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
Allergic rhinitis, Erythroderma, Pruritus, Dermatographic urticaria, Polyhydramnios, Follicular h... 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, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Thickened skin, Hyperkeratosis ORPHA:1659
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Spinous keratoses of palms and soles, Porokeratosis OMIM:175860
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
White Sponge Nevus 2
Edema, Hyperparakeratosis 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
Ichthyosis Hystrix Gravior
Ichthyosis OMIM:146600
Porokeratosis 6, Multiple Types
Porokeratosis OMIM:612353
Ichthyosis Hystrix, Curth-Macklin Type
Ichthyosis OMIM:146590
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Porokeratosis 9, Multiple Types
Porokeratosis OMIM:616631
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Vohwinkel Syndrome, Variant Form
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Porokeratosis 8, Disseminated Superficial Actinic Type
Porokeratosis OMIM:616063
Self-Improving Collodion Baby
Ichthyosis ORPHA:281122
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... OMIM:300918
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery... ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis OMIM:617571
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly ORPHA:384
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... OMIM:619208
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:612281
Bazex Syndrome
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis ORPHA:166113
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis OMIM:133200
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma OMIM:615023
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Erythrokeratodermia Variabilis Et Progressiva 4
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Dry skin, Erythema, Abnormal umbilicus morphology, Scaling skin, Nonepidermoly... ORPHA:530838
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Pruritus, Atopic dermatitis, Parakeratosis ORPHA:90368
Lamellar Ichthyosis
Erythroderma, Pruritus, Lack of skin elasticity, Everted lower lip vermilion, Ichthyosis, Hyperke... ORPHA:313
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma OMIM:615024
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis OMIM:615821
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:613943
Anonychia With Flexural Pigmentation
Carious teeth, Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Acquired Ichthyosis
Pruritus, Erythema, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratos... ORPHA:454
Palmoplantar Keratoderma, Epidermolytic
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt... OMIM:144200
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis ORPHA:83453
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal... ORPHA:79147
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... ORPHA:100976
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Dowling-Degos Disease 4
Hypergranulosis OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Parakeratosis OMIM:242300
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Ichthyosis-Hypotrichosis Syndrome
Ichthyosis ORPHA:91132
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis OMIM:212360
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:607602
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis ORPHA:158681
Parana Hard Skin Syndrome
Respiratory insufficiency, Restricted chest movement, Thickened skin, Generalized hirsutism, Hype... ORPHA:2812
Lymphatic Malformation 4
Lymphedema, Hyperkeratosis OMIM:615907
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Cutaneous Mastocytoma
Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Telangiectasia of the skin, Dermat... ORPHA:79455
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... ORPHA:2200
Costello Syndrome
Thick lower lip vermilion, Failure to thrive in infancy, Acanthosis nigricans, Abnormal hair morp... ORPHA:3071
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Weight loss, Palmoplantar keratoderma, Thickened skin, Reduce... ORPHA:1979
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Asthma, Ichthyosis, Hyperkeratosis, Dry skin, Inguinal hernia OMIM:614457
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity, Localized epidermolytic hyperkeratosis ORPHA:281127
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Reduced subcutaneous adipose tissue, Mo... ORPHA:90158
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Ichthyosis ORPHA:75325
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Failure to thrive, Ataxia, Scaling skin, Hyperkeratosis, Dry skin OMIM:609180
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis, Unsteady ... ORPHA:2269
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Netherton Syndrome
Allergic rhinitis, Erythroderma, Angioedema, Failure to thrive, Hypernatremic dehydration, Parake... OMIM:256500
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis OMIM:615022
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Palmar hyperkeratosis, Hyperkeratosis, Abnormality of the dentition, Plantar hyperkerat... ORPHA:79399
Psoriasis 14, Pustular
Psoriasiform dermatitis, Pustule, Erythema, Parakeratosis, Epidermal acanthosis OMIM:614204
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Alopecia, Sparse hair OMIM:212835
Epidermolytic Hyperkeratosis
Erythroderma, Scaling skin, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkera... OMIM:113800
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... ORPHA:3361
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Antisynthetase Syndrome
Dysphagia, Respiratory insufficiency, Xerostomia, Pruritus, Edema, Pulmonary arterial hypertensio... ORPHA:81
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... ORPHA:2199
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Weight loss, Microglossia, Upper airway obstruction, Respiratory distress, Dyspnea,... ORPHA:141152
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Dysphagia, Hyperkeratosis OMIM:616029
Disseminated Superficial Actinic Porokeratosis
Pruritus, Porokeratosis ORPHA:79152
Immunodeficiency 58
Eczema, Chronic bronchitis, Ichthyosis, Recurrent respiratory infections, Chronic pulmonary obstr... OMIM:618131
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis ORPHA:79100
Acral Peeling Skin Syndrome
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Pustule, Acantholysis, Pruritus, Erythema, Abnormal oral m... ORPHA:79481
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Oral mucosal blisters, Hyperkeratosis ORPHA:89838
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Recessive X-Linked Ichthyosis
Dry skin, Ichthyosis, Hyperkeratosis ORPHA:461
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Cutis marmorata, Mala... ORPHA:90280
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Acantholysis, Ichthyosis ORPHA:455
Dry skin, Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... OMIM:257960
Ichthyosis, Congenital, Autosomal Recessive 3
Eclabion, Erythema, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, H... OMIM:606545
Classic Phenylketonuria
Tremor, Attention deficit hyperactivity disorder, Hypopigmentation of hair, Lack of skin elasticity ORPHA:79254
Tooth Agenesis, Selective, 8
Dry skin, Sparse hair, Sparse eyebrow OMIM:617073
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis OMIM:607936
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Skin vesicle ORPHA:254478
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Mandibular prognathia, Downturned corners of mouth, Open mouth, Protruding tongue OMIM:618732
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Classic Mycosis Fungoides
Eczema, Pruritus, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer ORPHA:2584
Lipoid Proteinosis
Thick lower lip vermilion, Dysphagia, High palate, Pustule, Tongue nodules, Thickened skin, Micro... ORPHA:530
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis, Diffuse palmoplantar hyperkeratosis ORPHA:86918
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Acanthosis nigricans OMIM:200170
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... ORPHA:87503
Pruritus, Hyperkeratosis ORPHA:79358
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis OMIM:616487
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Ulerythema Ophryogenesis
Hyperkeratotic papule, Contact dermatitis, Acne, Follicular hyperkeratosis, Facial erythema, Dry ... ORPHA:3406
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Marshall-Smith Syndrome
Failure to thrive, Increased susceptibility to fractures, Craniosynostosis, Gingival overgrowth, ... ORPHA:561
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Micrognathia, Narrow mouth, Lack of skin elasticity, Dental crowding, Scleroderma OMIM:615381
Hyperkeratotic papule, Lymphedema, Vascular skin abnormality, Pruritus, Edema, Hyperparakeratosis... ORPHA:182
Ichthyosis, Congenital, Autosomal Recessive 2
Short finger, Erythema, Palmoplantar keratoderma, Short toe, Hypergranulosis, Congenital nonbullo... OMIM:242100
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Jaundice, Orthokeratosis, Ichthyosis, Dry skin, Epidermal acanthosis OMIM:607626
Perching Syndrome
Dysphagia, High palate, Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Diffuse Cutaneous Mastocytosis
Wheezing, Erythroderma, Peau d'orange, Pruritus, Thickened skin, Dermatographic urticaria, Genera... ORPHA:79456
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, Cleft palate, High palate, Respiratory insufficiency, Failure to thrive, Respiratory f... OMIM:614399
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Sjögren-Larsson Syndrome
Erythema, Abnormal dental enamel morphology, Ichthyosis, Hyperkeratosis, Dry skin ORPHA:816
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Warty Dyskeratoma
Neoplasm of the tongue, Acantholysis, Abnormality of the alveolar ridges, Abnormal hard palate mo... ORPHA:69745
Iga Pemphigus
Oral mucosal blisters, Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Ul... ORPHA:555905
Pierre Robin Syndrome
Micrognathia, Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif... OMIM:610921
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis, High palate OMIM:617066
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Irida Syndrome
Abnormal intestine morphology, Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Erythroderma, Pruritus, Dermatographic urticaria, Polyhydramnios, Follicular h... OMIM:608649
Peeling Skin Syndrome 1
Scaling skin, Pruritus, Erythema, Asthma OMIM:270300
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Cleft palate, Pierre-Robin sequence, Glossoptosis, Short distal phalanx of finger OMIM:311895
Ichthyosis Vulgaris
Eczematoid dermatitis, Asthma, Ichthyosis, Absent keratohyalin granules, Dry skin OMIM:146700
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis OMIM:602540
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin ORPHA:317
Lichen Planopilaris
Abnormal intestine morphology, Pruritus, Neoplasm of the oral cavity, Hyperkeratosis, Skin ulcer ORPHA:525
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis OMIM:616295
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Neonatal Lupus Erythematosus
Cutaneous photosensitivity, Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperk... ORPHA:398124
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... OMIM:615508
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Neonatal respiratory distress, Wide mouth, Low anterior hairline, High anterior hairline, Gingiva... OMIM:618797
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin OMIM:604536
Pleural Mesothelioma
Dysphagia, Abnormal respiratory system physiology, Weight loss, Cough, Respiratory distress, Abno... ORPHA:50251
Baralle-Macken Syndrome
Dystonia, High, narrow palate, Hirsutism, Striae distensae, Inability to walk OMIM:619255
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Enamel hypoplasia, Follicular hyperkeratosis, Thin upper lip vermilion,... OMIM:613576
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Pemphigus Vulgaris
Abnormal oral cavity morphology, Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Maxillonasal Dysplasia
Cleft palate, Microdontia, Open bite, Mandibular prognathia, Striae distensae, Short distal phala... ORPHA:1248
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Failure to thrive, Cough, Respiratory distress,... OMIM:263000
Flynn-Aird Syndrome
Increased bone density with cystic changes, Carious teeth, Alopecia of scalp, Osteoporosis, Alope... OMIM:136300
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... ORPHA:1808
Darier Disease
Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat... ORPHA:218
Ring Chromosome 22 Syndrome
Edema, Thick eyebrow, Thick vermilion border, Pleural effusion, Protruding tongue, Lymphedema ORPHA:1446
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Dysphagia, Wide mouth, Mandibular prognathia, Drooling, Abnormal eating beha... ORPHA:411511
Werner Syndrome
Neoplasm of the lung, Pulmonary artery stenosis, Osteoporosis, Slender build, White forelock, Neo... ORPHA:902
Harlequin Ichthyosis
Eclabion, Respiratory insufficiency, Erythroderma, Ichthyosis, Limitation of joint mobility, Hype... ORPHA:457
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Cleft palate, Hand oligodactyly, Glossoptosis, Abnormality of the dentition ORPHA:3104
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Ectodermal dysplasia, Inguinal hernia, Follicular hyperkeratosis, Oligohydramnios, ... OMIM:308205
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Macroglossia, Failure to thrive, Malabs... OMIM:242860
Darier-White Disease
Acantholysis, Pruritus, Subungual hyperkeratotic fragments, Acrokeratosis, Enlargement of parotid... OMIM:124200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Macroglossia, Impaired mastica... ORPHA:258
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Dry skin, Sparse and thin eyebrow... OMIM:129490
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Sparse eyelashes, Long philtrum, Craniosynostosis, Abnormal hair pattern, ... ORPHA:178303
Noonan Syndrome 8
Eczema, Palmoplantar cutis laxa, Failure to thrive, Webbed neck, Large for gestational age, Polyh... OMIM:615355
Down Syndrome
Thick lower lip vermilion, Aganglionic megacolon, Microdontia, Macroglossia, Obesity, Anal atresi... ORPHA:870
Fingernail dysplasia, Thin skin, Dry skin, Sparse scalp hair, Trichodysplasia, Sparse body hair, ... ORPHA:1660
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Choking ep... ORPHA:60032
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Dysphagia, Wide mouth, Limitation of movement at ankles, Drooling, Abnormal ... ORPHA:98794
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Neu-Laxova Syndrome
Cleft palate, Abnormal hair morphology, Rickets, Submucous cleft hard palate, Abnormality of the ... ORPHA:2671
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Erythema, Stillbirth, Parakeratosis, Hyperkeratosis, Pulmonary hypoplasia, Cong... OMIM:308050
Congenital Disorder Of Glycosylation, Type Iia
Diastema, Hirsutism, Wide mouth, Failure to thrive, Long eyelashes, Gingival overgrowth, Thin ver... OMIM:212066
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Pruritus, Dry skin, Cutis laxa OMIM:105250
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Osteoporosis, Absent eyebrow, Absent eyelashes, Conical tooth, Delayed skeletal m... OMIM:618625
Ramon Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Hyperkeratosis, Ging... ORPHA:3019
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis OMIM:612379
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Pharyngeal edema, Angioedema, Swollen lip, Erythema, Facial edema, Upper airway obs... ORPHA:100057
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Dysphagia, Wide mouth, Mandibular prognathia, Protruding tongue ORPHA:98795
Stiff Skin Syndrome
Thickened skin, Lack of skin elasticity ORPHA:2833
Leri Pleonosteosis
Thickened skin, Lack of skin elasticity ORPHA:2900
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea... OMIM:265120
Developmental And Epileptic Encephalopathy 80
Micrognathia, High palate, Smooth philtrum, Wide mouth, Death in infancy, Long philtrum, Tented u... OMIM:618580
Keratoderma Hereditarium Mutilans
Cleft palate, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:494
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis ORPHA:38
Congenital Sialidosis Type 2
Petechiae, Ascites, Edema, Gingival overgrowth, Respiratory tract infection, Generalized hypertri... ORPHA:93400
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cleft palate, Macroglossia, Bifid uvula, Patent ductus arteriosus, Retrognathia, Protruding tongue OMIM:612938
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Raine Syndrome
Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Mandibular prognathia, Neonatal... OMIM:259775
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Ehlers-Danlos Syndrome, Hypermobility Type
Hyperextensible skin, Soft skin, Striae distensae OMIM:130020
Kleefstra Syndrome 1
Tracheobronchomalacia, U-Shaped upper lip vermilion, Macroglossia, Obesity, Recurrent respiratory... OMIM:610253
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Hyperextensible skin, Thin skin, Petechiae OMIM:225310
Rare Cutaneous Lupus Erythematosus
Deep dermal perivascular inflammatory infiltrate, Pustule, Cutaneous photosensitivity, Psoriasifo... ORPHA:535
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Nonimmune hydrops fetalis, Dysphagia, Petechiae, Ascites, Neonatal d... OMIM:608013
Fontaine Progeroid Syndrome
Smooth philtrum, Hypoplastic nipples, Death in infancy, Oligodontia, Neonatal death, Dermal trans... OMIM:612289
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Abnormal elasticity of skin, High palate, Respiratory insufficiency ... ORPHA:486815
Proteus Syndrome
Facial hyperostosis, Mandibular hyperostosis, Open mouth, Hyperkeratosis OMIM:176920
Lethal Recessive Chondrodysplasia
Macroglossia, Generalized osteosclerosis, Edema, Polyhydramnios, Respiratory distress, Accelerate... ORPHA:1423
Ectodermal Dysplasia-Skin Fragility Syndrome
Failure to thrive, Pruritus, Chapped lip, Palmoplantar keratoderma, Follicular hyperkeratosis, Re... ORPHA:158668
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Cough, Respirat... ORPHA:1302
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Thin skin, Lack of skin ela... ORPHA:90153
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... OMIM:613102
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Acantholysis, Neonatal death OMIM:609638
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Macroglossia, Protruding tongue OMIM:227250
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Xerostomia, Failure to thrive, Breast aplasia, Generalized hypopigmentation of... ORPHA:238468
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial edema OMIM:155900
Dystonia 31
Dysphagia, Abnormal posturing OMIM:619565
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Angelman Syndrome
Widely spaced teeth, Wide mouth, Macroglossia, Mandibular prognathia, Drooling, Hypoplasia of the... OMIM:105830
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Gait disturbance, Sparse hair, Ataxia ORPHA:1174
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Steppage gait, Penetrating foot ulcers, Cough, Inability to walk, Poor wound heal... ORPHA:36386
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Gaucher Disease Type 2
Dystonia, Dysphagia, Abnormal pattern of respiration, Cough, Respiratory distress, Recurrent resp... ORPHA:77260
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Crackles, Pericard... ORPHA:79126
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Micrognathia, High palate, Redundant neck skin, Macroglossia, Malar flatteni... OMIM:214100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczema, Superficial dermal perivascular inflammatory infiltrate, Failure to thrive, Seborrheic de... ORPHA:83617
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Acantholysis, Failure to thrive, Nail dystrophy, Alopecia, Palmoplantar keratos... OMIM:607655
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Death in infancy, Wide mouth, Short philtrum, Rhizomelia, Short foot, Short palm, H... ORPHA:163966
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis OMIM:104100
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:254210
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Prominent eyelashes, Failure to thrive, Gingival overgrowth, Recurrent pneumonia, ... OMIM:619179
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Anal margin squamous cell carcinoma, Hyperkeratosi... ORPHA:79145
Kid Syndrome
Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess formation, Progeroid facial ap... ORPHA:477
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Long philtrum, Macroglossia, Webbed neck, Obesity, Protruding tongue, Dental crowdin... OMIM:141750
Dyskeratosis Congenita, Autosomal Recessive 6
Ataxia, Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis OMIM:615993
Pachyonychia Congenita
Failure to thrive, Nail dystrophy, Alopecia, Palmoplantar keratoderma, Linear arrays of macular h... ORPHA:2309
Chronic Mucocutaneous Candidiasis
Abnormal lip morphology, Cheilitis, Pruritus, Erythema, Abnormal dental enamel morphology, Abnorm... ORPHA:1334
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Pseudoxanthoma Elasticum
High palate, Excessive wrinkled skin, Pruritus, Acne, Striae distensae, Lack of skin elasticity, ... ORPHA:758
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Protruding tongue, Short philtrum, Patent ductus arteriosus OMIM:300963
Prolidase Deficiency
Carious teeth, Micrognathia, Pruritus, Erythema, Palmoplantar keratoderma, Hypoplasia of the zygo... ORPHA:742
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Failure to thrive, Thin vermilion border, Thin skin, Respiratory distress, Oligoh... ORPHA:261304
Pili Torti-Onychodysplasia Syndrome
Cleft palate, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Nail dystrophy, Congenita... ORPHA:2890
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Erythroderma, Chronic oral candidi... OMIM:606367
Catel-Manzke Syndrome
Highly arched eyebrow, Cleft palate, Failure to thrive, Glossoptosis, Camptodactyly of finger, Jo... ORPHA:1388
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Redundant skin OMIM:301021
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Pustule, Stomatitis, Osteomyelitis, Fused cervical vertebrae, Respi... OMIM:612852
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Central apnea, Ataxia, Cyanosis, Lethargy ORPHA:71277
Leukocyte Adhesion Deficiency Type Ii
Broad eyebrow, Premature loss of teeth, Low anterior hairline, Long upper lip, Small for gestatio... ORPHA:99843
Riddle Syndrome
Telangiectasia, Gait disturbance, Pneumonia, Weight loss, Chronic sinusitis, Erythema, Conjunctiv... ORPHA:420741
Pemphigus Erythematosus
Oral ulcer, Malar rash, Acantholysis ORPHA:79480
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Failure to thrive, Edema, Recurrent pneumonia, Recurrent bronchiolitis, Dehydration, Epi... OMIM:616069
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight, Po... OMIM:300580
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Failure to thrive in infancy, Respiratory insufficiency, Respiratory insufficiency due... ORPHA:254875
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Hyperextensible skin ORPHA:300179
Solar Urticaria
Wheezing, Abnormal lip morphology, Angioedema, Pruritus, Edema, Abnormal tongue morphology, Dyspn... ORPHA:97230
Idiopathic Bronchiectasis
Wheezing, Productive cough, Cachexia, Crackles, Abnormal respiratory system physiology, Bronchiec... ORPHA:60033
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter... ORPHA:90186
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema, Dry skin OMIM:308800
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Micrognathia, Cleft palate, Glossoptosis, Short mandibular rami, Narr... OMIM:614669
Ehlers-Danlos Syndrome, Classic Type, 2
Generalized joint laxity, Joint hypermobility, Soft, doughy skin, Hyperextensible skin, Soft skin... OMIM:130010
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydra... ORPHA:2759
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Cyanosis ORPHA:91130
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Cleft palate, Acantholysis, Absent hair, Absent eyebrow, Absent eyel... ORPHA:158687
Congenital Disorder Of Glycosylation, Type Iie
Smooth philtrum, Hypertrichosis, Respiratory insufficiency, Low anterior hairline, Failure to thr... OMIM:608779
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Malar flattening, Anal atresia, Short mid... OMIM:190685
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Leukodystrophy, Hypomyelinating, 17
Widely spaced teeth, Hirsutism, Gingival overgrowth, Respiratory distress, Flexion contracture OMIM:618006
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Pulmonary f... ORPHA:1839
9q subtelomeric deletion syndrome
Protruding tongue, Synophrys DECIPHER:52
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi... ORPHA:79397
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Sparse hair, Thick eyebrow OMIM:606242
Mitral Valve Prolapse 1
High, narrow palate, High palate, Striae distensae OMIM:157700
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypertension, Cough,... ORPHA:2414
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Icf Syndrome
Macroglossia, Micrognathia, Protruding tongue, Malabsorption ORPHA:2268
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Gingival fibromatosis, Gingival overgrowth, Respiratory distress, Re... ORPHA:1832
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Congenital, generalized hypertrichosis, Palmoplantar cutis laxa, Long philtrum,... ORPHA:363705
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Carious teeth, Hyperkeratotic papule, Pruritus, Oral mucosal blisters, Skin vesicle ORPHA:79410
Ullrich Congenital Muscular Dystrophy 1
High palate, Respiratory insufficiency, Failure to thrive, Respiratory insufficiency due to muscl... OMIM:254090
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Macroglossia, Failure to thrive, Downturned corners of mouth, Everted lowe... ORPHA:96147
Toxic Epidermal Necrolysis
Dysphagia, Acantholysis, Polydipsia, Weight loss, Erythema, Cough, Respiratory distress, Abnormal... ORPHA:537
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Degcags Syndrome
Pyloric stenosis, Smooth philtrum, Choking episodes, Delayed skeletal maturation, Oral-pharyngeal... OMIM:619488
Weill-Marchesani Syndrome 2
High palate, Short finger, Short metatarsal, Thickened skin, Tooth malposition, Striae distensae,... OMIM:608328
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... ORPHA:2004
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Erythema, Reduced subcutan... ORPHA:90156
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
X-Linked Dystonia-Parkinsonism
Protruding tongue, Aspiration pneumonia, Impaired oropharyngeal swallow response ORPHA:53351
Cardiofaciocutaneous Syndrome 3
Wide mouth, Failure to thrive, Webbed neck, Reduced bone mineral density, Curly hair, Hyperkeratosis OMIM:615279
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Juvenile Sialidosis Type 2
Dysphagia, Generalized hypertrichosis, Gingival overgrowth, Protruding tongue ORPHA:93399
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Cutis laxa, Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pn... ORPHA:90349
Gastroschisis, Abdominal wall defect OMIM:230750
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Furrowed tongue, Gingivitis, Oral leukoplakia, Hyperkerato... OMIM:615726
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Dystonia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronc... OMIM:610978
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Scaling skin, Eczema, Ichthyosis ORPHA:79323
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Milroy Disease
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema ORPHA:79452
Angelman Syndrome
Widely spaced teeth, Dysphagia, Wide mouth, Polyphagia, Mandibular prognathia, Drooling, Protrudi... ORPHA:72
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Follicular hyperkeratosis OMIM:262020
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Respir... ORPHA:264675
Bacterial Toxic-Shock Syndrome
Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Edema, Respiratory distress, Respiratory tract infec... ORPHA:36234
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Low anterior hairline, Anal atresia, Distichiasis, Sparse hair OMIM:227260
Hutchinson-Gilford Progeria Syndrome
Dystrophic toenail, Delayed eruption of teeth, Reduced bone mineral density, Exertional dyspnea, ... ORPHA:740
Radio-Tartaglia Syndrome
Highly arched eyebrow, High, narrow palate, Small nail, Hirsutism, High palate, High anterior hai... OMIM:619312
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Odontoonychodermal Dysplasia
Hypodontia, Erythema, Hypergranulosis, Abnormality of primary teeth, Orthokeratosis, Dry skin, Sm... OMIM:257980
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Respiratory distress, Failure to thrive, Lethargy ORPHA:26792
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Abnormal hair pattern, Anal atresia, Sparse lower ... ORPHA:1807
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis OMIM:615706
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Netherton Syndrome
Fine hair, Eczema, Sparse eyelashes, Abnormal hair morphology, Erythroderma, Acanthosis nigricans... ORPHA:634
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Erythroderma, Ichthyosis, Abnormal lung morphology ORPHA:35173
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Weig... ORPHA:411703
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... ORPHA:70587
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Wide mouth, Hyperventilation, Drooling OMIM:614325
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Respiratory distress, Oligohydramnios, Flexion contracture, Pulmonary ... OMIM:616733
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... OMIM:610910
Premature Aging Syndrome, Penttinen Type
Micrognathia, Thin vermilion border, Delayed eruption of teeth, Hyperkeratosis, Hypoplasia of the... OMIM:601812
Leopard Syndrome 3
Dry skin, Epidermal hyperkeratosis, Hyperkeratosis OMIM:613707
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:605809
Growth Factors, Combined Defect Of
Micrognathia, Narrow mouth, Plantar hyperkeratosis, Scleroderma OMIM:233805
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Hip contracture, Respiratory insufficiency due to muscle weakness, Kne... ORPHA:1143
Geleophysic Dysplasia 1
Smooth philtrum, Wide mouth, Long philtrum, Thickened skin, Short metacarpals with rounded proxim... OMIM:231050
Atypical Werner Syndrome
Abnormal hair morphology, Reduced bone mineral density, White forelock, Increased bone mineral de... ORPHA:79474
Generalized hypotrichosis OMIM:207780
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Thick lower lip vermilion, U-Shaped upper lip vermilion, Macroglossia, Malar flattening, Absent f... OMIM:301040
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Long eyelashes, Alopecia OMIM:275400
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency, Sparse hair OMIM:614438
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin, Sparse eyelashes, Sparse body hair, Slow-growing hair OMIM:618535
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Malabsorption, Arthritis, Skin ras... ORPHA:92
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Carious teeth, Hypodontia, Thickened skin, Erythema, Abnormality of the gingiva, Palmoplantar ker... ORPHA:659
Stevens-Johnson Syndrome
Dysphagia, Acantholysis, Weight loss, Erythema, Cough, Recurrent respiratory infections, Abnormal... ORPHA:36426
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Omphalocele, Small for gestational age, Diastasis recti, Scaling skin, Dry skin OMIM:618419
Popov-Chang syndrome
Long philtrum, Small hand, Short foot, Thick vermilion border, Hyperkeratosis, Dry skin, Thin upp... OMIM:618428
Congenital Myasthenic Syndrome
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... ORPHA:98914
Blomstrand Lethal Chondrodysplasia
Long philtrum, Polyhydramnios, Synostosis of joints, Increased bone mineral density, Accelerated ... ORPHA:50945
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Bradykinesia, Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Sparse body hair, Thin skin ORPHA:1810
Schopf-Schulz-Passarge Syndrome
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... OMIM:224750
Trichothiodystrophy 1, Photosensitive
Fine hair, Tiger tail banding, Erythroderma, Small for gestational age, Brittle hair, Nail dystro... OMIM:601675
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Failure to thrive, Cough, Respiratory distress, Cyanosis, Intercostal retra... ORPHA:91359
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Thick lower lip vermilion, Wide mouth, Macroglossia, Mandibular prognathia, Small hand, Striae di... OMIM:300354
Macs Syndrome
Thick lower lip vermilion, Irregular dentition, High palate, Cutis laxa, Eclabion, Bronchiectasis... OMIM:613075
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Failure... ORPHA:2257
Menkes Disease
Sparse hair, Cutis laxa, Death in childhood OMIM:309400
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Respiratory distress, Wide mouth, Failure to thrive OMIM:300934
Filippi Syndrome
Dystonia, Frontal hirsutism, Sparse hair, Hypertrichosis OMIM:272440
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Failure to thrive, Maculopapular exanthema, Scal... ORPHA:39812
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Tongue fasciculations ORPHA:238329
Joubert Syndrome 1
Highly arched eyebrow, Central apnea, Triangular-shaped open mouth, Macroglossia, Episodic tachyp... OMIM:213300
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Abnormality of primary molar morphology, Micrognathia, Gingival bleeding, Limb underg... OMIM:225410
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empyema, Re... ORPHA:36238
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Neonatal death, Microglossia, Fibular hypoplasia, Hypoplasia of the radius, Short 5... OMIM:227270
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Death in infancy, Esophageal varix, Patent ductus arteriosus... OMIM:614576
Ichthyosis-Prematurity Syndrome
Ichthyosis ORPHA:88621
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Protruding tongue, Drooling OMIM:619580
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Respiratory distress, Death in childhood OMIM:615597
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Basan Syndrome
Palmoplantar keratoderma, Ectodermal dysplasia, Epidermal acanthosis OMIM:129200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Bronchiectasis, Psoriasiform lesion, Failure to thrive, Recurrent pneumonia, Asthma, C... OMIM:614700
Syndromic Recessive X-Linked Ichthyosis
Abnormality of the abdominal wall, Abdominal wall defect, Ichthyosis, Hyperkeratosis, Attention d... ORPHA:281090
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Cutis laxa, Brittle hair, Thick eyebr... ORPHA:2963
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypodontia, Failure to thrive, Joint hypermobility, Respiratory distress, Finger joint hypermobil... ORPHA:544503
Bazex-Dupré-Christol Syndrome
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... ORPHA:113
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Mass Syndrome
Striae distensae OMIM:604308
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Weight loss, Cough, Cyanosis, Decreased DLCO, Restrict... ORPHA:747
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cerebrooculofacioskeletal Syndrome 2
Death in infancy, Sparse hair, Death in childhood OMIM:610756
X-Linked Centronuclear Myopathy
High palate, Pneumonia, Polyhydramnios, Respiratory distress, Recurrent respiratory infections, R... ORPHA:596
Reactive Arthritis
Inflammation of the large intestine, Pustule, Dystrophic fingernails, Respiratory insufficiency, ... ORPHA:29207
Arthrogryposis And Ectodermal Dysplasia
Cleft palate, Oligodontia, Cleft upper lip, Abnormal dental enamel morphology, Hyperkeratosis, Dr... OMIM:601701
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, High palate, Death in infancy, Respiratory distress, Thin upper li... OMIM:615042
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Respiratory distress OMIM:615595
Ehlers-Danlos Syndrome, Periodontal Type, 1
Alveolar bone loss around teeth, Premature loss of teeth, Palmoplantar cutis laxa, Gingival bleed... OMIM:130080
Plummer-Vinson Syndrome
Dysphagia, Geophagia, Cheilitis, Esophageal web, Narrow mouth, Glossitis, Tongue atrophy, Intra-o... ORPHA:54028
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse eyelashes, Sparse hair, Sparse eyebrow, Hypoplastic toenails OMIM:616901
Acquired Hypertrichosis Lanuginosa
Fine hair, Acanthosis nigricans, Macroglossia, Weight loss, Thickened skin, Abnormal eyebrow morp... ORPHA:2221
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, Pedal edema, Interlobular s... ORPHA:199241
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Low anterior hairline, Failure to thrive, Deep philtrum, Osteopenia, Polyhydramnios,... ORPHA:329178
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Edema, Respiratory distress, Abnormal pulmonary interstitial mor... ORPHA:178320
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Hypoplastic nipples, Xerostomia, Sparse lateral eyebrow, Rhinitis, Sparse scalp... OMIM:614941
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:602400
Anaplastic Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Stridor, Weight loss, Cough, Upper airway obstruction, Respirato... ORPHA:142
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Emphysema, Redundant skin, Inguinal hernia OMIM:123700
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, High palate, Hip contract... ORPHA:1145
Coffin-Siris Syndrome 3
Hypertrichosis, Hirsutism, Macroglossia, Long eyelashes, Thick eyebrow, Sparse scalp hair, Sparse... OMIM:614608
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Gingival overgrowth, Furrowed tongue, Everted lower lip vermilion, Generalized hirsutism, Thick v... ORPHA:966
Lelis Syndrome
Carious teeth, Hypodontia, Acanthosis nigricans, Mandibular prognathia, Furrowed tongue, Abnormal... ORPHA:140936
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... ORPHA:60025
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... ORPHA:1433
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Abnormality of the nail, Sparse hair, Toen... OMIM:607823
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Bilateral Perisylvian Polymicrogyria
Distal arthrogryposis, Dysphagia, Pseudobulbar paralysis, Apnea, Drooling, Aspiration, Flexion co... ORPHA:98889
Gm1 Gangliosidosis
Dystonia, Aplasia/Hypoplasia of the abdominal wall musculature, Dysphagia, Gait disturbance, Fail... ORPHA:354
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Skin ulcer, Hyperkeratosis ORPHA:1806
Myopathy And Diabetes Mellitus
Progressive cerebellar ataxia, Respiratory distress, Inability to walk, Tip-toe gait ORPHA:2596
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Cutis laxa, Increased number of skin folds ORPHA:436274
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Psoriasiform lesion, Failure to thrive, Recurrent lower respiratory tract infection... ORPHA:169154
Myotubular Myopathy With Abnormal Genital Development
High palate, Death in infancy, Neonatal death, Polyhydramnios, Joint hypermobility, Respiratory d... OMIM:300219
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas ORPHA:228240
Chitayat Syndrome
Polyhydramnios, Respiratory distress, Abnormal pulmonary interstitial morphology, Thick vermilion... OMIM:617180
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair