OMIM:617804
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Fountain Syndrome
Facial edema, Cutis marmorata, Erythema, Spina bifida occulta, Spina bifida ORPHA:3219
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Urticaria, Erythema, Purpura, Acrocyanosis ORPHA:343
Mucolipidosis Type Iv
Palmoplantar keratoderma, Microdontia, Everted lower lip vermilion ORPHA:578
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Immunodeficiency 55
Recurrent skin infections, Eczema, Dry skin, Ichthyosis, Intrauterine growth retardation OMIM:617827
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Pruritus, Hyperkeratotic papule, Skin vesicle ORPHA:79410
Mitral Valve Prolapse 1
High palate, Striae distensae, High, narrow palate OMIM:157700
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Acanthosis nigricans, Dry skin OMIM:262190
Milroy Disease
Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis, Pedal edema, Lymphedema ORPHA:79452
Subcorneal Pustular Dermatosis
Erythema, Pustule, Pruritus ORPHA:48377
Geroderma Osteodysplasticum
Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, Cutis laxa, Premature skin... OMIM:231070
Pemphigus Erythematosus
Malar rash, Acantholysis, Oral ulcer ORPHA:79480
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Sclerodactyly, Premature loss of permanent teeth, Hypertriglyceridemia, Hypercholesterolemia, Pal... OMIM:610644
Refsum Disease
Ataxia, Ichthyosis, Dry skin ORPHA:773
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Everted lower lip vermilion, Short philtrum, Cleft lip, Tented upper lip vermilion OMIM:616898
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Hyperkeratosis, Furrowed tongue ORPHA:1839
Hypohidrotic Ectodermal Dysplasia
Tooth agenesis, Abnormality of the dentition, Eczema, Xerostomia, Dry skin, Hyperkeratosis, Thick... ORPHA:238468
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Orthokeratosis, Congenital ichthyosiform erythroderma, Eryt... OMIM:308050
Arthrogryposis Multiplex Congenita 5
Akinesia, Polyhydramnios, Death in infancy, Umbilical hernia, Premature skin wrinkling, Intrauter... OMIM:618947
Ddost-Cdg
Dry skin ORPHA:300536
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Dry skin, Palmoplantar hyperkeratosis OMIM:206600
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Carious teeth ORPHA:1883
Aicardi-Goutieres Syndrome 1
Petechiae, Inability to walk, Erythema, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocya... OMIM:225750
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Acne inversa, Erythema, Pyoderma gangrenosum OMIM:608068
Agel Amyloidosis
Ataxia, Bruising susceptibility, Cutis laxa, Xerostomia, Dry skin, Dermatological manifestations ... ORPHA:85448
Cardiofaciocutaneous Syndrome 3
Wide mouth, Hyperkeratosis OMIM:615279
Leopard Syndrome 2
Dry skin OMIM:611554
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death, Natal tooth OMIM:609638
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Hidrotic Ectodermal Dysplasia
Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratotic papule, Cobblestone-like hy... ORPHA:189
Juvenile Dermatomyositis
Telangiectasia of the skin, Mucosal telangiectasiae, Skin rash, Palpebral edema, Erythema, Dry sk... ORPHA:93672
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Hyperkeratosis ORPHA:2611
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Dry skin, Umbilical hernia, Prolonged neonatal jaundice ORPHA:226313
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Urticaria, Prematurely aged appearance, Ataxia, Skin rash, Dry skin, Cutaneous photosensitivity ORPHA:220295
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormality of the dentition, Long ph... ORPHA:915
Radio-Tartaglia Syndrome
Gait imbalance, Ataxia, Dry skin, Striae distensae, Dysphagia OMIM:619312
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Skin rash, Death in childhood, Erythema, Gait ataxia, Cerebral edema, Lethargy OMIM:618321
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
German Syndrome
High palate, Everted lower lip vermilion, Oral cleft, Lymphedema, Open mouth, Dysphagia ORPHA:2077
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Hyperkeratosis, Delayed eruption of teeth OMIM:601812
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Dysmetria, Cutis marmorata, Dys... OMIM:606721
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Everted lower lip vermilion OMIM:278200
Weill-Marchesani Syndrome 2
