Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 27 (fatty acid transporter), member 4
FATP4,  fatty acid transport protein 4

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc27a4 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 Slc27a4 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Neonatal asphyxia, Asthma, Der... OMIM:608649
Ichthyosis-Prematurity Syndrome
Ichthyosis ORPHA:88621

The table below shows human diseases predicted to be associated to Slc27a4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Hyperkeratosis, Thickened skin ORPHA:1659
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Porokeratosis, Spinous keratoses of palms and soles OMIM:175860
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Ichthyosis Bullosa Of Siemens
Congenital bullous ichthyosiform erythroderma OMIM:146800
Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules In The Skin
Generalized ichthyosis OMIM:601039
Acanthosis Nigricans
Acanthosis nigricans OMIM:100600
Porokeratosis 6, Multiple Types
Porokeratosis OMIM:612353
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Porokeratosis 9, Multiple Types
Porokeratosis OMIM:616631
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis ORPHA:737
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Porokeratosis 8, Disseminated Superficial Actinic Type
Porokeratosis OMIM:616063
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Self-Improving Collodion Baby
Ichthyosis ORPHA:281122
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:617571
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin ORPHA:140933
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi... ORPHA:79395
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly ORPHA:384
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Dowling-Degos Disease 4
Pruritus, Hypergranulosis OMIM:615696
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans ORPHA:166113
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Ulerythema Ophryogenesis
Miscarriage, Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... ORPHA:3406
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... ORPHA:530838
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Lamellar Ichthyosis
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Erythroderma, Hyperkeratosis, Ev... ORPHA:313
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... OMIM:242300
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery... OMIM:607602
Aquagenic Palmoplantar Keratoderma
Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin OMIM:146590
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Pruritus, Abnorm... ORPHA:79147
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Palmoplantar Keratoderma, Epidermolytic, 1
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... OMIM:144200
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis ORPHA:83453
Anonychia With Flexural Pigmentation
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Bathing Suit Ichthyosis
Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Ichthyosis, Pal... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Ichthyosis-Hypotrichosis Syndrome
Ichthyosis ORPHA:91132
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Epidermal acanthosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratos... ORPHA:90368
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Asthma, Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital n... OMIM:614457
Netherton Syndrome
Hypernatremic dehydration, Recurrent respiratory infections, Parakeratosis, Recurrent skin infect... OMIM:256500
Parana Hard Skin Syndrome
Thickened skin, Respiratory insufficiency, Hyperkeratosis, Generalized hirsutism, Restricted ches... ORPHA:2812
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe... ORPHA:79455
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod... ORPHA:312
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Costello Syndrome
Failure to thrive in infancy, Redundant skin, Abnormal dental enamel morphology, Abnormality of t... ORPHA:3071
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Joint stiffness, Abnormal hair morphology, Thickened skin, Flexion contracture, Lack of... ORPHA:1979
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:461
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Ichthyosis ORPHA:75325
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis OMIM:616487
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma OMIM:615022
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Pruritus, Hyperkerat... ORPHA:79399
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... OMIM:113800
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Ichthyosis With Confetti
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbull... OMIM:609165
Antisynthetase Syndrome
Recurrent respiratory infections, Skin rash, Telangiectasia of the skin, Edema, Pruritus, Cough, ... ORPHA:81
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema OMIM:614204
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Ataxia, Xerostomia, Dysmetria, Hyperkeratosis, Ichthyosis, A... OMIM:618527
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... ORPHA:2722
Disseminated Superficial Actinic Porokeratosis
Pruritus, Porokeratosis ORPHA:79152
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Erythe... ORPHA:79481
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn... ORPHA:141152
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:607936
Superficial Epidermolytic Ichthyosis
Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis ORPHA:455
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:617525
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Immunodeficiency 58
Scaling skin, Recurrent cutaneous abscess formation, Psoriasiform lesion, Chronic pulmonary obstr... OMIM:618131
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters ORPHA:89838
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Unsteady gait, Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, ... ORPHA:2269
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Ataxia, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Asthma, Ski... ORPHA:90280
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Woolly... OMIM:605676
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Lack of skin elasticity, Self-injurious behavior, Attention def... ORPHA:79254
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology, Pruritus ORPHA:254478
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular h... OMIM:615225
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-... OMIM:602540
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Lipoid Proteinosis
Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin, Abnormality of the gingiva, Thick... ORPHA:530
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Acanthosis nigricans OMIM:200170
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Marshall-Smith Syndrome
Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, Gingival overgrowth, Reduce... ORPHA:561
Iga Pemphigus
Neutrophilic infiltration of the skin, Oral mucosal blisters, Acantholysis, Pruritus, Pustule, Ul... ORPHA:555905
Lymphatic Malformation 12
Inguinal hernia, Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphe... OMIM:620014
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Werner Syndrome
Sparse scalp hair, Increased bone mineral density, Miscarriage, Joint stiffness, Abnormal hair wh... ORPHA:902
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:816
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Epidermal acanthosis, Pruritus, Jaundice, Ichthyosis, Orthokeratosis, Dry skin OMIM:607626
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Abnormal lung morphology, Hyper... ORPHA:182
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis ORPHA:209981
Diffuse Cutaneous Mastocytosis
Pruritus, Thickened skin, Wheezing, Darier's sign, Urticaria, Dermatographic urticaria, Scaling s... ORPHA:79456
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth,... ORPHA:411511
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Warty Dyskeratoma
Abnormality of the alveolar ridges, Acrokeratosis, Acantholysis, Oral mucosa nodule, Epidermal th... ORPHA:69745
Harlequin Ichthyosis
Recurrent respiratory infections, Limitation of joint mobility, Erythroderma, Dehydration, Respir... ORPHA:457
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Facial edema, Dysp... ORPHA:293173
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Aggressive behavior, Thickened skin OMIM:247100
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Neonatal asphyxia, Asthma, Der... OMIM:608649
Baralle-Macken Syndrome
Striae distensae, Inability to walk, High, narrow palate, Dystonia, Hirsutism OMIM:619255
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Ring Chromosome 22 Syndrome
Edema, Lymphedema, Protruding tongue, Inappropriate behavior, Thick vermilion border, Pleural eff... ORPHA:1446
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hypopigmentation of hair, Hyperactivity, Protruding tongue, Abn... ORPHA:98794
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Ichthyosis Vulgaris
Asthma, Absent keratohyalin granules, Dry skin, Ichthyosis, Eczematoid dermatitis OMIM:146700
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Hirsutism, Gingival ov... OMIM:212066
Lichen Planopilaris
Pruritus, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Neoplasm of the oral cavity ORPHA:525
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... ORPHA:454831
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... ORPHA:401911
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin ORPHA:317
Kleefstra Syndrome 1
Natal tooth, Recurrent respiratory infections, Protruding tongue, Persistence of primary teeth, A... OMIM:610253
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Joint hypermobility, Protruding tongue, Synophrys, Widow's peak, Bruxism, Stereotypical hand wrin... OMIM:617804
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Keratoderma Hereditarium Mutilans
Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Self-injurious behavior, Ich... ORPHA:494
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Abnormal oral cavity morphology, Acantholysis ORPHA:704
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous... OMIM:613576
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Anal mucosal leukoplakia, Palmoplantar keratoderma, Skin... ORPHA:218
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Ma... ORPHA:398124
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Neonatal respiratory distress, Protruding tongue, Low anterior hairline, Gingival overgrowth, Wid... OMIM:618797
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Atelectasis, Flexion contracture, Aspiration, Respiratory ins... ORPHA:258
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth, Cleft palate, Thin vermil... OMIM:612938
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia OMIM:617055
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Hypergranul... OMIM:615508
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin OMIM:129490
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Hyperkera... OMIM:136300
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Hypodontia, Dry skin OMIM:224750
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis, Ichthyosis ORPHA:3052
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... ORPHA:1302
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysp... ORPHA:98795
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Lupus Erythematosus Tumidus
Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Darier-White Disease
Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyperkeratotic fra... OMIM:124200
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Short distal phalanx of finger OMIM:311895
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Cleft palate, Restricti... OMIM:614399
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Micrognathia, Dental crowding, Lack of skin elasticity, Narrow mouth OMIM:615381
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... OMIM:616029
8Q22.1 Microdeletion Syndrome
Sparse eyelashes, Camptodactyly of finger, Abnormal hair pattern, Highly arched eyebrow, Sparse e... ORPHA:178303
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... ORPHA:1248
Noonan Syndrome 8
Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Hyperextensible skin, Webbed n... OMIM:615355
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Bronchiectasis, Macroglossia, Chronic bro... OMIM:242860
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Conical tooth, Absent eyelashes, Delayed skeletal maturation, Osteoporosis, Hyper... OMIM:618625
Down Syndrome
Joint laxity, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower... ORPHA:870
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia OMIM:254120
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Short toe, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palm... OMIM:242100
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Sparse scalp hair, Thin skin, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia,... ORPHA:1660
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagia, Dry skin OMIM:612379
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Stiff Skin Syndrome
Thickened skin, Lack of skin elasticity ORPHA:2833
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i... ORPHA:163525
Leri Pleonosteosis
Thickened skin, Lack of skin elasticity ORPHA:2900
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Akinesia, Polyhydramnios, Dysphagia, Hype... OMIM:608013
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Facial edema,... ORPHA:100057
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, High palate, Long p... OMIM:612940
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczema, Dysphagia, Death in adolescence, Stillbirth, Camptodactyly, Neonata... OMIM:619751
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Ectodermal Dysplasia/Skin Fragility Syndrome
Ectodermal dysplasia, Fragile skin, Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Respiratory insuffic... ORPHA:486815
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... OMIM:105830
Developmental And Epileptic Encephalopathy 80
Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Wide mouth, High p... OMIM:618580
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Polyhydramnios, Abnormal eyelash morpholog... ORPHA:2671
Congenital Sialidosis Type 2
Edema, Protruding tongue, Respiratory tract infection, Gingival overgrowth, Generalized hypertric... ORPHA:93400
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Trichothiodystrophy 9, Nonphotosensitive
Ataxia, Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Recurrent pneumonia, Prominent eyelashes, Gingival overgrowth, Long philtrum, ... OMIM:619179
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Thin skin, Striae distensae OMIM:225310
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythrode... OMIM:308050
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin OMIM:612952
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Natal tooth, Acantholysis OMIM:609638
Pachyonychia Congenita
Respiratory distress, Natal tooth, Alopecia, Angular cheilitis, Linear arrays of macular hyperker... ORPHA:2309
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Protruding tongue, Micrognathia, Excessive wrinkled skin, Thick vermilion borde... OMIM:608779
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit h... OMIM:619580
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Redundant neck skin, Protruding tongue, High, narrow palate, Delay... OMIM:214100
Proteus Syndrome
Hyperkeratosis, Open mouth, Mandibular hyperostosis, Facial hyperostosis OMIM:176920
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Palmoplantar keratoderma, ... ORPHA:158668
Angelman Syndrome
Hyperactivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Obesity, Wide mouth, Sel... ORPHA:72
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, High palate, Th... ORPHA:90153
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Ataxia, Gait disturbance, Fine hair ORPHA:1174
Peeling Skin Syndrome 1
Pruritus, Asthma, Scaling skin, Erythroderma OMIM:270300
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, High palate, Follicular hyperkeratosis OMIM:617066
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Failure to thrive, Sinusitis, Slow-growing hair, Abnormal dental morpholo... ORPHA:238468
Fontaine Progeroid Syndrome
Redundant skin, High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Co... OMIM:612289
Hereditary Sensory And Autonomic Neuropathy Type 1
Poor wound healing, Inability to walk, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Stepp... ORPHA:36386
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Raine Syndrome
Mandibular prognathia, Natal tooth, Death in infancy, Micromelia, Protruding tongue, Micrognathia... OMIM:259775
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Accelerated skeletal maturation, Edema, Generalized osteosc... ORPHA:1423
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Prolidase Deficiency
Micrognathia, Carious teeth, Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hy... ORPHA:742
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Pseudoxanthoma Elasticum
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Hyperextensible skin... ORPHA:758
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Patent ductus arteriosus, Gingival overgrowth, Dysphagia, Hypoplastic vertebra... OMIM:230600
Achondrogenesis, Type Ia
Polyhydramnios, Protruding tongue, Abnormal hand bone ossification, Increased nuchal translucency... OMIM:200600
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Pemphigus Erythematosus
Malar rash, Oral ulcer, Acantholysis ORPHA:79480
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Sparse body hair OMIM:618535
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Cleft palat... ORPHA:2890
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteopenia, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule... OMIM:612852
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Broad-based gait, Neonatal respiratory di... OMIM:610978
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epi... ORPHA:83617
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Thin vermilion border, Short philtrum, Thin skin, Sparse hair, Failure to t... ORPHA:261304
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Wide mouth, Hyperkeratosis, Short foot, Short philtru... ORPHA:163966
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Protruding tongue, Polyhydramnios, Synophrys, Hi... OMIM:617062
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal dental enamel morphology, Pruritus, Erythema, Cheilitis, Skin ulcer, Hyperker... ORPHA:1334
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma... OMIM:614669
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Dysphagia, Cough, Ab... ORPHA:77260
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis OMIM:615147
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Polyhydramnios, Decreased... OMIM:300580
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Palpebral edema, Small for gestational age, Protruding tongue, Long upper l... ORPHA:99843
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Follicular hyperkeratosis ORPHA:300179
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurren... ORPHA:420741
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium,... ORPHA:2414
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa ORPHA:79145
Developmental And Epileptic Encephalopathy 31B
Failure to thrive, Choking episodes, Gingival overgrowth, Protruding tongue OMIM:620352
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, ... OMIM:606367
Radio-Tartaglia Syndrome
Tremor, High, narrow palate, Synophrys, Low anterior hairline, High palate, Abnormal repetitive m... OMIM:619312
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Joubert Syndrome 1
Central apnea, Hyperactivity, Episodic tachypnea, Highly arched eyebrow, Protruding tongue, Aggre... OMIM:213300
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Obesity, Respiratory distress OMIM:615993
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Acantholysis, Absent eyelashes, Oligohydramnios, Cleft palate, Respi... ORPHA:158687
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosi... ORPHA:79397
Mitral Valve Prolapse 1
High, narrow palate, High palate, Striae distensae OMIM:157700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... ORPHA:2004
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Abnormality of pr... OMIM:257980
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Atopic dermati... ORPHA:2902
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Hyperactivity, Aggressive behavior, Thick lower lip vermilion, Small hand,... OMIM:300354
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
9q subtelomeric deletion syndrome
Synophrys, Protruding tongue DECIPHER:52
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Protruding tongue, Diastema, Absent frontal sinuses, Thick lower lip vermi... OMIM:301040
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Acantholysis,... ORPHA:537
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Increased laxity of fingers, Respiratory insufficiency due to muscle weakness, Dist... OMIM:254090
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Protruding tongue, Synophrys, Obesity, Downturned corners of mouth, Macrog... ORPHA:96147
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Cyanosis, Ataxia, Central apnea ORPHA:71277
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Gingival overgrowth, Tracheoesophageal fistula, Fine ... ORPHA:1839
Icf Syndrome
Macroglossia, Malabsorption, Micrognathia, Protruding tongue ORPHA:2268
Cardiofaciocutaneous Syndrome 3
Curly hair, Reduced bone mineral density, Wide mouth, Hyperkeratosis, Webbed neck, Failure to thrive OMIM:615279
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue OMIM:155900
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Dysphagia, Generalized hypertrichosis ORPHA:93399
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... ORPHA:1832
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Sparse eyebrow, Trichorrhexis nodosa, Cutis laxa, Sparse hair, Woolly hair, Cran... OMIM:619691
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Tented upper lip vermilion, Protruding tongue, Synophrys, Bilat... OMIM:619777
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... ORPHA:90156
Abdominal wall defect, Gastroschisis OMIM:230750
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Low posterior hairline, Pulmo... OMIM:300963
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Catel-Manzke Syndrome
Camptodactyly of finger, Highly arched eyebrow, Joint stiffness, Cleft palate, Glossoptosis, Join... ORPHA:1388
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor, Dysphagia, Failur... OMIM:613561
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... ORPHA:79474
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Degcags Syndrome
Osteopenia, Polyhydramnios, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Prematur... OMIM:619488
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Eczema, Cleft palate, Short philtrum, Orthokeratosis, Acne... OMIM:617337
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Inflammatory abnormality of the skin, Failure to thrive, Hyperkeratosis, Ichthy... OMIM:610768
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Weill-Marchesani Syndrome 2
Short metacarpal, Hypoplasia of the maxilla, Thickened skin, Patent ductus arteriosus, Short meta... OMIM:608328
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... ORPHA:2759
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Craniofaciofrontodigital Syndrome
Respiratory distress, Osteopenia, Edema, Polyhydramnios, Large for gestational age, Low anterior ... ORPHA:363705
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Respiratory insufficiency ORPHA:238329
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... ORPHA:1143
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas ORPHA:79452
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Abnormal stomach morphology, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:281090
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Sparse hair... ORPHA:1807
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia OMIM:227260
Poikiloderma With Neutropenia
Joint laxity, Plantar hyperkeratosis, Skin rash, Edema, Joint stiffness, Sparse eyebrow, Carious ... OMIM:604173
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the s... OMIM:620321
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair ORPHA:2985
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Brittle hair, Trichoschisis, Small for gestational age,... OMIM:601675
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... OMIM:602400
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Recurrent skin infections, Skin rash, Pneumonia, Edema, Respirat... ORPHA:36234
Generalized hypotrichosis OMIM:207780
Congenital Heart Block
Cyanosis, Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Pleural effu... ORPHA:60041
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Edema of the dorsum of feet, Edema of the dorsum of hands, De... ORPHA:544503
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Osteoarthritis, Reduced bone mineral density, High palat... ORPHA:740
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Osteopenia, Osteomyelitis, Skin rash... ORPHA:2314
Eczema, Scaling skin, Ichthyosis ORPHA:79323
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Solar Urticaria
Edema, Pruritus, Periorbital edema, Abnormal tongue morphology, Angioedema, Dyspnea, Wheezing, Ab... ORPHA:97230
X-Linked Dominant Chondrodysplasia Punctata
Ichthyosis, Abnormal lung morphology, Scaling skin, Erythroderma ORPHA:35173
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Stevens-Johnson Syndrome
Recurrent respiratory infections, Abnormal pleura morphology, Acantholysis, Cough, Dyspnea, Eryth... ORPHA:36426
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Fg Syndrome 3
Death in infancy, Hyperactivity, Pyloric stenosis, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:300406
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Glossoptosis ORPHA:3104
De Sanctis-Cacchione Syndrome
Parakeratosis, Ataxia, Scissor gait, Telangiectasia, Choreoathetosis, Cutaneous photosensitivity OMIM:278800
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Flexion contracture, Pulmonary hypoplasia, Oligo... OMIM:616733
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Inguinal hernia, Perianal er... OMIM:308205
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Ataxia ORPHA:3363
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Geleophysic Dysplasia 1
Short palm, Thickened skin, Lack of skin elasticity, Wide mouth, Short foot, Long philtrum, Short... OMIM:231050
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Pneumonia, Jaundice, Scaling skin,... ORPHA:39812
Acute Lung Injury
Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... ORPHA:178320
Idiopathic Bronchiectasis
Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Productive cough, ... ORPHA:60033
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Polyhydramnios, Protruding tongue, Accelerated skele... ORPHA:50945
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma OMIM:615735
Congenital Disorder Of Glycosylation, Type Iy
Wide mouth, Failure to thrive, Widely spaced teeth, Respiratory distress OMIM:300934
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... OMIM:614941
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Atelectasis, High palate, Neonatal death,... OMIM:300219
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Palmoplantar keratoderma, Scaling skin, Dry skin OMIM:618373
Recon Progeroid Syndrome
Progeroid facial appearance, Livedo reticularis, Cutaneous photosensitivity, Scaling skin, Thin s... OMIM:620370
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Hyperventilation, Protruding tongue OMIM:614325
Gand Syndrome
Sparse hair, Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Ichthyosis-Prematurity Syndrome
Ichthyosis ORPHA:88621
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Weight loss, Inapp... OMIM:168605
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Autosomal Recessive Cutis Laxa Type 1
Inguinal hernia, Redundant skin, Pneumothorax, Recurrent pneumonia, Lack of skin elasticity, Resp... ORPHA:90349
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Thin skin, Sparse body hair ORPHA:1810
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... ORPHA:36238
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Patent ductus arteriosus, Esophageal varix, Retrognathia, Hyperkeratosis, Infla... OMIM:614576
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... OMIM:615726
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Failure to thriv... OMIM:616069
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Netherton Syndrome
Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Eczema, Skin rash, Malabso... ORPHA:634
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Congenital Myasthenic Syndrome
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Sudden episodic apnea, Polyhyd... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Sudden episodic apnea, Polyhyd... ORPHA:98914
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Akinesia, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Progeroid Syndrome, Petty Type
Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long... ORPHA:2963
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Basan Syndrome
Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weigh... ORPHA:747
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Spa... OMIM:301029
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ... OMIM:615042
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Psoriasiform lesion, Pneumonia, Erythema nodosum, Asthma, Recur... OMIM:614700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Gait ataxia, Weight loss, Failure to thrive OMIM:612075
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Pruritus, Palmoplantar keratoderma, Skin vesicle, Enamel hy... ORPHA:79410
Reactive Arthritis
Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Pustule, Respiratory insufficiency, W... ORPHA:29207
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Hyperkeratosis... OMIM:601701
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Weight loss, ... ORPHA:142
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Thin upper lip vermilion, Recurrent respiratory infections, Osteopenia, Pol... ORPHA:329178
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Rafiq Syndrome
Smooth philtrum, Thin upper lip vermilion, Joint laxity, Joint hypermobility, Highly arched eyebr... OMIM:614202
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Eczema, Anorexia, Tachypnea, Weight loss, Perioral eczema ORPHA:79242
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... ORPHA:199241
Esophageal Atresia
Omphalocele, Recurrent respiratory infections, Respiratory distress, Cyanosis, Small for gestatio... ORPHA:1199
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Nicolaides-Baraitser Syndrome
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, High, narrow palate, Exc... ORPHA:3051
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Choki... ORPHA:137914
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion ... OMIM:148210
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer, Abnormality of the dentition ORPHA:1806
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Joint laxity, Curly hair, Sparse scalp hair, Hyperactivity, Eczema, Polyhydramnios, Large for ges... OMIM:607721
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Myopathy And Diabetes Mellitus
Respiratory distress, Inability to walk, Tip-toe gait, Progressive cerebellar ataxia ORPHA:2596
Meconium Aspiration Syndrome