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 |
Dermatoleukodystrophy |
|
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 |
Chromomycosis |
|
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 |
Dermoodontodysplasia |
|
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 |
Monilethrix |
|
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 |
Monilethrix |
|
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 |
Gastroschisis |
|
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 |
Aredyld |
|
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 |
Mpdu1-Cdg |
|
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 |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Naxos Disease |
|
Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis... |
OMIM:601214 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk |
OMIM:617977 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Alopecia, Abnormal fingernail morphology, Anorexia, Malabsorption, Hypoplas... |
ORPHA:2930 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Breath-Holding Spells |
|
Cyanosis, Pallor |
OMIM:607578 |
Macs Syndrome |
|
Irregular dentition, Redundant skin, Hyperextensible skin, High palate, Sparse hair, Long philtru... |
OMIM:613075 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth,... |
OMIM:202650 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Protruding tongue, Flexion contracture, Pseudobulbar paralysis, Distal arthrogryposis, Dys... |
ORPHA:98889 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Poor wound healing, Addictive alcohol use, Scaling skin, Cut... |
ORPHA:101330 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Death in childhood |
OMIM:619985 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Falls |
ORPHA:240085 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Lymphedema, Hyperextensible skin, High palate, Sparse hair, Dystrop... |
ORPHA:1340 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Down Syndrome |
|
Redundant neck skin, Aganglionic megacolon, Protruding tongue, Patent ductus arteriosus, Duodenal... |
OMIM:190685 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Thickened skin, Cyanosis, Scleroderma |
OMIM:619793 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Failure to thrive |
OMIM:616974 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Pulmon... |
OMIM:275210 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Edema, Osteoporosis, Obesity, Facial erythema, Abdominal obesity, Thin skin, Ec... |
OMIM:219090 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Pa... |
ORPHA:54028 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Recurrent upper respiratory tract infections, Erythroderma, Recurrent lower ... |
ORPHA:169154 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ... |
OMIM:227270 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:26792 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... |
OMIM:617180 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Cyanosis, Aplasia/Hy... |
ORPHA:3309 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Pyloric stenosis, Cutis laxa, Fine hair, Excessive wrinkled skin, Athetosis, Thin skin, Sparse ha... |
OMIM:614438 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Hyperactivity, Neonatal respiratory distr... |
ORPHA:209905 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
Menkes Disease |
|
Alopecia, Brittle hair, Cutis laxa, Death in childhood, Sparse hair |
OMIM:309400 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of primary teeth, Ca... |
ORPHA:2908 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Weight loss, Ma... |
ORPHA:2221 |
Congenital Myopathy 12 |
|
Death in infancy, Small for gestational age, Polyhydramnios, Akinesia, Respiratory insufficiency ... |
OMIM:612540 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema |
ORPHA:79279 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly |
ORPHA:1010 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Frontal open bite, Micrognathia, Short toe, Gingival overgrowth, Gingival hyperke... |
OMIM:225410 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma |
OMIM:133190 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Anorexia, Dehydration, Choreoathetosis, Failure to thrive |
ORPHA:79312 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Aggressive behavior |
OMIM:237310 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Short metacarpal |
ORPHA:2611 |
Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Edema, Dyspnea, Jaundice, Na... |
ORPHA:90051 |
Gastroschisis |
|
Gastroschisis |
ORPHA:2368 |
Malaria |
|
Respiratory distress, Gait imbalance |
ORPHA:673 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Hypoventilation, Multiple joint contractures, Interphalangea... |
ORPHA:610 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Abnormality of the tongue, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:216866 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Abnormal dental morphology, Abnormality of the dentition, Carious teeth... |
ORPHA:69087 |
Rapp-Hodgkin Syndrome |
|
Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar... |
OMIM:129400 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Loss of ambulation, Exertional dyspnea |
ORPHA:254361 |
Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Sparse hair, Intestinal malrotation |
ORPHA:2301 |
Chime Syndrome |
|
Short palm, Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernum... |
ORPHA:3474 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Osteopenia, Multiple prenatal fractures, Flexion contracture, Hypertrichosi... |
OMIM:271225 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Ataxia, Thickened skin, Unsteady gait, Aplasia... |
ORPHA:354 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Hydrops fetalis, Large for gestational age |
ORPHA:45452 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Deep philtrum, High palate, ... |
OMIM:115150 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod... |
ORPHA:330064 |
Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Oral ulcer, Cough, Pleural effusion... |
ORPHA:3392 |
Hartnup Disorder |
|
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder |
OMIM:234500 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper li... |
ORPHA:2707 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Skin rash, Cutis marmorata, Abnormal pleura morphology, Sinu... |
ORPHA:183 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Recurrent respiratory infections, Neonatal respiratory distress, Hyperextensibility of the finger... |
OMIM:618356 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Eosinophilic infiltration of the esophagus, High, narrow palate, Emphysema, Pneumot... |
OMIM:614816 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Sparse hair, ... |
OMIM:305100 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Temporomandibular joint crepitus... |
ORPHA:2388 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Thickened skin, Skin ulcer, Scaling skin, Chylothorax, Pleural effusion, Dry s... |
ORPHA:2526 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Nonimmune hydrops fetalis, Palpebr... |
OMIM:137940 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Anorexia, Cough |
ORPHA:99825 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, A... |
ORPHA:140936 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Fetal ascites, Facial erythema, Scaling skin, Aspiration, Neonatal respiratory distress, U... |
OMIM:619503 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, High, narrow palate, Knee flexion contracture, C... |
OMIM:608799 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Respiratory distress, Death in infan... |
OMIM:184260 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Malar flattening |
ORPHA:28378 |
Donohue Syndrome |
|
Delayed skeletal maturation, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Hyperker... |
OMIM:246200 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Sparse eyelashes, Tremor, Inability to walk, Sparse eyebrow, Dysm... |
OMIM:617988 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Dysmetria, Dystonia, Sparse hair, Hirsutism |
OMIM:618087 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Ataxia, Apnea, Difficulty walking |
ORPHA:79097 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism |
OMIM:616819 |
Diaphanospondylodysostosis |
|
Respiratory distress, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentat... |
ORPHA:66637 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair |
ORPHA:79402 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Recurrent fractures, Thickened skin, Na... |
OMIM:601812 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Prolonged neonatal jaundice, Umbilical hernia, D... |
ORPHA:226313 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cutis laxa, Athetosis, Hyperextensible skin, Thin skin, Sparse hair |
OMIM:219150 |
Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Hypertrichosis, Dystonia |
OMIM:272440 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Agitation, Thin skin, Bruising susceptibility, Striae distensae |
OMIM:219080 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Delayed skele... |
OMIM:619383 |
Mass Syndrome |
|
Striae distensae |
OMIM:604308 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Epiphyseal stippling, Death in infancy |
OMIM:614876 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Sparse hair, Aspiration pneumonia, Dysphagia, L... |
OMIM:618253 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Agitation, Thin skin, Bruising susceptibility, Striae distensae |
OMIM:610475 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Hypoplastic philtrum, Protru... |
OMIM:309580 |
Congenital Myopathy 9A |
|
Death in infancy, Obesity, Akinesia, Oligohydramnios |
OMIM:618822 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Hyperextensible skin, High palate,... |
ORPHA:536467 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
Diaphanospondylodysostosis |
|
Respiratory distress, Delayed vertebral ossification, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Failure to thrive in infancy, Ichthyosis |
ORPHA:284417 |
Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ... |
ORPHA:2357 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Abnormal posturing, Micrognathia |
OMIM:614857 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnor... |
OMIM:620233 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Respiratory distress, Dyspnea, Difficulty walking, Cough |
ORPHA:86812 |
2Q32Q33 Microdeletion Syndrome |
|
Aggressive behavior, Cleft palate, Fine hair, High palate, Attention deficit hyperactivity disord... |
ORPHA:251019 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulf... |
OMIM:300953 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, ... |
OMIM:616564 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Episodic tachypnea, High, narrow palate, Abnormal hair whorl, Sparse hair, Bifid uvula |
ORPHA:2872 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Aggressive behavior, Synophrys, Low posterior hairline, Attention deficit hyperactivity d... |
OMIM:619320 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Redundant skin, Acanthosis nigricans, Respiratory failure, N... |
OMIM:616482 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Skin rash, Osteomyelitis, Malabsorpti... |
ORPHA:47 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Failure to thrive, Ataxia, Acrocyanosis, Petechiae |
OMIM:602473 |
Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Eczema, Joint hypermobility, Oral ulcer, Reduced bone mineral density, Downturned ... |
OMIM:617052 |
Dravet Syndrome |
|
Impulsivity, Progressive gait ataxia, Pallor, Obsessive-compulsive trait, Cyanotic episode |
ORPHA:33069 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Polyhydramnios, Frontal balding, Dysphagia, Obsessive-compulsive trait |
OMIM:160900 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Nonimmune hydrops fetalis, Polyhydramnios, Flexion contr... |
ORPHA:367 |
Rat-Bite Fever |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... |
ORPHA:31205 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, H... |
OMIM:618426 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Tented upper lip vermilion, Dental crowding, Nonimmune hyd... |
OMIM:620369 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Cutis marmorata, Recurrent pneumonia, Bronchiectasis, Hyperkeratosis |
OMIM:301220 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Joint hyperflexibility, Dentin... |
ORPHA:166272 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive |
ORPHA:444013 |
Restrictive Dermopathy |
|
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Pulmonary hypoplasia, Webbed neck, Genera... |
ORPHA:1662 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, Dental crowding, Hiatus hernia, Micrognathia, Hyperextensible skin, High palate... |
OMIM:619329 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Atelectasis, White hair, Tr... |
ORPHA:896 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus, Dysphagia, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Agitation, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:927 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Open bite, Skin ulce... |
ORPHA:2907 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal posturing |
ORPHA:157941 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Soft skin, Hyperextensible skin, Striae distensae, Hiatus hernia |
OMIM:606408 |
Poems Syndrome |
|
Edema, Pericardial effusion, Thickened skin, Respiratory insufficiency due to muscle weakness, Ab... |
ORPHA:2905 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, High palate, Chylothorax,... |
OMIM:620278 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis, Obesity |
OMIM:257500 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Colitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis ... |
OMIM:614602 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Thickened skin, Synophrys, Recurrent bron... |
OMIM:617303 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Generalized edema, Skin rash, Maculopapular exanthema, Crackles, Facial ede... |
ORPHA:319213 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Chronic mucocutaneous candidi... |
OMIM:158310 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Choreoathetosis, Dysphagia, Loss of ambulation, Paroxysmal bursts of laug... |
ORPHA:391428 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Inflammatory abnormalit... |
ORPHA:95455 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia, Knee flexion contracture |
ORPHA:496689 |
Man1B1-Cdg |
|
Thin upper lip vermilion, Joint hypermobility, Long eyebrows, Sparse eyebrow, Abnormal position o... |
ORPHA:397941 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysplasia, Sparse ha... |
ORPHA:217346 |
Sialidosis Type 1 |
|
Hyperkeratosis, Ataxia, Gait disturbance, Vascular skin abnormality |
ORPHA:812 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Poor wound healing, Recurrent pneumonia, Respiratory insufficiency, Excessive wr... |
OMIM:225400 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, High, narrow palate |
OMIM:273390 |
Blepharocheilodontic Syndrome 1 |
|
Small nail, Nail dysplasia, Sparse hair, High anterior hairline, Distichiasis, Anal atresia |
OMIM:119580 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Fine hair, Premature graying of hair, Intestinal bleeding, Thin skin, Nail dystro... |
OMIM:612199 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... |
OMIM:614299 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Limitation of joint mobility, Flexion contracture, Redundant skin |
ORPHA:171719 |
Ifap Syndrome 2 |
|
Sparse hair, Atrichia, Nail dystrophy, Perioral erythema |
OMIM:619016 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Flexion contracture, Gingivitis,... |
ORPHA:75496 |
Buerger Disease |
|
Acrocyanosis, Skin ulcer |
ORPHA:36258 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Polyhydramnios, Akinesia, Edema |
OMIM:607598 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Thick lower lip vermilion, Lip telangiectasia, Hyperkeratosis,... |
OMIM:609242 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... |
ORPHA:240094 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios, Generalized hypertrichosis, Long philtrum,... |
ORPHA:50810 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Fetal Akinesia Deformation Sequence |
|
Polyhydramnios, Respiratory insufficiency, Pulmonary hypoplasia, Akinesia |
ORPHA:994 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Inguinal hernia, Prematurely aged appearance, Redundant skin, Telangiectasi... |
ORPHA:3342 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Ataxia, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Im... |
ORPHA:2131 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Folliculit... |
OMIM:167210 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Short middle phalanx of finger, Abnormal dental enamel morphology, Ichthyosis |
ORPHA:1005 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Anorexia, Malabsorption, Pustule, Eryth... |
ORPHA:37 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Noonan Syndrome 2 |
|
Micrognathia, Patent ductus arteriosus, Hyperkeratosis, Hyperextensible skin, High palate, Palmop... |
OMIM:605275 |
Moebius Syndrome |
|
Respiratory distress, Abnormality of the dentition, Dysphagia, High palate, Camptodactyly, Arthro... |
OMIM:157900 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma... |
ORPHA:137888 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Skin ra... |
ORPHA:464 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Maculopapular exanthema, Conical tooth, Erythema, Hyperkeratosis, Olig... |
OMIM:308300 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Epistaxis, Malabsorption, Anorexia, ... |
ORPHA:79430 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Respiratory failure, Dysphagia, Loss of ambulation |
OMIM:620166 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Small for gestational age, Diastasis recti, Scaling skin, Dry skin |
OMIM:618419 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Downturned corners of mouth, High palate, Compulsive behaviors, Abnormal re... |
ORPHA:177907 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Micrognathia, Cutis laxa |
OMIM:301045 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Joint laxity, Absent sternal ossification, Small for gest... |
OMIM:224690 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... |
ORPHA:26793 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dry skin, Dystrophic fingernails, ... |
OMIM:150400 |
Chiari Malformation Type Ii |
|
Cyanosis, Ataxia, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Malar fl... |
ORPHA:1387 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Tachypnea, Anomalous pulmonary venous return, Hypoxemia, Fai... |
ORPHA:860 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia |
OMIM:613435 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Agitation, Thin skin, Bruising susceptibility, Striae distensae |
OMIM:610489 |
Hypocomplementemic Urticarial Vasculitis |
|
Skin rash, Ataxia, Pruritus, Pericardial effusion, Angioedema, Emphysema, Dyspnea, Restrictive ve... |
ORPHA:36412 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Hyperextensible skin, Sparse hair, Alopecia of scalp |
OMIM:615280 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Death in childhood |
OMIM:615597 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Broad-based gait, Thick eyebrow, Synophrys |
OMIM:611091 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Carpal synostosis, Advanced ossification of carpal bones, Cleft palate,... |
OMIM:615349 |
Farber Disease |
|
Respiratory distress, Failure to thrive, Nodular pattern on pulmonary HRCT, Atelectasis, Recurren... |
ORPHA:333 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... |
OMIM:608615 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Inguinal hernia, Neonatal respiratory distress, Polyhydramnios, Akinesia, Restr... |
OMIM:618947 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... |
OMIM:234050 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Joint stiffness, Cleft palate, A... |
ORPHA:2167 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:607454 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Alopecia, Pulmonary edema, Apnea, Edema, Polyhydramnios, H... |
ORPHA:79330 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Inflammatory abnormality of the skin, Cutis marmorata, Eczema, Pulmonary em... |
ORPHA:3260 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Nail dystrophy, Sparse hair, Oral leukoplakia |
OMIM:616353 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Small for gestational age, Polyhydramnios, Edema,... |
OMIM:607143 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Apnea, Aggressive behavior, Cleft palate, High pal... |
OMIM:612313 |
Oromandibular Dystonia |
|
Respiratory distress, Dysphagia, Weight loss, Abnormal lip morphology, Bruxism |
ORPHA:93958 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Short thumb, Patent ductus arteriosus, Hypoplasia of t... |
ORPHA:1972 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm... |
ORPHA:2038 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Fine hair, Gait ataxia, Truncal ataxia, Sparse hair |
OMIM:616817 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Sparse scalp hair, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth... |
ORPHA:1051 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Cutis laxa |
OMIM:614100 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, High palate, Sparse hair, Anal atresia |
OMIM:616854 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Limited wrist extension, Tr... |
ORPHA:98915 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Micrognathia, Aggressive behavior, Thickened skin, Dental malocclusion, Epidermal th... |
ORPHA:73223 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Macroglossia, Nail dysplasia, Small nail |
OMIM:617396 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Narrow palate, Cleft palate, Anteriorly placed anus, Toot... |
ORPHA:1555 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Failure to thrive, Ataxia, Petechiae |
ORPHA:51188 |
Myasthenic Syndrome, Congenital, 10 |
|
Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity |
OMIM:254300 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Failure to thrive, Dehydration |
OMIM:212140 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Palmoplantar hyperkera... |
OMIM:259100 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair |
ORPHA:659 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy, Aggressive behavior, Gait disturbance, Gait imbalance, Di... |
ORPHA:488627 |
Alg8-Cdg |
|
Failure to thrive, Small for gestational age, Edema, Hydrops fetalis, Cutis laxa, Macroglossia, C... |
ORPHA:79325 |
Manganese Poisoning |
|
Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... |
ORPHA:306682 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Pericard... |
ORPHA:555874 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Death in infancy, Joint laxity, Redundant skin, Periorbital edema, Pyloric stenosis, ... |
OMIM:613177 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Micrognathia, Adenocarcinoma of the colon |
OMIM:620189 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Self-injurious behavio... |
OMIM:620075 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, Short philtrum, Dysphagia |
OMIM:615510 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Failure to thrive, Ataxia, Telangiectasia of the skin, Thickened ski... |
ORPHA:910 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Alopecia, Psoriasiform dermatitis, Gastri... |
ORPHA:37042 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios, Narrow mouth, Microglossia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:990 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Restrictive ventilatory defect, Tongue atrophy, Dysphagia |
OMIM:158900 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Highly arched eyebrow, Craniosynostosis, Thick lower lip vermilion, Cutis laxa, Hig... |
OMIM:619451 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Inguinal hernia, Redundant umbilical skin, Polyhydramnios, Cutis laxa, Hyperextens... |
OMIM:614557 |
Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Inability to walk, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilati... |
OMIM:225750 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin |
OMIM:268020 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal dental enamel morphology, Carious teeth, Xerostomia, Or... |
ORPHA:1896 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Inguinal hernia, Hyperextensible skin, Thin skin, Soft skin, Bruising susceptibility |
OMIM:225320 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
Fucosidosis |
|
Acrocyanosis, Failure to thrive, Generalized hyperkeratosis, Vascular skin abnormality |
ORPHA:349 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid facia... |
OMIM:123700 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal patte... |
ORPHA:31826 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Low posterior hairline, Webbed neck, Sparse hair |
OMIM:613224 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Deep philtrum, Recurren... |
ORPHA:314655 |
Warburg-Cinotti Syndrome |
|
Dental crowding, Ankle flexion contracture, Erythema, Pneumothorax, Gingival overgrowth, Osteolyt... |
OMIM:618175 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Cleft palate, Dysph... |
OMIM:242840 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Redundant skin, Thick hair, Cutis laxa, Excessive wrinkled skin, Coarse hair... |
ORPHA:357074 |
Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Edema, Pruritus, Periorbital edema,... |
ORPHA:221 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, High, narrow palate, Short toe, Submucous... |
ORPHA:3201 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Redundant neck skin, Craniosynostosis, Acanthosis nigricans, G... |
OMIM:123790 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Respiratory failure, Pulmonary hypoplasia, Respiratory distress |
OMIM:617895 |
Q Fever |
|
Respiratory distress, Maculopapular exanthema, Pneumonia, Anorexia, Pericardial effusion, Abnorma... |
ORPHA:781 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Alveolar bone loss around teeth, Hiatus hernia, Intestinal perforation, Generalized... |
OMIM:130080 |
Postencephalitic Parkinsonism |
|
Cough, Abnormal respiratory system physiology, Akinesia, Dysphagia |
ORPHA:97349 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:615108 |
Scarf Syndrome |
|
Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck, Sparse hair |
ORPHA:3134 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Compulsive behaviors, Abn... |
ORPHA:534 |
Hypophosphatasia |
|
Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Abnormality of the dentition... |
ORPHA:436 |
Mgat2-Cdg |
|
Respiratory distress, Osteopenia, Dental crowding, Hydrops fetalis, Stereotypical hand wringing, ... |
ORPHA:79329 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Dysphagia |
ORPHA:89844 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Pleural effusion, Sparse body hair |
ORPHA:69735 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair, High palate, Dysphagia |
OMIM:620001 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Polyhydramnios, Fetal ascites, Neonatal asphyxia, Abnormal lung m... |
ORPHA:141127 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weight loss, Re... |
OMIM:233450 |
Cushing Disease |
|
Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Increased body weight, Recurrent cutan... |
ORPHA:96253 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Inguinal hernia, Failure to thrive |
OMIM:619272 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Carious teeth, Cutis laxa, Excessive w... |
OMIM:219200 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive, Flexion contracture |
OMIM:618201 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Pulmonary hypoplasia, Akinesia, Edema |
OMIM:253290 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Death in childhoo... |
OMIM:220110 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Chromosome 5P13 Duplication Syndrome |
|
Low posterior hairline, Self-injurious behavior, High palate, Compulsive behaviors, Sparse hair, ... |
OMIM:613174 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, Retrognathia, Hypoplastic cervical vertebrae |
OMIM:620269 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, High, narrow palate, Low anterior hairline, Thin eyebrow, Sparse hair, Pili tor... |
ORPHA:1787 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Periorbital wrinkles, Sparse eyebrow |
OMIM:224900 |
Adnp Syndrome |
|
Respiratory distress, Sparse scalp hair, Thin upper lip vermilion, Joint laxity, Oral-pharyngeal ... |
ORPHA:404448 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Knee flexion contracture, Smooth tongue, Sparse hair, Pursed lips, Death in infancy, Osteo... |
OMIM:601559 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Mycetoma |
|
Recurrent bacterial skin infections, Osteomyelitis, Osteoporosis, Painless fractures due to injur... |
ORPHA:2583 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Premature loss of permanent teeth, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Scler... |
OMIM:610644 |
Fanconi Anemia, Complementation Group S |
|
Ataxia, Low anterior hairline, Narrow palate, Long eyelashes, Sparse hair |
OMIM:617883 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Dental crowding, Intestinal malrotation, Repeated pneumothoraces, ... |
OMIM:617602 |
Ogden Syndrome |
|
Torticollis, High, narrow palate, Cutis laxa, Fine hair, Shuffling gait, Lethargy, Aplasia/Hypopl... |
ORPHA:276432 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline, High palate, Attention deficit hyperactivity disorder |
ORPHA:284180 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Limited hip extension, Polyhydramnios, Generalized joint ... |
OMIM:100800 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Failure to thrive, Tachypnea, Cyanosis |
ORPHA:3426 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Necrotizing Enterocolitis |
|
Small for gestational age, Apnea, Edema, Gastroschisis, Ascites |
ORPHA:391673 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Progeroid facial appearance, Prominent veins... |
ORPHA:2962 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Fabry Disease |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Anorexia, Lymphedema, Dys... |
ORPHA:324 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:615109 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Thick eyebrow, Recurrent respiratory infections, Hyperactivity, Restles... |
OMIM:300534 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Malar rash |
ORPHA:85436 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive |
ORPHA:370924 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Respiratory distress |
ORPHA:289916 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Acquired Purpura Fulminans |
|
Skin rash, Acrocyanosis, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Micrognathia, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, High, narrow palate, Low posterior hairline, Webbed neck, Sparse hair... |
OMIM:619745 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Osteopenia, Arthralgia/arthritis, Dental crowding, Spontaneous pneum... |
ORPHA:558 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of the l... |
ORPHA:2457 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Malar f... |
OMIM:241310 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Polyhydramnios, Decreased cranial base ossification, Stillbirth, Pulmonary ... |
OMIM:151210 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Abnormal lung morphology, Wheezing, Knee osteoar... |
ORPHA:2035 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Failure to thrive, Truncal ataxia |
OMIM:614407 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Fetal ascites, Polyhydramnios, Pericardial effusion, Hydrops fet... |
ORPHA:292 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Agel Amyloidosis |
|
Tongue atrophy, Ataxia, Xerostomia, Cutis laxa, Nail dystrophy, Sparse hair, Dry skin |
ORPHA:85448 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Dysphagia, Titubation |
ORPHA:225147 |
Episodic Ataxia Type 1 |
|
Choreoathetosis, Tip-toe gait, Respiratory distress |
ORPHA:37612 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Plethora, Acne, Dorsocervical fat pad, Increased body weight, Abdominal obesity, Bruising suscept... |
ORPHA:189427 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia |
OMIM:606693 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Cleft palate, Restrictive ve... |
OMIM:183900 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Edema, Polyhydramnios... |
OMIM:269860 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Thin upper lip vermilion, Respiratory distress, Sparse eyelashes, ... |
OMIM:612863 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Highly arched eyebrow, Limited elbow movement, Limited knee flexion, Elbow flexio... |
OMIM:615065 |
Secondary Short Bowel Syndrome |
|
Dehydration, Weight loss, Gastroschisis, Failure to thrive, Polyphagia |
ORPHA:95427 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Sparse eyebrow, Sparse hair, Anal atresia |
ORPHA:884 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Neonatal respiratory distress, Thick hair, Supernumerary nipple, Cleft up... |
OMIM:605039 |
Tetanus |
|
Respiratory distress, Tachypnea, Stiff neck, Dysphagia |
ORPHA:3299 |
Scarf Syndrome |
|
Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck, Spar... |
OMIM:312830 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Abnormal... |
OMIM:613443 |
Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Thick vermilion border, Widely spaced teeth, Respiratory distress |
OMIM:617102 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Thick eyebrow, Intestinal malrotation, Highly arched eyebrow, Supernumerary nip... |
OMIM:615485 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... |
ORPHA:31204 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Dysphagia |
OMIM:128100 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Joint laxity, Abnormality of the dentitio... |
OMIM:300968 |
Kniest Dysplasia |
|
Respiratory distress, Inguinal hernia, Gait disturbance, Tracheomalacia, Umbilical hernia |
OMIM:156550 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Failure to thrive, Small for gestational age, Akinesia, Death in childhood |
OMIM:619147 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive, Dehydration |
OMIM:251000 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Bilateral cleft lip and palate, Dystrophic toenail, N... |
ORPHA:3253 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Carious teeth, Abnormal respirato... |
ORPHA:93346 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pericardial effusion, Anasarca, Peripheral edema, Pleural ... |
OMIM:261740 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis, Pedal edema |
ORPHA:439 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Synophrys, Low anterior hairline, Fine hair, Sparse hair |
ORPHA:391408 |
Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema, Weight loss |
ORPHA:3165 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Redundant skin, Cutis laxa, Umbilical hernia, ... |
OMIM:219100 |
Rodrigues Blindness |
|
Sparse hair, Nasal flaring, Fine hair |
OMIM:268320 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, High palate, Dystonia |
OMIM:614105 |
Cowden Syndrome 1 |
|
Colonic diverticula, Acrokeratosis, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperke... |
OMIM:158350 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Dry skin, Nail pits, Thin skin... |
OMIM:103285 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Cleft palate, Lobulated tongue, High ... |
OMIM:258860 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Jaundice, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, ... |
OMIM:180849 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Osteopenia, Apnea, Recurrent fractures, Camptodactyly of finger, Abnormalit... |
ORPHA:3206 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Death in childhood |
OMIM:610756 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Pierre-Robin sequence, ... |
OMIM:217980 |
Meckel Syndrome 14 |
|
Cyanosis, Increased nuchal translucency, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypopl... |
OMIM:619879 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Thick hair, Joint stiffness, Thickened sk... |
ORPHA:505248 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Cranioectodermal Dysplasia 4 |
|
Joint hypermobility, Sagittal craniosynostosis, Recurrent pneumonia, Decreased nasal nitric oxide... |
OMIM:614378 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Ataxia |
ORPHA:254913 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Pallor, Cough, Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance |
ORPHA:240071 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Osteopenia, Joint laxity, Pyloric stenosis, Generalized joint laxity, Recur... |
OMIM:613848 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Braddock-Carey Syndrome 1 |
|
Anteriorly placed anus, Curly hair, Sparse hair, Cleft palate |
OMIM:619980 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Ataxia, Dyspnea, Nail pits, Premature graying of hair, Interstitial pneumo... |
OMIM:127550 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Flexion contracture, Tongue fasciculations, Respiratory insufficiency |
OMIM:614678 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... |
ORPHA:920 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... |
ORPHA:980 |
Radio-Renal Syndrome |
|
Respiratory distress, High, narrow palate, Dyspnea, Downturned corners of mouth, Respiratory fail... |
ORPHA:3015 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Erosion of oral mucosa, Recurrent skin infections, Abnormal oral ... |
ORPHA:79404 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Polyhydramnios, Recurrent pneumonia, Dehydration, Choreoathetosis |
OMIM:616271 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate, Sparse hair |
ORPHA:2316 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia |
ORPHA:79280 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Apnea, Thin nail, Aggressive behavior, Inability to walk, Bruxism, Sparse hair, Dry skin,... |
OMIM:617799 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Hyperactivity, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Recurren... |
OMIM:234100 |
Adrenocortical Carcinoma |
|
Striae distensae, Hypertrichosis |
ORPHA:1501 |
Ramon Syndrome |
|
Delayed eruption of teeth, Hyperkeratosis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Polyhydramnios, Delayed epiphyseal ossification... |
OMIM:114290 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Apla... |
ORPHA:989 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... |
OMIM:164310 |
Immunodeficiency 49 |
|
Natal tooth, Psoriasiform dermatitis, Micrognathia, Cutis laxa, Short philtrum |
OMIM:617237 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Ataxia, Apnea, Respiratory insufficiency, Respiratory failure, Failur... |
OMIM:252010 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Anorexia, Small cell lung carcinoma, I... |
ORPHA:99889 |
Giant Cell Arteritis |
|
Alopecia, Epistaxis, Abnormal pleura morphology, Joint stiffness, Anorexia, Recurrent pharyngitis... |
ORPHA:397 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Erythema, Tachypnea, Nail dystrophy, Periungual erythema, Sparse hair |
OMIM:615934 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Aggressive behavior |
OMIM:300894 |
Arterial Tortuosity Syndrome |
|
Soft, doughy skin, Inguinal hernia, Progeroid facial appearance, Hiatus hernia, Pulmonary artery ... |
OMIM:208050 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Sparse eyebrow, Cleft palate, Low posterior hairline, Bifid uvula |
OMIM:606164 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Craniosynostosis, High, narrow palate, Dyspnea, Su... |
ORPHA:2554 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Sparse hair, Microdon... |
OMIM:129900 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Webbed neck, Generalized e... |
OMIM:617478 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Thickened skin, Head-banging, Anasarca,... |
ORPHA:86309 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Retrognathia, Narrow palate, Downturne... |
OMIM:620107 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Aggressive behavior, High, narrow palate, Low anteri... |
OMIM:601358 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Malabsorption, Anorexia, Xerostomia, Hamartomatous polyposis, Protein-losing ... |
OMIM:175500 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Fine hair, Cutis laxa, Sparse hair, Dry skin |
OMIM:614099 |
Hereditary Folate Malabsorption |
|
Cheilitis, Glossitis, Pallor, Anorexia |
ORPHA:90045 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, High p... |
OMIM:617506 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Death in infancy, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:570 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Brittle hair, Submucous cleft hard palate, Fine hair, Dysdiadochokinesis, Spars... |
OMIM:618891 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Micromelia, Micrognathia, Cleft palate, Glossoptosis |
ORPHA:440354 |
Parkes Weber Syndrome |
|
Prominent superficial blood vessels, Scaling skin, Skin ulcer |
ORPHA:90307 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Broad-based gait, Ataxia, Jaundice, Ascites, Acral ulceration, Prolonged ne... |
OMIM:256810 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog... |
OMIM:618021 |
C Syndrome |
|
Short metacarpal, Accessory oral frenulum, Micromelia, Micrognathia, Patent ductus arteriosus, Cu... |
OMIM:211750 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Inflammation of the large intestine, Nail dystrophy, Recurrent sinusitis |
ORPHA:98813 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Stiff neck, Anorexia, Elbow flexion contracture, Res... |
ORPHA:79139 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hair, Dry skin |
OMIM:613026 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Poor wound healing, Hyperextensible skin, Thin skin, Difficulty walking, Follicu... |
ORPHA:536545 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema, Hypoplasia of the nasal bone |
OMIM:118650 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Narrow palate, Fine hair, Thin eyebrow, ... |
OMIM:190350 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Cleft palate, Self-injurious behavior, Tics, H... |
OMIM:616364 |
Tarp Syndrome |
|
Broad-based gait, Cyanosis, Apnea, Pulmonary hypoplasia, Failure to thrive |
ORPHA:2886 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Weight loss, Agitation, Shuffling gait, Dysphagia |
ORPHA:411602 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Flexion contracture, Knee flexion contracture, Short philtrum, D... |
OMIM:210710 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Failure to thrive |
OMIM:615595 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes, Malabsorption, Sparse... |
OMIM:250250 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Recurrent respiratory infections, Alopecia, Abnormal dental morphology, Eczema, Sma... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Recurrent respiratory infections, Alopecia, Abnormal dental morphology, Eczema, Sma... |
ORPHA:363958 |
Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia |
ORPHA:3163 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia |
ORPHA:247234 |
Mohr Syndrome |
|
Short palm, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, C... |
OMIM:252100 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,... |
OMIM:617114 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Cyanosis |
ORPHA:3304 |
Cardiac Valvular Dysplasia, X-Linked |
|
Joint laxity, Joint stiffness, Thick vermilion border, Cutis laxa |
OMIM:314400 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, High palate, Sparse hair, Fragile nails |
ORPHA:77258 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema |
OMIM:115197 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Cough, Dyspnea, Respiratory failure, Agitation, Decre... |
ORPHA:340 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Oral-pharyngeal dysphagia, Tremor, High, narrow palate, Synophrys, Gait disturbance, Gait... |
OMIM:300966 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Limitation of joint mobility, Cleft palate, High pa... |
ORPHA:93259 |
Chronic Graft Versus Host Disease |
|
Anorexia, Flexion contracture, Xerostomia, Cough, Skin vesicle, Alopecia, Thickened skin, Bronchi... |
ORPHA:99921 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Polydipsia, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Recu... |
ORPHA:293987 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Patent ductus arterio... |
OMIM:616300 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Revesz Syndrome |
|
Ataxia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia, Ridged fingernail |
OMIM:268130 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Cleft palate, Patchy ... |
OMIM:106260 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, B... |
ORPHA:2001 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Hypoplastic scapulae, Abnormal denta... |
ORPHA:1452 |
Corticobasal Syndrome |
|
Gait disturbance, Akinesia |
ORPHA:454887 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Abnormal fingernail morphology, Malab... |
ORPHA:1775 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Broad-based gait, Aggressive behavior, Cleft palate, Fine hair, High palate, Sparse... |
ORPHA:251028 |
Joubert Syndrome 37 |
|
Sparse hair, High palate |
OMIM:619185 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Chylopericardiu... |
ORPHA:538 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis... |
OMIM:242700 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Cutis laxa |
OMIM:610842 |
Pitt-Hopkins Syndrome |
|
Failure to thrive, Ataxia, Hiatus hernia, Aggressive behavior, Gait ataxia, Self-injurious behavi... |
ORPHA:2896 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macro... |
ORPHA:2483 |
Biotinidase Deficiency |
|
Respiratory distress, Skin rash, Apnea, Ataxia, Eczematoid dermatitis, Hyperventilation |
ORPHA:79241 |
6Q Terminal Deletion Syndrome |
|
Aplasia/Hypoplasia of the ribs, Micrognathia, High, narrow palate, Hyperkeratosis, Thick vermilio... |
ORPHA:75857 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Intestinal malrotation, Facial wrinkling, Pyloric stenosis, Cleft palate, Narrow p... |
OMIM:305450 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramn... |
ORPHA:1790 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Lymphedema, Generalized joint laxity, Flexion contractur... |
ORPHA:536471 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Leprechaunism |
|
Facial hypertrichosis, Thickened skin, Rectal prolapse, Megarectum, Hyperkeratosis, Hyperextensib... |
ORPHA:508 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive, Dehydration |
OMIM:251110 |
Anauxetic Dysplasia 3 |
|
Sparse scalp hair, Cutis laxa, Small nail, High anterior hairline, Broad eyebrow |
OMIM:618853 |
Meester-Loeys Syndrome |
|
Joint hypermobility, Gingival overgrowth, High palate, Camptodactyly, Pulmonary artery aneurysm, ... |
OMIM:300989 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Large for gestational age, Obesity, Cutis laxa, Coarse hair, High palate, Long phil... |
OMIM:605309 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol... |
OMIM:174300 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Oral mucosal blisters, Erythema, Palmoplantar keratoderma, Smooth tong... |
ORPHA:79396 |
Sandifer Syndrome |
|
Abnormal posturing, Esophagitis, Hiatus hernia |
ORPHA:71272 |
Loeys-Dietz Syndrome |
|
Micrognathia, Patent ductus arteriosus, Orofacial cleft, High palate, Malar flattening, Bifid uvu... |
ORPHA:60030 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Osteo... |
ORPHA:1546 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia |
OMIM:618249 |
Joubert Syndrome 18 |
|
Lobulated tongue, Retrognathia, Cleft palate |
OMIM:614815 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar... |
ORPHA:438216 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Limitation of joint mobility, Cleft palate, High pa... |
ORPHA:93260 |
Classical Ehlers-Danlos Syndrome |
|
Inguinal hernia, Prematurely aged appearance, Poor wound healing, Hiatus hernia, Incisional herni... |
ORPHA:287 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Emphysema, Premature graying of hair, Sparse hair, Premature sk... |
ORPHA:363618 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Redundant neck skin |
ORPHA:2519 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrops fetalis, Dehydration, Stomatitis, Pulmonary art... |
ORPHA:79282 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Alopecia, Brittle hair, High palate, Sparse hair |
OMIM:608612 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, High, narrow palate, Hypoplastic nipp... |
OMIM:230740 |
Marshall-Smith Syndrome |
|
Irregular dentition, Brittle hair, Apnea, Large sternal ossification centers, Accelerated skeleta... |
OMIM:602535 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia |
ORPHA:206436 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal wrinkled skin of hands and feet, Cutis... |
OMIM:231070 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Joint laxity, Striae distensae, Dental crowding, High palate, Joint hypermobility |
OMIM:617168 |
Plague |
|
Respiratory distress, Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Enterocolitis, S... |
ORPHA:707 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea, Difficulty walking |
OMIM:617239 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Short philtrum, B... |
ORPHA:3241 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Adams-Oliver Syndrome |
|
Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Pulmona... |
ORPHA:974 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Cleft upper... |
OMIM:604292 |
Cohen Syndrome |
|
Macrodontia, Thick hair, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Abnormal... |
ORPHA:193 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Recurrent respiratory infections, Neonatal respir... |
OMIM:616268 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:2750 |
Cocaine Intoxication |
|
Respiratory distress, Diffuse alveolar hemorrhage, Intestinal perforation, Hyperventilation, Whee... |
ORPHA:90068 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Cleft palate, Fine hair, High palate, Nail dysplasia, Sparse hair, Aplasia/Hypoplasi... |
OMIM:614091 |
Leprosy |
|
Hyperkeratosis, Abnormal facial skeleton morphology, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
Loeys-Dietz Syndrome 6 |
|
High palate, Striae distensae |
OMIM:619656 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Pericardial effusion, Cough, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary int... |
OMIM:181000 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Small for gestational age, Delayed skeletal ... |
OMIM:260400 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Mecke... |
OMIM:311900 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Spontaneous pneumothorax, Facial wrinkling, Dysmetria, Gait ataxia, Dysdiadoch... |
OMIM:606721 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Short sternum, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Absent eyelashes, Anteriorly placed anus, Thin skin, Hypoplastic ... |
OMIM:200110 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Aggressive behavior, Unsteady gait... |
ORPHA:17 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Dental crowding, Joint hypermobility, Pneumothorax, Flexion contract... |
OMIM:154700 |
Generalized Pustular Psoriasis |
|
Pustule, Overweight, Cheilitis, Pedal edema, Obesity, Arthritis, Palmoplantar pustulosis, Erythro... |
ORPHA:247353 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Polyhydramnios, Akinesia |
OMIM:225790 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Respiratory distress, Aganglionic megacolon, Failure to thrive in infa... |
ORPHA:798 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Bilateral trilobed lung, Respiratory distress, Cyanosis, Polyhydramnios, Total anoma... |
OMIM:306955 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Increased nuchal translucency, Cleft palate, Furrowed tongue, Downt... |
ORPHA:453499 |
Chand Syndrome |
|
Curly hair, Atelectasis, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Abnormal oral f... |
ORPHA:1401 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Restlessness, Oral-pharyngeal dysphagia, ... |
OMIM:615273 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Abnormality of the dentition, Delayed skel... |
OMIM:151050 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Failure to thrive, Small for gestational age, Intestinal malrotation, D... |
OMIM:613658 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Fine hair, Cutis laxa, Sparse hair, Polyphagia |
OMIM:277590 |
Listeriosis |
|
Respiratory distress, Unusual skin infection, Miscarriage, Pneumonia, Ataxia, Pustule, Jaundice, ... |
ORPHA:533 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Polyhydramnios, Jaundice, Ascites, Failure to thrive |
OMIM:617156 |
Trisomy 8Q |
|
Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morpho... |
ORPHA:1752 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive, Dehydration |
OMIM:251100 |
Relapsing Polychondritis |
|
Alopecia, Atelectasis, Dyspnea, Erythema, Limitation of joint mobility, Anteriorly placed anus, A... |
ORPHA:728 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Gastroschisis |
ORPHA:2476 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Recurrent pn... |
OMIM:306400 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
Hawkinsinuria |
|
Sparse hair, Restlessness |
OMIM:140350 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Recurrent fractures, Joint hypermobility, Accelerated skeletal maturation, Craniosyno... |
OMIM:245600 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Recurrent respiratory infections, Aganglionic megacolon, Abnormal denta... |
ORPHA:2273 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Wei... |
ORPHA:48435 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis... |
ORPHA:1358 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Micrognathia, Hyp... |
ORPHA:958 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Abnormal sweat gland morphology |
ORPHA:247257 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Sparse hair, Pulmonary arterial ... |
OMIM:616449 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Polyhydramnios, Osteoarthritis, Limitation of joint mobility, Clef... |
ORPHA:1427 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Rhizomelia, Micrognathia, Pierre-Robin sequence, Small hand, Cleft pala... |
OMIM:611209 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Pneumonia, Pruritus, Erythema nodosum, Cough, Ost... |
ORPHA:228123 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Sparse hair |
OMIM:616541 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis |
ORPHA:268943 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal lung lobation, Short philtrum, Acne, Abnormal dental enamel morphology, ... |
ORPHA:567 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Micromelia, Cutis laxa, Thin vermilion border, Hypoplasia of the zygomatic bone, Long philtrum |
OMIM:614800 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Ataxia, Slow-growing hair, Abnormal fingernail morphology, Cleft palate... |
ORPHA:2710 |
Orofaciodigital Syndrome Type 6 |
|
Failure to thrive, Apnea, Episodic tachypnea, Hamartoma of tongue, Highly arched eyebrow, Cleft p... |
ORPHA:2754 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Submucous cleft hard pa... |
ORPHA:1071 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Rectal a... |
ORPHA:436252 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, High palate, Short tibia, Hamartoma of tongue, Adactyly, Talon cusp, Hypoplasia of ... |
ORPHA:2751 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Meier-Gorlin Syndrome 4 |
|
Delayed skeletal maturation, Thick lower lip vermilion, Narrow mouth, Emphysema, Failure to thriv... |
OMIM:613804 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Thick eyebrow |
ORPHA:127 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Osteopenia, Recurrent fractures, Polyhydramnios, Fractured rib |
OMIM:618188 |
Loeys-Dietz Syndrome 2 |
|
Eosinophilic infiltration of the esophagus, Micrognathia, Patent ductus arteriosus, Cleft palate,... |
OMIM:610168 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Flexion contracture, Cleft palate, Respiratory insufficiency, Glossoptosis... |
OMIM:254940 |
Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Failure to thrive, Tachypnea, Cyanosis |
ORPHA:3427 |
Lysinuric Protein Intolerance |
|
Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Intraalveolar phospholipid accumu... |
OMIM:222700 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... |
ORPHA:352665 |
Aceruloplasminemia |
|
Akinesia, Ataxia, Limb ataxia, Gait ataxia |
ORPHA:48818 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Esophageal atresia, Deep philtrum, Cleft palate |
OMIM:610536 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Highly arched eyebrow, Cleft palate, Gait ataxia, Fine hair, Hypoplastic nipple... |
OMIM:280000 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, High, narrow palate, Res... |
ORPHA:2108 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency |
OMIM:620285 |
Ogden Syndrome |
|
Redundant neck skin, Apnea, Redundant skin, Lymphedema, Deep philtrum, Short philtrum, High palat... |
OMIM:300855 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Synophrys, Asthma, Nasal flaring, Obesity, Downtur... |
ORPHA:466943 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Doors Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Polyhydramnios, Abnormali... |
ORPHA:79500 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality o... |
ORPHA:289 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse hair, Aplasia of the sweat glands, Dry skin, Sparse scalp hair |
OMIM:612132 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Thick eyebrow, Joint laxity, Small for gestationa... |
ORPHA:508488 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... |
ORPHA:805 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Narrow palate, High palate, Sparse hair, Sparse lateral eyebrow |
OMIM:618644 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Increased bone mineral density, Delayed erup... |
OMIM:119600 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Apnea, Dyspnea, Episodic respiratory distress, Gait ataxia, Dysphagia, Failure to thrive,... |
ORPHA:255210 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Sparse scalp hair, Recurrent respiratory infections, Neonatal respiratory d... |
OMIM:614748 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Pedal edema, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Delayed eruption of teeth, Osteopenia, Camptodactyly of finger, Craniosynos... |
OMIM:166250 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Mesomelic arm shortening, ... |
OMIM:268310 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:276198 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Pedal edema, A... |
ORPHA:97214 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Intestinal malrotation, Sparse eyebrow, High palate, Thin skin, Sp... |
OMIM:244450 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Synosto... |
ORPHA:1507 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... |
ORPHA:1572 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Sparse scalp hair, Recurrent respiratory infections, Failure to thrive, Accessory ora... |
OMIM:266920 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, Spar... |
ORPHA:464738 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Unsteady gait |
OMIM:618733 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Scaling skin |
ORPHA:3464 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Pi... |
ORPHA:90652 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... |
OMIM:311200 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Pyloric stenosis, Pneum... |
OMIM:218040 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Neonatal respiratory distress, Calcaneal epiphyseal stippling, Cleft soft palate, ... |
OMIM:117650 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest, Alopecia, Dehydration |
ORPHA:31824 |
Marshall Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Cleft palate, High palate, Sparse hair |
ORPHA:560 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair |
OMIM:616200 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Cleft palate, Cutis laxa, Rectovaginal fistula, Anal atresia |
OMIM:270420 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Hyperextensibl... |
OMIM:130050 |
Zygomycosis |
|
Unusual skin infection, Sinusitis, Gastritis, Epistaxis, Periorbital edema, Pustule, Atelectasis,... |
ORPHA:73263 |
Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, High palate, Sparse hair, Abnormal numb... |
OMIM:611174 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Short femur, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Mic... |
OMIM:277170 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... |
OMIM:616894 |
Aneurysm-Osteoarthritis Syndrome |
|
Patent ductus arteriosus, Dental malocclusion, Cleft palate, High palate, Malar flattening, Retro... |
ORPHA:284984 |
Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Redundant neck skin, Prematurely aged appearance, Redundant skin, Emphysema, Bro... |
ORPHA:90348 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... |
ORPHA:678 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Ataxia, Abnormal pleura morphology, Gait disturbance, Acrocyanosis |
ORPHA:1764 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Oculodentodigital Dysplasia |
|
Dry hair, Ataxia, Slow-growing hair, Cleft palate, Fine hair, High palate, Sparse hair, Fragile n... |
OMIM:164200 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Gait disturbance, Dysphagia, Obses... |
OMIM:234200 |
Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co... |
ORPHA:201 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Short thumb, Cleft palate, Glossoptosis, Abnormality of fronta... |
ORPHA:436003 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Dermal translucency, Pulmonary artery aneurysm, Cutis laxa, High pal... |
OMIM:614437 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
Menkes Disease |
|
Hypopigmentation of hair, Malabsorption, Hyperextensible skin, Sparse hair, Woolly hair, Dry skin |
ORPHA:565 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Skin rash, Small for gestational age, Tracheoesophageal fistula, High p... |
OMIM:277380 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Acanthos... |
ORPHA:444077 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Tracheoesophageal fistula, Sparse body hair |
ORPHA:3068 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Curly hair, Thin upper lip vermilion, Osteopenia, Hyperextensible thumb, Jo... |
ORPHA:480880 |
Smith-Lemli-Opitz Syndrome |
|
Cutis marmorata, Polyhydramnios, Increased nuchal translucency, Abnormal lung lobation, Self-inju... |
ORPHA:818 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Short s... |
ORPHA:2752 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow |
OMIM:302960 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Cockayne Syndrome B |
|
Dry hair, Ataxia, Tremor, Abnormal hair morphology, Death in childhood, Sparse hair, Dry skin |
OMIM:133540 |
Gitelman Syndrome |
|
Respiratory distress, Salt craving, Pericardial effusion, Gout, Scleroderma, Polydipsia, Failure ... |
ORPHA:358 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Villous atrophy, Brittle hair, Fine hair, Sparse hair, Woolly hair, Bifid uvula, Tric... |
OMIM:222470 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, High palate, Ataxia, Death in childhood |
OMIM:300661 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Erythema, Cleft palate, Facial erythema, Sparse or absent eyelashes, High palat... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Facial erythema, Sparse or absent eyelashes, Attention deficit hyperactivity di... |
ORPHA:221008 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, High, narrow palate, Generalized joint laxity, Hyperextensible... |
OMIM:619472 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Abnormal respiratory system ... |
ORPHA:94068 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Osteoarthritis, Pneum... |
OMIM:613795 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hiatus hernia, Unsteady gait, Sparse hair, Nail dysplasia, Loss of ambula... |
OMIM:616682 |
African Trypanosomiasis |
|
Miscarriage, Akinesia, Aggressive behavior, Pruritus, Jaundice, Weight loss, Choreoathetosis, Gai... |
ORPHA:3385 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, High palate |
ORPHA:50814 |
Nelson Syndrome |
|
Abnormality of the sphenoid sinus, Striae distensae |
ORPHA:199244 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia |
OMIM:614813 |
Teebi-Shaltout Syndrome |
|
Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat... |
OMIM:272950 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Apnea, Aplasia/Hypoplasia of the abdominal wall musculature, Hyperextensible ski... |
ORPHA:285 |
Pseudoxanthoma Elasticum |
|
Decreased DLCO, Civatte bodies, Cutis laxa |
OMIM:264800 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Missing ribs, Dental malocclusion, G... |
ORPHA:97360 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Dental crowding, Pyloric stenosis, Pneumothorax, Oligohydramnios, Cutis laxa, Knee ... |
OMIM:617402 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Small for gestational age, High, narrow palate, Flexion contractur... |
ORPHA:284979 |
Hartnup Disease |
|
Skin rash, Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Osteopenia, Carious teeth, Excessi... |
ORPHA:2834 |
Leptospirosis |
|
Respiratory distress, Skin rash, Anorexia, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage |
ORPHA:509 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Pallor, Angular cheilitis |
ORPHA:35858 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Low posterior hairline, Fine hair, Chylothorax, Webbed neck, Sparse hair |
OMIM:613563 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Microsporidiosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Bronchitis, Cachexia, Anorexia, Dehydration, Weight loss, Rh... |
ORPHA:2552 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Sparse eyelashes, Polyhydramnios, Craniosynostosis, Sparse eyebrow, Recurrent pneum... |
OMIM:613610 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... |
ORPHA:3472 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Craniosynostosis |
ORPHA:531151 |
Au-Kline Syndrome |
|
Failure to thrive, Supernumerary nipple, Sagittal craniosynostosis, Craniosynostosis, Dental malo... |
OMIM:616580 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow |
OMIM:609460 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Cleft palate, Coarse hair, High palate, Sparse hair, Bifid uvula |
OMIM:607812 |
Proteus Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Lymphedema, Carious teeth, Thickened skin, Pulmonary... |
ORPHA:744 |
Constricting Bands, Congenital |
|
Omphalocele, Bladder exstrophy, Abnormal lung lobation, Gastroschisis |
OMIM:217100 |
Cockayne Syndrome A |
|
Dry hair, Ataxia, Tremor, Gait disturbance, Sparse hair, Dry skin |
OMIM:216400 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Recurrent pneumonia, Macroglossia, Tip-toe gait, Death in childhood... |
OMIM:252500 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Fine hair, Choreoathetosis, Dystonia, Sparse hair |
OMIM:241080 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Cleft palate, Stomatitis, Failure to thrive, Glossitis |
ORPHA:79284 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy, Penetrating foot ulcers |
ORPHA:99956 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Redundant neck skin, Polyhydramnios, Large for gestational age, Deep ... |
ORPHA:96334 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Cleft palate, Glossoptosis, Webbed neck, Tracheo... |
ORPHA:1393 |
Kawasaki Disease |
|
Abnormality of nail color, Skin rash, Edema, Recurrent pharyngitis, Cheilitis, Abnormal pulmonary... |
ORPHA:2331 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Humeroradial synostosis, Respiratory failure, Thin vermilion ... |
ORPHA:3404 |
Glucagonoma |
|
Intestinal obstruction, Skin rash, Anorexia, Necrolytic migratory erythema, Pruritus, Weight loss... |
ORPHA:97280 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Abnormal eyelash morphology, Dyspnea, Er... |
ORPHA:2556 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Epistaxis, Highly arched eyebrow, Aggressive behavior, Sparse eyebrow, Asthma,... |
OMIM:619841 |
Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Cyanosis, Edema, Hydrops fetalis, Pulmonary artery atresia |
OMIM:212093 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Cleft palate |
OMIM:613309 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Chilblains, Dry skin, Difficulty walking, Prolonged neonatal jaundice, Acrocyanosis |
ORPHA:51 |
Digeorge Syndrome |
|
Inguinal hernia, Acne, Femoral hernia, Seborrheic dermatitis, Atelectasis, Asthma, Recurrent pneu... |
OMIM:188400 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Redundant skin, Pneumothorax, Cutis laxa, F... |
OMIM:617403 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... |
ORPHA:2909 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Duodenal atresia |
OMIM:614114 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Osteoarthritis, Flexion contracture, Bone pain, Decrease... |
ORPHA:666 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palat... |
OMIM:613091 |
Autosomal Dominant Robinow Syndrome |
|
Short palm, Median cleft lip and palate, Micromelia, Micrognathia, Open bite, High, narrow palate... |
ORPHA:3107 |
Supranuclear Palsy, Progressive, 2 |
|
Falls, Gait imbalance, Akinesia, Dysphagia |
OMIM:609454 |
Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Micrognathia, Patent ductus arteriosus, Cleft palate,... |
OMIM:609192 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Small for gestational age, Pulmonary artery stenosis, Umbilical hernia, Fai... |
ORPHA:2255 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Respiratory distress, Median cleft lip, Accessory oral frenulum, Polyhydramnios, Supernumerary to... |
OMIM:617088 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Cyanosis, Failure to thrive in infancy, Polyhydramnios, Edema, Pericardial ... |
ORPHA:51608 |
Charcot-Marie-Tooth Disease Type 4C |
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Hypoventilation, Tongue atrophy, Respiratory insufficiency, Tongue fasciculations, Difficulty in ... |
ORPHA:99949 |
Cartilage-Hair Hypoplasia |
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Aganglionic megacolon, Malabsorption, Sparse eyebrow, Respiratory insufficiency, Sparse hair |
ORPHA:175 |
Supranuclear Palsy, Progressive, 1 |
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Falls, Gait imbalance, Akinesia, Dysphagia |
OMIM:601104 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Redundant neck skin, Rectal prolapse, High palate, Sparse hair, Soft skin, Frontal hirsutism |
OMIM:617157 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Acute respiratory distress syndrome, Wheezing, Respiratory insufficiency, Cough, Sparse hair, Pul... |
OMIM:620005 |
Distal Deletion 15Q |
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Thin upper lip vermilion, Failure to thrive, Small for gestational age, Abnormality of the dentit... |
ORPHA:1596 |
Stickler Syndrome |
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Recurrent respiratory infections, Slender build, Abnormal dental enamel morphology, Cachexia, Cle... |
ORPHA:828 |
Frontorhiny |
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Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Bifid tongue, Cleft palate |
ORPHA:391474 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Myhre Syndrome |
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Ataxia, Cleft palate, Respiratory insufficiency, Fine hair, Respiratory failure, Sparse hair, Thi... |
OMIM:139210 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Glossoptosis, Respiratory insufficiency |
ORPHA:2031 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Sparse hair, High palate, Attention deficit hyperactivity disorder |
OMIM:619934 |
Monosomy 22 |
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Sparse hair, Synophrys, High palate |
ORPHA:96123 |
Cerebellar-Facial-Dental Syndrome |
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Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Highly arched eyebrow, Rectal prolapse, Thick lower lip ... |
OMIM:303600 |
Orofaciodigital Syndrome Xiv |
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Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
Trichorhinophalangeal Syndrome, Type Ii |
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Chronic gastritis, Sparse scalp hair, Redundant skin in infancy, Recurrent pneumonia, Cutis laxa,... |
OMIM:150230 |
Charcot-Marie-Tooth Disease Type 1F |
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Restless legs, Tongue atrophy, Flexion contracture of finger |
ORPHA:101085 |
Cranioectodermal Dysplasia 1 |
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Slow-growing hair, Short nail, Thin nail, High, narrow palate, Fine hair, High palate, Sparse hair |
OMIM:218330 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Micrognathia, Cleft lip, Patent ductus arteriosus, Furrowed tongue, High palate, Broad alveolar r... |
OMIM:616975 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse scalp hair, Ataxia, Action tremor, Tremor, Synophrys, Aplasia/Hypoplasia of the nails, Thi... |
ORPHA:3455 |
Carney Complex |
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Striae distensae, Neoplasm of the stomach, Esophageal neoplasm, Increased body weight, Neoplasm o... |
ORPHA:1359 |
Catel-Manzke Syndrome |
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Short humerus, Short metacarpal, Short femur, Cleft upper lip, Micrognathia, Short toe, Pierre-Ro... |
OMIM:616145 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Breast hypoplasia, Sparse body hair, Cleft palate |
ORPHA:432 |
Wrinkly Skin Syndrome |
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Redundant skin, Short nail, Neonatal wrinkled skin of hands and feet, High palate, Sparse hair, P... |
OMIM:278250 |
Meckel Syndrome, Type 1 |
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Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Camptodactyly of ... |
OMIM:249000 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Sparse eyebrow, Hypoplastic nipples, Nail dystrophy, Small nail, Sparse hair, Pulm... |
OMIM:620186 |
Acrofacial Dysostosis 1, Nager Type |
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Urticaria, Gastroschisis |
OMIM:154400 |
Multiple Endocrine Neoplasia Type 2 |
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Joint laxity, Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the lung, Thick verm... |
ORPHA:653 |
Renpenning Syndrome 1 |
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Brittle hair, Cleft palate, High palate, Death in childhood, Sparse hair, Anal atresia, Sparse la... |
OMIM:309500 |
Carpenter Syndrome 2 |
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Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, High, narrow palate, Carious teeth, ... |
OMIM:614976 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Tongue atrophy, Flexion contracture of finger, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:466768 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Alopecia, Dyspnea, Submucous cleft hard palate, Loss of eyelashes, Cleft palate, Respiratory fail... |
ORPHA:2636 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Sparse eyebrow, High palate, Nail dystrophy, Death in childhood, Sparse hair |
OMIM:619127 |
Williams-Beuren Syndrome |
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Osteopenia, Rectal prolapse, Flexion contracture, Premature graying of hair, Microdontia, Medial ... |
OMIM:194050 |
Orofaciodigital Syndrome Type 14 |
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Microretrognathia, Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Patent duct... |
ORPHA:434179 |
Focal Dermal Hypoplasia |
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Ridged nail, Brittle hair, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Cleft pal... |
OMIM:305600 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Failure to thrive, Multiple joint contractures, Recurrent pneumonia, Abnorm... |
ORPHA:99646 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata, Dehydration |
OMIM:259900 |
Iniencephaly |
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Omphalocele, Gastroschisis, Polyhydramnios |
ORPHA:63259 |
Primary Hyperoxaluria |
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Acrocyanosis, Failure to thrive, Cutis marmorata |
ORPHA:416 |
Tetraamelia Syndrome 1 |
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Gastroschisis, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Pmm2-Cdg |
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Respiratory distress, Thin upper lip vermilion, Osteopenia, Multiple joint contractures, Joint la... |
ORPHA:79318 |
Primrose Syndrome |
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Restlessness, Sparse scalp hair, Ataxia, Absent facial hair, Aggressive behavior, Synophrys, Self... |
OMIM:259050 |
Scalp-Ear-Nipple Syndrome |
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Sparse hair, Abnormal fingernail morphology, Breast aplasia |
ORPHA:2036 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Roberts Syndrome |
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Sparse hair, High palate, Cleft palate |
ORPHA:3103 |
Congenitally Corrected Transposition Of The Great Arteries |
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Pulmonary artery atresia, Failure to thrive, Cyanosis |
ORPHA:216694 |
Fraser Syndrome |
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Death in infancy, Anal stenosis, Dental crowding, Abnormal hair pattern, Cleft upper lip, Dental ... |
ORPHA:2052 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Anal stenosis, Alopecia, Sparse eyelashes, Intestinal malrotation, Supernumera... |
OMIM:601803 |
Neurocardiofaciodigital Syndrome |
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Sparse hair, High palate, Sparse eyebrow |
OMIM:619869 |
Alström Syndrome |
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Respiratory distress, Abnormality of dental color, Frontal balding, Accelerated skeletal maturati... |
ORPHA:64 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cleft upper lip, Esophageal atresia, Abnormal pelvis bone ossification, Hydrops fetalis, Respirat... |
ORPHA:93271 |
Duplication Of Urethra |
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Gastroschisis |
ORPHA:237 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
Meckel Syndrome |
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Micrognathia, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue |
ORPHA:564 |
Branchiooculofacial Syndrome |
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Supernumerary nipple, Malrotation of colon, Pyloric stenosis, Cleft palate, Low posterior hairlin... |
OMIM:113620 |
Menke-Hennekam Syndrome 1 |
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Cleft palate, Long eyelashes, High palate, Sparse hair, Thick eyebrow |
OMIM:618332 |
Roberts-Sc Phocomelia Syndrome |
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Sparse hair, Stillbirth, High palate, Cleft palate |
OMIM:268300 |