High palate, Narrow palate, Tooth malposition, Lack of skin elasticity, Striae distensae, Abnorma... OMIM:608328
Temple-Baraitser Syndrome
High palate, Wide mouth, Gingival overgrowth, Everted lower lip vermilion, Long philtrum, Delayed... ORPHA:420561
Severe Intellectual Disability And Progressive Spastic Paraplegia
High palate, Wide mouth, Short philtrum, Everted upper lip vermilion ORPHA:280763
Sunct Syndrome
Facial erythema, Flushing, Palpebral edema, Facial edema ORPHA:57145
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Long philtrum, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Urticaria, Pustule, Eczema, Xerostomia, Erythema, Palmoplantar hyperk... ORPHA:2907
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Erythema, Angioedema, Laryngeal edema, Periorbital edema OMIM:106100
Atypical Werner Syndrome
Thin vermilion border, Lack of skin elasticity, Hypertriglyceridemia, Neoplasm of the oral cavity... ORPHA:79474
Geleophysic Dysplasia 1
Wide mouth, Lack of skin elasticity, Long philtrum, Smooth philtrum, Thickened skin OMIM:231050
Immunoglobulin A Vasculitis
Urticaria, Vascular skin abnormality, Pustule, Bruising susceptibility, Skin rash, Erythema, Angi... ORPHA:761
Xeroderma Pigmentosum
Telangiectasia of the skin, Ataxia, Erythema, Conjunctival telangiectasia, Dry skin, Hyperkeratos... ORPHA:910
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Dry skin, Ectodermal dysplasia OMIM:601701
Pachyonychia Congenita
Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Advanced erupti... ORPHA:2309
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Death in childhood, Erythema, Neonatal death, Ichthyosis, Death in infancy OMIM:609313
Trichothiodystrophy 3, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Eclabion, Carious teeth, Ichthyosis, Natal toot... OMIM:616395
Adult-Onset Still Disease
Joint swelling, Skin rash, Erythema, Pruritus ORPHA:829
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Tooth malposition, Everted lower lip vermilion, Short philtrum, Furrowed tongue ORPHA:1387
Poikiloderma With Neutropenia
Skin rash, Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Long philt... OMIM:604173
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Urticaria, Erythema, Pruritus, Skin vesicle, Thickened skin ORPHA:2135
Noonan Syndrome 5
Polyhydramnios, Dry skin OMIM:611553
Cardiofaciocutaneous Syndrome
Excessive wrinkled skin, Redundant skin, Dry skin, Hyperkeratosis, Lymphedema, Ichthyosis, Palmop... ORPHA:1340
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Dry skin OMIM:300860
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermilion, Open mouth OMIM:617865
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Abnormality of the dentition, Hyperkeratosis ORPHA:1806
Corneodermatoosseous Syndrome
Palmoplantar keratoderma, Erythema, Thickened skin ORPHA:3194
Hengel-Maroofian-Schols Syndrome
Tooth malposition, Everted lower lip vermilion, Short philtrum, Widely spaced teeth, Open mouth, ... OMIM:619641
Pachyonychia Congenita 3
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Gingivitis, Furrowed to... OMIM:615726
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Incontinentia Pigmenti
Telangiectasia of the skin, Skin rash, Erythema, Spina bifida occulta, Gait disturbance, Hyperker... ORPHA:464
Tetrasomy 12P
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Long phi... ORPHA:884
Tempi Syndrome
Facial erythema, Telangiectasia, Transudative pleural effusion, Ascites ORPHA:284227
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Eczema, Periorbital wrinkles, Gait ataxia, Ichthyosis, Umbilical hernia,... OMIM:601358
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Abnormality of the dentition, Oral cleft, Hypertriglyceridemia, Hyp... OMIM:182290
Rheumatic Fever
Pallor, Erythema, Gait disturbance ORPHA:3099
Noonan Syndrome 13
Lymphedema, Dry skin, Bruising susceptibility OMIM:619087
Netherton Syndrome
Urticaria, Congenital nonbullous ichthyosiform erythroderma, Hypernatremic dehydration, Angioedem... OMIM:256500
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Generalized abnormality of skin,... ORPHA:94059
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Scleroderma, Premature skin wrinkling, Premature graying of hair, Hyperchol... ORPHA:363618
Kohlschutter-Tonz Syndrome-Like
Ataxia, Inability to walk, Death in adolescence, Dry skin, Dysphagia, Oligohydramnios, Intrauteri... OMIM:619229
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Thick vermilion border, Short philtrum, Abnormal spaced incisors, Everted lower lip vermilion ORPHA:411986
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Everted lower lip vermilion ORPHA:228399
Spinocerebellar Ataxia 34
Ataxia, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Epidermal hyperkeratosis, Erythroderma OMIM:133190
Ameloonychohypohidrotic Syndrome
Dry skin, Seborrheic dermatitis OMIM:104570
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Striae distensae OMIM:225310
Ataxia-Telangiectasia
Telangiectasia of the skin, Ataxia, Prematurely aged appearance, Mucosal telangiectasiae, Gait di... ORPHA:100
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Elevated circulating C-reactive protein concentration, Pustule, Skin rash, Stomat... OMIM:612852
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Short philtrum, Long philtrum, Everted lower lip vermilion OMIM:619556
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Progeroid facial appearance, Excessive wrinkled skin, Athetosis, Intra... ORPHA:357058
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion ORPHA:181
Jung Syndrome
Dry skin ORPHA:2321
Atkin-Flaitz Syndrome
Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... ORPHA:1193
Intellectual Developmental Disorder, Autosomal Recessive 35
Downturned corners of mouth, Thin upper lip vermilion, Long philtrum, Everted lower lip vermilion OMIM:615162
Bachmann-Bupp Syndrome
Polyhydramnios, Dry skin OMIM:619075
2Q23.1 Microdeletion Syndrome
Everted lower lip vermilion, Macrodontia, Polyphagia, Tented upper lip vermilion, Open mouth ORPHA:228402
Pituitary Adenoma 4, Acth-Secreting
Bruising susceptibility, Poor wound healing, Facial erythema, Purpura, Striae distensae, Ecchymos... OMIM:219090
Acrodermatitis Enteropathica
Pustule, Generalized abnormality of skin, Erythema, Dry skin, Skin ulcer ORPHA:37
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Wide mouth, Striae distensae, Macroglossia, Thick lower lip vermilion OMIM:300354
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth, T... OMIM:619736
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Sialidosis Type 1
Vascular skin abnormality, Ataxia, Hyperkeratosis, Gait disturbance ORPHA:812
Xfe Progeroid Syndrome
Prematurely aged appearance, Death in adolescence, Dry skin, Cutaneous photosensitivity, Ascites OMIM:610965
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Intrauterine growth retardation, Dry skin, Ataxia OMIM:613990
Toxic Epidermal Necrolysis
Polydipsia, Erythema, Acantholysis, Dysphagia, Skin ulcer ORPHA:537
Tangier Disease
Dry skin OMIM:205400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Wide mouth, Narrow mouth, Everted lower lip vermilion, Long philtrum, Downturned corners of mouth... OMIM:619720
Stuve-Wiedemann Syndrome 1
Dysphagia, Oligohydramnios, Death in infancy, Premature skin wrinkling OMIM:601559
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Downturned corners of mouth, Narrow mouth, Long philtrum, Everted lower lip vermilion OMIM:618089
Donohue Syndrome
Wide mouth, Gingival overgrowth, Acanthosis nigricans, Hyperkeratosis, Thick lower lip vermilion OMIM:246200
Resistance To Thyrotropin-Releasing Hormone Syndrome
Dry skin, Lethargy, Prolonged neonatal jaundice ORPHA:99832
Microscopic Polyangiitis
Skin rash, Subcutaneous hemorrhage, Cutis marmorata, Erythema, Skin ulcer ORPHA:727
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Primary hypercortisol... OMIM:610475
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Intrauterine growth retardation, Progeroid facial appearance ORPHA:50811
Neonatal Lupus Erythematosus
Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash, Parakeratosis ORPHA:398124
Immunodeficiency 23
Ataxia, Vasculitis in the skin, Eczema, Erythema, Chronic mucocutaneous candidiasis, Molluscum co... OMIM:615816
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Increased number of skin folds, Cutis laxa ORPHA:436274
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Ichthyosis, Everted lower lip vermilion OMIM:242510
Ichthyosis, Congenital, Autosomal Recessive 4B
Congenital ichthyosiform erythroderma, Everted lower lip vermilion OMIM:242500
Non-Distal Trisomy 13Q
High palate, Everted lower lip vermilion, Thin vermilion border, Abnormality of the dentition, Lo... ORPHA:1702
Williams-Beuren Syndrome (WBS)
Microdontia, Everted lower lip vermilion DECIPHER:3
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies