Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 40 |
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Lymphopenia |
OMIM:616433 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
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Hyperkeratotic papule, Carious teeth, Keloids, Mitten deformity, Erythematous papule, Nail dystro... |
ORPHA:79410 |
Immunodeficiency 84 |
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B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Agammaglobulinemia 8, Autosomal Dominant |
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B lymphocytopenia |
OMIM:616941 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Papular Xanthoma |
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Eruptive xanthomas, Skin plaque, Histiocytosis |
ORPHA:158008 |
Wells Syndrome |
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Eosinophilia, Skin vesicle |
ORPHA:901 |
Cernunnos-Xlf Deficiency |
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B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Darier Disease |
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Plantar pits, Abnormal hair morphology, Macule, Subungual hyperkeratotic fragments, Palmoplantar ... |
ORPHA:218 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Immunodeficiency 76 |
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B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Immunodeficiency 8 |
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Lymphopenia |
OMIM:615401 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 13 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Dowling-Degos Disease |
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Hyperkeratotic papule, Abnormality of the hand, Epidermoid cyst, Palmar pits, Erythematous papule... |
ORPHA:79145 |
Erythema Elevatum Diutinum |
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Skin nodule, Skin vesicle |
ORPHA:90000 |
Pemphigoid Gestationis |
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Skin vesicle |
ORPHA:63275 |
Immunodeficiency, Common Variable, 13 |
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Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Cleft palate, Pierre-Robin sequence, Tapered finger, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Familial Benign Chronic Pemphigus |
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Skin erosion, Erythema, Skin vesicle |
ORPHA:2841 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Erythematous plaque, Erythematous papule, Striae distensae, Palmoplantar erythema, Facial erythem... |
ORPHA:64745 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Pyoderma gangrenosum, Abscess, Splenomega... |
OMIM:150550 |
Pyoderma Gangrenosum |
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Atrophic scars, Papule, Myeloid leukemia, Skin ulcer, Skin vesicle |
ORPHA:48104 |
Dermatitis Herpetiformis |
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Microcytic anemia, Macule, Erythema, Skin vesicle |
ORPHA:1656 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Robin Sequence-Oligodactyly Syndrome |
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Abnormality of the ulna, Cleft palate, Hand oligodactyly, Glossoptosis, Abnormality of the dentit... |
ORPHA:3104 |
Hypotrichosis And Recurrent Skin Vesicles |
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Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Follicular hyperkeratosis... |
OMIM:613102 |
Omenn Syndrome |
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B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 68 |
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B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, T lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Iga Pemphigus |
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Annular cutaneous lesion, Skin erosion, Eosinophilia, Skin plaque, Cutaneous abscess, Skin vesicle |
ORPHA:555905 |
Pemphigus Foliaceus |
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Acantholysis, Erythematous plaque, Annular cutaneous lesion, Erythema, Skin erosion, Abnormal ora... |
ORPHA:79481 |
Catel-Manzke Syndrome |
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Highly arched eyebrow, Cleft palate, Short stature, Abnormality of epiphysis morphology, Failure ... |
ORPHA:1388 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, T lymphocytopenia, Lymphopenia |
ORPHA:277 |
Lichen Planus Pemphigoides |
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Hyperkeratosis, Abnormal oral mucosa morphology, Skin vesicle |
ORPHA:254478 |
Immunodeficiency 15A |
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Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
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Papule, Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:257 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
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Erythema migrans, Skin vesicle |
ORPHA:158681 |
Autosomal Dominant Hyper-Ige Syndrome |
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Cleft palate, Abnormal hair morphology, Dystrophic fingernails, Craniosynostosis, Delayed eruptio... |
ORPHA:2314 |
Dyskeratosis Congenita |
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Carious teeth, Short stature, Palmoplantar keratoderma, Periodontitis, Sparse hair, Skin ulcer, A... |
ORPHA:1775 |
Immunodeficiency 70 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
Sweet Syndrome |
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Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Skin nodule, Erythematous plaque, Pyod... |
ORPHA:3243 |
Hennekam-Beemer Syndrome |
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Thick lower lip vermilion, High palate, Macule, Short stature, Failure to thrive, Erythema, Papul... |
ORPHA:2135 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Leukocyte Adhesion Deficiency Type Ii |
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Broad eyebrow, Broad palm, Premature loss of teeth, Intrauterine growth retardation, Low anterior... |
ORPHA:99843 |
Agammaglobulinemia 1, Autosomal Recessive |
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B lymphocytopenia, Neutropenia |
OMIM:601495 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Geographic And Fissured Tongue |
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Geographic tongue, Furrowed tongue |
OMIM:137400 |
Orofaciodigital Syndrome Vi |
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Toe syndactyly, Cleft palate, High palate, Short stature, Postaxial polydactyly, Cleft upper lip,... |
OMIM:277170 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Isolated Congenital Hypoglossia/Aglossia |
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Aplasia/Hypoplasia of fingers, Weight loss, Cleft palate, Microglossia |
ORPHA:141152 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Short stature, Ulnar deviation of finger, Furrowed tongue, Truncal obesity, Camptodactyly of fing... |
ORPHA:2928 |
Immunodeficiency 14A, Autosomal Dominant |
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T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... |
OMIM:615513 |
Pierre Robin Syndrome |
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Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
Faciocardiomelic Dysplasia, Lethal |
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Small for gestational age, Neonatal death, Microglossia, Fibular hypoplasia, Short 5th finger, Hy... |
OMIM:227270 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Porphyria Variegata |
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Anemia, Skin erosion, Milia, Localized skin lesion, Skin vesicle |
ORPHA:79473 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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High, narrow palate, Hypodontia, Low anterior hairline, Tapered finger, Short stature, Glossoptos... |
ORPHA:3201 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, B lymphocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Hepato... |
OMIM:606367 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Abnormality of the elbow, Nail dystrophy, Atrophic scars, Dermal atrophy, Abnormality of the wris... |
ORPHA:89843 |
Isolated Pierre Robin Syndrome |
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Cleft palate, Glossoptosis |
ORPHA:718 |
Orofaciodigital Syndrome Iv |
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Toe syndactyly, Cleft palate, High palate, Hamartoma of tongue, Postaxial polydactyly, Short fing... |
OMIM:258860 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Lethal Faciocardiomelic Dysplasia |
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Intrauterine growth retardation, Radial club hand, Microglossia, Fibular hypoplasia, Short 5th fi... |
ORPHA:1972 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Widely spaced toes, Acantholysis, Mitten deformity, Neonatal death, Alopecia totalis, Aplasia cut... |
OMIM:609638 |
Melkersson-Rosenthal Syndrome |
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Furrowed tongue |
OMIM:155900 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
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Bilateral cleft lip and palate, Broad palm, Cleft upper lip, Abnormality of the tongue, Intestina... |
OMIM:601165 |
Lipoid Proteinosis |
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Thick lower lip vermilion, High palate, Alopecia of scalp, Tongue nodules, Microglossia, Abnormal... |
ORPHA:530 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Ret... |
ORPHA:508542 |
Mohr Syndrome |
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Cleft palate, Short stature, Metaphyseal irregularity, Accessory oral frenulum, Syndactyly, Agene... |
OMIM:252100 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
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High palate, Short philtrum, Short stature, Ulnar deviation of finger, Tooth malposition, Furrowe... |
ORPHA:1387 |
Whistling Face Syndrome, Recessive Form |
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Shoulder flexion contracture, High palate, Talipes equinovarus, Long philtrum, Ulnar deviation of... |
OMIM:277720 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Glossoptosis, Epiphyseal stippling |
OMIM:614876 |
Cleidocranial Dysplasia |
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Carious teeth, Cleft palate, Short stature, Dystrophic toenail, Abnormal dental enamel morphology... |
ORPHA:1452 |
Epilepsy, Progressive Myoclonic, 9 |
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Short thumb, Microglossia |
OMIM:616540 |
Odontoonychodermal Dysplasia |
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Fine hair, Plantar hyperkeratosis, Hypodontia, Dry hair, Dystrophic fingernails, Dystrophic toena... |
OMIM:257980 |
Otospondylomegaepiphyseal Dysplasia |
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Disproportionate short stature, Tibial bowing, Fibular bowing, Cleft palate, Abnormally ossified ... |
ORPHA:1427 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia |
ORPHA:293978 |
Rhizomelic Syndrome, Urbach Type |
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Cleft palate, Triphalangeal thumb, High palate, Abnormality of the elbow, Short stature, Abnormal... |
ORPHA:3098 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Tongue atrophy, Talipes equinovarus |
ORPHA:496689 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ps... |
OMIM:614700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... |
ORPHA:35078 |
Cronkhite-Canada Syndrome |
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Cachexia, Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Tapered finger, Stomach ca... |
ORPHA:2930 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Psoriasiform lesion, Decreased proportion of CD3-positive T cells, Hepatosplenomegal... |
ORPHA:169154 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Petechiae, Recurrent cutaneous abscess for... |
OMIM:619374 |
Pachyonychia Congenita 3 |
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Epidermoid cyst, Chapped lip, Nail dystrophy, Palmoplantar keratoderma, Furrowed tongue, Gingivit... |
OMIM:615726 |
Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Broad palm, Exaggerated median tongue furrow, Tapered finger, Short st... |
OMIM:300431 |
Clark-Baraitser syndrome |
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Thick lower lip vermilion, Broad palm, Exaggerated median tongue furrow, Tapered finger, Maxillar... |
OMIM:300602 |
Hypertrichosis-Acromegaloid Facial Appearance Syndrome |
|
Gingival overgrowth, Furrowed tongue, Generalized hirsutism, Everted lower lip vermilion, Thick v... |
ORPHA:966 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Carious teeth, Hypodontia, Skin fissure, Alopecia, Erythema, Palmoplantar keratoderma, Abnormalit... |
ORPHA:659 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Abnormal de... |
OMIM:601559 |
Ritscher-Schinzel Syndrome 2 |
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Short philtrum, Growth delay, Protruding tongue, Syndactyly, Broad hallux, Short distal phalanx o... |
OMIM:300963 |
Hereditary Acrokeratotic Poikiloderma |
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Short stature, Dystrophic toenail, Finger syndactyly, Camptodactyly of finger, Palmoplantar hyper... |
ORPHA:2907 |
Hartnup Disorder |
|
Glossitis, Short stature |
OMIM:234500 |
Seckel Syndrome 2 |
|
Growth delay, Microdontia, Small for gestational age, Short stature, Microglossia, Few cafe-au-la... |
OMIM:606744 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cleft palate, Talipes equinovarus, Hamartoma of tongue, Short stature, Femoral bowi... |
OMIM:613091 |
Cohen Syndrome |
|
Short stature, Cubitus valgus, Aplasia/Hypoplasia of the tongue, Finger syndactyly, Tooth agenesi... |
ORPHA:193 |
Cousin Syndrome |
|
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... |
OMIM:260660 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Abnormal metacarpal morphology, Glossoptosis, Long philtrum |
ORPHA:166100 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Postaxial foot polydactyly, Postaxial hand poly... |
OMIM:174300 |
Catel-Manzke Syndrome |
|
Cleft palate, High palate, Intrauterine growth retardation, Talipes equinovarus, Cleft upper lip,... |
OMIM:616145 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Cleft palate, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Glossoptosis, Femoral bowin... |
ORPHA:440354 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Small epiphyses, Abnormally ossified vertebrae, Aplasia/hypoplasia involving bones... |
ORPHA:93346 |
Marshall-Smith Syndrome |
|
Failure to thrive, Bowing of the long bones, Craniosynostosis, Gingival overgrowth, Thin skin, Re... |
ORPHA:561 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the ulna, Cleft palate, High palate, Microdontia, Short stature... |
ORPHA:1307 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Broad hallux, Postaxial polydactyly |
OMIM:617127 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Diastema, Hirsutism, Wide mouth, Short stature, Failure to thrive, Long eyelashes, Proximal place... |
OMIM:212066 |
Mcdonough Syndrome |
|
Short philtrum, Short stature, Synophrys, Furrowed tongue, Radial deviation of finger, Dental mal... |
OMIM:248950 |
Mulibrey Nanism |
|
Hypodontia, Intrauterine growth retardation, Growth delay, Short stature, Thickened cortex of lon... |
OMIM:253250 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... |
ORPHA:2442 |
Orofaciodigital Syndrome Type 1 |
|
Odontogenic neoplasm, Cleft palate, Hamartoma of tongue, Brittle hair, Accessory oral frenulum, A... |
ORPHA:2750 |
Auriculocondylar Syndrome 2 |
|
Mandibular condyle aplasia, Cleft palate, Glossoptosis, Short mandibular rami, Narrow mouth, Dent... |
OMIM:614669 |
Tarp Syndrome |
|
Cleft palate, High palate, Intrauterine growth retardation, Talipes equinovarus, Postaxial polyda... |
OMIM:311900 |
Arthrogryposis, Distal, Type 5D |
|
Highly arched eyebrow, Cleft palate, Adducted thumb, Talipes equinovarus, Short stature, Furrowed... |
OMIM:615065 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Absent lower eyelashes, Yellow nails, Nail dystrophy, Sparse lateral e... |
ORPHA:140936 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Failure to thrive, Cleft palate, Hyperextensibility of the finger joints, Glossoptosis |
OMIM:618356 |
Moebius Syndrome |
|
Abnormality of the ulna, Cleft palate, High palate, Microdontia, Talipes equinovarus, Aplasia/Hyp... |
ORPHA:570 |
Orofaciodigital Syndrome Type 2 |
|
Cleft palate, Hamartoma of tongue, Short stature, Unilateral alveolar cleft of maxilla, Finger sy... |
ORPHA:2751 |
Acromegaloid Facial Appearance Syndrome |
|
Thick lower lip vermilion, Highly arched eyebrow, Abnormal lip morphology, Tapered finger, Macrog... |
ORPHA:965 |
9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Craniosynostosis, Downturned corners of mouth, Hip dysplasia, Postnatal growth retar... |
ORPHA:531151 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Mandibuloacral Dysplasia |
|
Short clavicles, High palate, Alopecia, Osteolytic defects of the distal phalanges of the hand, T... |
ORPHA:2457 |
Spondyloepiphyseal Dysplasia Congenita |
|
Upper limb undergrowth, Small epiphyses, Cleft palate, Growth delay, Short long bone, Abnormally ... |
ORPHA:94068 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly |
OMIM:616084 |
Chikungunya |
|
Macule, Gingival bleeding, Petechiae, Erythema, Periostitis, Osteolysis, Skin vesicle |
ORPHA:324625 |
Hemifacial Atrophy, Progressive |
|
Poliosis, Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion, ... |
OMIM:141300 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Thick anterior alveolar ridges, Talipes equinovarus, Absent proximal finger flexion... |
ORPHA:2839 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, Cafe-au-lait... |
OMIM:251260 |
Holzgreve Syndrome |
|
Abnormality of the ulna, Cleft palate, Intrauterine growth retardation, Aplasia/Hypoplasia of the... |
ORPHA:2167 |
Carey-Fineman-Ziter Syndrome |
|
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Tapered finger, Growth delay, Failure t... |
OMIM:254940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Smooth philtrum, High palate, Diastema, Talipes equinovarus, Short stature, Failure to thrive, La... |
OMIM:300534 |
Psoriasis 14, Pustular |
|
Geographic tongue, Nail dystrophy, Erythema, Furrowed tongue, Parakeratosis |
OMIM:614204 |
Down Syndrome |
|
Thick lower lip vermilion, Aganglionic megacolon, Microdontia, Macroglossia, Obesity, Sandal gap,... |
ORPHA:870 |
Orofaciodigital Syndrome I |
|
Carious teeth, Cleft palate, Short stature, Syndactyly, Milia, Sparse hair, Agenesis of permanent... |
OMIM:311200 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Carious teeth, Short stature, Cheilitis, Chapped lip, Nail dystrophy, Palmoplantar keratoderma, A... |
ORPHA:158668 |
Burning Mouth Syndrome |
|
Strawberry tongue, Parageusia, Tongue pain, Xerostomia, Abnormality of the gingiva, Burning mouth... |
ORPHA:353253 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Nail dystrophy, Alopecia, Malabsorption, Clubbing, Glossitis, Clubbing of f... |
OMIM:175500 |
Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Camptodactyly of finger, Toe syndactyly, Hypodontia, Ope... |
ORPHA:1507 |
Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Hyperkerato... |
ORPHA:1839 |
Transient Bullous Dermolysis Of The Newborn |
|
Atrophic scars, Milia |
OMIM:131705 |
Orofaciodigital Syndrome Type 6 |
|
Highly arched eyebrow, Cleft palate, High palate, Growth delay, Hamartoma of tongue, Short statur... |
ORPHA:2754 |
Otopalatodigital Syndrome Type 2 |
|
Cleft palate, Pierre-Robin sequence, Oligodontia, Increased bone mineral density, Camptodactyly o... |
ORPHA:90652 |
Trisomy 8Q |
|
Bone cyst, Cleft palate, High palate, Bifid tongue, Non-midline cleft lip, Everted lower lip verm... |
ORPHA:1752 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... |
OMIM:600802 |
Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Cleft palate, Preauricular skin tag, Impaired mastication, Glossoptos... |
OMIM:602483 |
Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
Carey-Fineman-Ziter Syndrome |
|
Cleft palate, High palate, Pierre-Robin sequence, Talipes equinovarus, Long philtrum, Ulnar devia... |
ORPHA:1358 |
Orofaciodigital Syndrome Iii |
|
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Short sternum, Bifid tongue, Posta... |
OMIM:258850 |
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Atrophic scars, Skin erosion, Erosion... |
ORPHA:231568 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Chronic Graft Versus Host Disease |
|
Xerostomia, Nail dystrophy, Intermittent generalized erythematous papular rash, Alopecia, Erythem... |
ORPHA:99921 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Long palm, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue... |
ORPHA:2759 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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B lymphocytopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper... |
ORPHA:221139 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Tongue atrophy, Shoulder girdle muscle weakness |
OMIM:158900 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Bilateral cleft lip and palate, Sparse eyelashes, Alopecia of scalp, Adducted thumb, High palate,... |
OMIM:618874 |
Acrodermatitis Enteropathica |
|
Short stature, Cheilitis, Failure to thrive, Weight loss, Alopecia, Erythema, Furrowed tongue, Ab... |
ORPHA:37 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cutis laxa, Diaphyseal thickening, Proximal symphalangism of hands, Short stature, Humeroradial s... |
OMIM:151050 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Cleft palate, Intrauterine growth retardation, Thin eyebrow, Pierre-... |
ORPHA:364577 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Duplication of the distal phalanx of hand, Broad toe, Absent uvula, Thin upper lip... |
OMIM:268310 |
Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
|
Atrophic scars, Milia |
OMIM:131750 |
Developmental And Epileptic Encephalopathy 80 |
|
Smooth philtrum, Triphalangeal thumb, High palate, Talipes equinovarus, Tapered finger, Long phil... |
OMIM:618580 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Microglossia, Hip dislocation, Postaxial hand polydactyly, Micromelia, Median cleft... |
OMIM:241800 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Macroglossia, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Glossit... |
ORPHA:2221 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft palate, Smooth philtrum, Thin eyebrow, Pierre-Robin sequence, Oligodontia, Long upper lip, ... |
OMIM:608670 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cleft palate, Intrauterine growth retardation, Macroglossia, Failure to thrive, Bifid uvula, Obes... |
OMIM:612938 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Metatarsus adductus, High, narrow palate, Cleft palate, Talipes equinovarus, Arachnodactyly, Glos... |
ORPHA:436003 |
Raine Syndrome |
|
Highly arched eyebrow, Cleft palate, High palate, Microdontia, Wide mouth, Short stature, Bowing ... |
OMIM:259775 |
Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Hypodontia, Cleft palate, High palate, Adactyly, Aplasia/Hypoplasi... |
ORPHA:989 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Talipes equinovarus, Long philtrum, Macroglossia, Short stature, Protruding tongue, ... |
OMIM:141750 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Growth delay, Failure to thrive, Nail dystrophy, Alopecia, Atrophic scars, Erythema, Aplasia cuti... |
ORPHA:79396 |
Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Sparse eyelashes, Cleft palate, Preauricular skin tag, Alopecia, Glossoptosis, ... |
OMIM:616367 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft palate, Dental malocclusion, Short stature, Long philtrum, Anteriorly placed anus, Agenesis... |
OMIM:616894 |
Down Syndrome |
|
Broad palm, Aganglionic megacolon, Duodenal stenosis, Hypoplastic iliac wing, Macroglossia, Short... |
OMIM:190685 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, 2-3 toe syndactyly, Single transverse palmar crease, Nevus flammeus of the f... |
ORPHA:464738 |
Gracile Bone Dysplasia |
|
Short stature, Failure to thrive, Decreased skull ossification, Ankyloglossia, Slender long bone,... |
OMIM:602361 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence, Aplasia/Hypoplasia... |
OMIM:192445 |
Cowden Syndrome |
|
Hypopigmented skin patches, Colorectal polyposis, Bone cyst, High palate, Macule, Short stature, ... |
ORPHA:201 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short stature, Duplication of the distal phalanx of hand, Broad toe, Delayed eruption of teeth, T... |
OMIM:180700 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Intrauterine growth retardation, Short philtrum, Hypoplastic scapulae, Aplasia/Hypop... |
ORPHA:958 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Severe B lymphocytopenia |
ORPHA:83617 |
Autosomal Dominant Robinow Syndrome |
|
Oligodontia, Short stature, Curly eyelashes, Finger syndactyly, Naevus flammeus of the eyelid, Ca... |
ORPHA:3107 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Sparse eyelashes, Alopecia, Small hand, Supernumerary tooth, Glossoptosis, A... |
ORPHA:2108 |
Pontocerebellar Hypoplasia, Type 1B |
|
Growth delay, Hip dislocation, Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... |
ORPHA:101096 |
Yunis-Varon Syndrome |
|
Pyloric stenosis, Redundant neck skin, Sparse eyelashes, Short middle phalanx of finger, Short st... |
ORPHA:3472 |
Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Cleft palate, Dental crowding, Periauricular skin pits, Hamartoma of ... |
ORPHA:137888 |
Kleefstra Syndrome 1 |
|
Talipes equinovarus, U-Shaped upper lip vermilion, Macroglossia, Synophrys, Obesity, Everted lowe... |
OMIM:610253 |
Tarp Syndrome |
|
Cleft palate, Alveolar ridge overgrowth, Pierre-Robin sequence, Talipes equinovarus, Rocker botto... |
ORPHA:2886 |
Rabson-Mendenhall Syndrome |
|
High palate, Hypertrichosis, Hirsutism, Low anterior hairline, Lichenoid skin lesion, Polydactyly... |
ORPHA:769 |
X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Short stature, Failure to thrive, Weight loss, Alopecia, Malabsorptio... |
ORPHA:47 |
Alg12-Cdg |
|
Thrombocytopenia, B lymphocytopenia, Redundant skin |
ORPHA:79324 |
Kinsship Syndrome |
|
Smooth philtrum, Short stature, Thin upper lip vermilion, Fibular hypoplasia, Gingival overgrowth... |
OMIM:619297 |
Marshall-Smith Syndrome |
|
Irregular dentition, Eclabion, Short philtrum, Large sternal ossification centers, Failure to thr... |
OMIM:602535 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Ring Chromosome 22 Syndrome |
|
2-3 toe syndactyly, Growth delay, Large hands, Thick eyebrow, Thick vermilion border, Protruding ... |
ORPHA:1446 |
Stüve-Wiedemann Syndrome |
|
Intrauterine growth retardation, Talipes equinovarus, Short stature, Metaphyseal widening, Bowing... |
ORPHA:3206 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Plummer-Vinson Syndrome |
|
Cheilitis, Esophageal web, Narrow mouth, Glossitis, Tongue atrophy, Intra-oral hyperpigmentation,... |
ORPHA:54028 |
Short-Rib Thoracic Dysplasia 12 |
|
Broad palm, Hypoplastic nipples, Intrauterine growth retardation, Hypoplastic scapulae, Bowing of... |
OMIM:269860 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Metatarsus adductus, High, narrow palate, Redundant neck skin, High palate, Ulnar deviation of th... |
OMIM:214100 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Thick lower lip vermilion, Growth delay, Talipes equinovarus, Tapered finger, Macroglossia, U-Sha... |
OMIM:301040 |
Frontorhiny |
|
Cleft palate, Preauricular skin tag, Bifid tongue, Dermoid cyst, Camptodactyly of finger, Finger ... |
ORPHA:391474 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... |
ORPHA:391487 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft palate, Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Anal atresia, Cleft lip, B... |
OMIM:616300 |
Blomstrand Lethal Chondrodysplasia |
|
Neonatal short-limb short stature, Long philtrum, Abnormality of epiphysis morphology, Bowing of ... |
ORPHA:50945 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bilateral cleft lip and palate, Intestinal malrotation, Bifid tongue, Broad thumb, Clinodactyly o... |
ORPHA:2001 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Smooth philtrum, Protruding tongue, Open mouth |
OMIM:618732 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Carious teeth, Growth delay, Mitten deformity, Nevus, Failure to thrive, Aplasia cutis congenita,... |
ORPHA:89842 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells |
OMIM:307200 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Smooth philtrum, Hypertrichosis, Adducted thumb, Low anterior hairline, Short stature, Intrauteri... |
OMIM:608779 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim... |
ORPHA:572 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Bifid uvula, Short sternum, Postaxial foot polydactyly,... |
ORPHA:2752 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Cleft palate, Intrauterine growth retardation, 4-5 toe syndactyly, Rocker bottom foot, Tapered fi... |
ORPHA:488642 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Cleft palate, Smooth philtrum, Short stature, Camptodactyly of finger, Thin upp... |
ORPHA:261330 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Nail dystrophy, Atrophic scars, Aplasia cutis congenita, Skin erosion, Milia, Oral... |
ORPHA:79411 |
Distal Monosomy 15Q |
|
Aplasia cutis congenita over the scalp vertex, Cleft palate, Talipes equinovarus, Short stature, ... |
ORPHA:1596 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Cowden Syndrome 5 |
|
High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Palmoplantar hyperkeratosis, Ham... |
OMIM:615108 |
Deafness-Craniofacial Syndrome |
|
Abnormal palate morphology, Short lingual frenulum, Short philtrum, Temporal hypotrichosis, Bifid... |
ORPHA:3241 |
Robinow Syndrome |
|
Short stature, Syndactyly, Broad alveolar ridges, Triangular mouth, Hypodontia, Long philtrum, Ra... |
ORPHA:97360 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Dystrophic fingernails, Erythematous plaque, Dystrophic toenail, Abnormality of the elbow, Erythe... |
ORPHA:158673 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cleft palate, Talipes equinovarus, Tooth agenesis, Supernumerary nipple, Open bite, Postaxial pol... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cleft palate, Talipes equinovarus, Tooth agenesis, Supernumerary nipple, Open bite, Postaxial pol... |
ORPHA:352665 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, 2-3 toe syndactyly, Dental crowding, Exaggerated median tongue furrow |
ORPHA:313892 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin, Wide mouth, Low anterior hairline, Gingival overgrowth, Horizontal eyebrow, Thick eyebr... |
OMIM:618797 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Nail dystrophy, Hyperkeratosis |
OMIM:131850 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Nail dystrophy, Furrowed tongue, Oral leukoplakia, Hyperkeratosis, ... |
OMIM:148210 |
Pallister-Hall Syndrome |
|
Cleft palate, Short stature, Neonatal death, Microglossia, Distal shortening of limbs, Syndactyly... |
OMIM:146510 |
Hypoglossia-Hypodactylia |
|
Aglossia, Adactyly, Microglossia, Split hand, Narrow mouth |
OMIM:103300 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, High palate, Intrauterine growth retardation, Talipes equin... |
ORPHA:250989 |
Cowden Syndrome 6 |
|
High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Palmoplantar hyperkeratosis, Ham... |
OMIM:615109 |
Fontaine Progeroid Syndrome |
|
Smooth philtrum, Hypoplastic nipples, Oligodontia, Short stature, Neonatal death, Dermal transluc... |
OMIM:612289 |
Hartnup Disease |
|
Hypopigmented skin patches, Short stature, Malabsorption, Gingivitis, Glossitis |
ORPHA:2116 |
Chand Syndrome |
|
Cleft palate, Short fifth metatarsal, Bifid tongue, Curly hair, Abnormal oral frenulum morphology... |
ORPHA:1401 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, High palate, Preauricular pit, Oligodontia, Intrauterine growth retardation, Macrog... |
ORPHA:453499 |
Cowden Syndrome 1 |
|
High palate, Furrowed tongue, Colonic diverticula, Acrokeratosis, Narrow mouth, Palmoplantar hype... |
OMIM:158350 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Splenomegaly, Reduced natural k... |
OMIM:619381 |
Ramos-Arroyo Syndrome |
|
Shoulder dimple, Carious teeth, Aganglionic megacolon, Long philtrum, Xerostomia, Severe short st... |
ORPHA:1051 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Growth delay, Mitten deformity, Nail dystrophy, Atrophic scars, Palmoplantar blist... |
ORPHA:79409 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Petechiae, Gingival overgrowth, Generalized hypertrichosis, Protruding tongue |
ORPHA:93400 |
Distal Monosomy 12Q |
|
Pyloric stenosis, 2-3 toe syndactyly, Short middle phalanx of finger, Smooth philtrum, Duodenal a... |
ORPHA:96149 |
Cerebrocostomandibular Syndrome |
|
High palate, Long philtrum, Cleft soft palate, Congenital hip dislocation, Glossoptosis, Calcanea... |
OMIM:117650 |
Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Short stature, Aplasia/Hypoplasia of the radi... |
ORPHA:818 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Treacher-Collins Syndrome |
|
Cleft palate, Abnormal hair morphology, High palate, Low anterior hairline, Open bite, Preauricul... |
ORPHA:861 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal thumb morphology, Smooth philtrum, Protruding tongue, Everted lower lip vermilion |
ORPHA:324410 |
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation |
|
Macroglossia, Protruding tongue |
OMIM:227250 |
Angelman Syndrome Due To A Point Mutation |
|
Widely spaced teeth, Wide mouth, Drooling, Obesity, Hypopigmentation of hair, Protruding tongue |
ORPHA:411511 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Angelman Syndrome |
|
Widely spaced teeth, Wide mouth, Macroglossia, Drooling, Obesity, Protruding tongue, Fair hair |
OMIM:105830 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... |
ORPHA:79124 |
Hypoglossia With Situs Inversus |
|
Hypodontia, High palate, Microglossia, Narrow mouth |
OMIM:612776 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Glossoptosis |
ORPHA:2031 |
Epidermolysis Bullosa Pruriginosa |
|
Milia |
OMIM:604129 |
Stickler Syndrome |
|
Cachexia, Cleft palate, Open bite, Long philtrum, Abnormality of epiphysis morphology, Macrogloss... |
ORPHA:828 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Tongue atrophy, Talipes equinovarus, Elbow flexion contracture |
OMIM:617114 |
Hereditary Folate Malabsorption |
|
Cheilitis, Pallor, Glossitis, Failure to thrive |
ORPHA:90045 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Long philtrum, Prominent eyelashes, Failure to thrive, Gingival overgrowth, Protru... |
OMIM:619179 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cleft palate, Hamartoma of tongue, Polysyndactyly of hallux, Microglossia, Postaxial polysyndacty... |
OMIM:263520 |
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Talipes equinovarus, Short stature, Slender finger, Thin upper lip vermilion, Short upper lip, Hi... |
OMIM:309580 |
Agnathia-Otocephaly Complex |
|
Narrow mouth, Cleft palate, Microglossia, Aglossia |
OMIM:202650 |
Degcags Syndrome |
|
Pyloric stenosis, Smooth philtrum, Talipes equinovarus, Syndactyly, Low posterior hairline, Pallo... |
OMIM:619488 |
Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic toenail, Delayed eruption of teeth, Reduced bone mineral density, Hypodontia, High pal... |
ORPHA:740 |
Agel Amyloidosis |
|
Cutis laxa, Xerostomia, Nail dystrophy, Tongue atrophy, Dry skin, Sparse hair, Diffuse skin atrophy |
ORPHA:85448 |
Ataxia-Telangiectasia |
|
Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... |
OMIM:208900 |
9q subtelomeric deletion syndrome |
|
Protruding tongue, Synophrys |
DECIPHER:52 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Growth delay, Macroglossia, Failure to thrive, Downturned corners of mouth... |
ORPHA:96147 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Areflexia of upper limbs, Hand muscle weakness, Penetrating foot ulcers, Proximal muscle weakness... |
ORPHA:99956 |
Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Short stature, Epiphyseal stippling, Microglo... |
OMIM:270400 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad eyebrow, Smooth philtrum, High palate, Duodenal atresia, Short stature, Intrauterine growth... |
OMIM:616975 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Hypopigmented skin patches on arms, Autoimmune thrombocytopenia, Purpura, Lymphopeni... |
OMIM:607944 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Widely spaced teeth, Wide mouth, Drooling, Obesity, Hypopigmentation of hair, Protruding tongue |
ORPHA:98794 |
Orofaciodigital Syndrome Type 4 |
|
Genu varum, Cleft palate, Finger syndactyly, Camptodactyly of finger, Perineal fistula, Intrauter... |
ORPHA:2753 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss, Angular cheilitis, Glossitis, Pallor |
ORPHA:35858 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Widely spaced teeth, Hypopigmentation of hair, Protruding tongue, Wide mouth |
ORPHA:98795 |
Charcot-Marie-Tooth Disease Type 1F |
|
Flexion contracture of finger, Hand muscle weakness, Distal upper limb amyotrophy, Proximal muscl... |
ORPHA:101085 |
Charcot-Marie-Tooth Disease Type 4C |
|
Hammertoe, Failure to thrive, Drooling, Hip dysplasia, Tongue atrophy, Tongue fasciculations, Dif... |
ORPHA:99949 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Carious teeth, Growth delay, Mitten deformity, Nail dystrophy, Atrophic scars, Aplasia cutis cong... |
ORPHA:79408 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Aplasia of the sweat glands, Lower limb undergrowth, Thin skin, Protrudin... |
OMIM:613630 |
Meckel Syndrome, Type 1 |
|
Cleft palate, Intrauterine growth retardation, Wide mouth, Cleft upper lip, Bowing of the long bo... |
OMIM:249000 |
Tetraamelia Syndrome 2 |
|
Ankyloglossia, Bilateral cleft lip, Glossoptosis |
OMIM:618021 |
Joubert Syndrome 1 |
|
Highly arched eyebrow, Triangular-shaped open mouth, Macroglossia, Protruding tongue, Postaxial f... |
OMIM:213300 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
High palate, Stomatitis, Failure to thrive, Glossitis, Thin upper lip vermilion |
OMIM:277380 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short nail, Short greater sciatic notch, Cleft palate, Talipes equinovarus, Broad toe, 2-3 finger... |
OMIM:312870 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Intrauterine growth retardation, Growth delay, Stomatitis, Failure to thrive, Gloss... |
ORPHA:79284 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Hand muscle atrophy, Tongue fasciculations |
OMIM:211530 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia, Coronal craniosynostosis |
OMIM:241310 |
Autosomal Dominant Cerebellar Ataxia |
|
Erythema, Tongue fasciculations, Tongue atrophy, Hyperkeratosis |
ORPHA:99 |
Icf Syndrome |
|
Macroglossia, Protruding tongue, Malabsorption, Short stature |
ORPHA:2268 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, High palate, Short stature, Long philtrum, Macroglossia, Long eyelashes, F... |
ORPHA:444077 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Cleft palate, Bifid uvula |
OMIM:303400 |
Giant Cell Arteritis |
|
Impaired mastication, Weight loss, Alopecia, Glossitis, Skin ulcer |
ORPHA:397 |
Hypomandibular Faciocranial Dysostosis |
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Cleft palate, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Bifid uvula, Narrow mouth |
ORPHA:1790 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia, Hyperpigmented nevi |
ORPHA:2959 |
Cerebrocostomandibular Syndrome |
|
Cleft palate, Intrauterine growth retardation, Short stature, Glossoptosis, Short hard palate, Cl... |
ORPHA:1393 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
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Congenital localized absence of skin |
OMIM:132000 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Hand clenching, Protruding tongue, Drooling |
OMIM:619580 |
Melkersson-Rosenthal Syndrome |
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Macroglossia, Furrowed tongue, Cheilitis |
ORPHA:2483 |
Spinocerebellar Ataxia 36 |
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Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Juvenile Sialidosis Type 2 |
|
Generalized hypertrichosis, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
Angelman Syndrome |
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Widely spaced teeth, Wide mouth, Drooling, Obesity, Delayed menarche, Protruding tongue, Fair hair |
ORPHA:72 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Orofaciodigital Syndrome Type 14 |
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Cleft palate, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Duplication of p... |
ORPHA:434179 |
Okamoto Syndrome |
|
Redundant neck skin, Hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Poly... |
ORPHA:2729 |
Neuroocular Syndrome |
|
Short stature, Brittle hair, Short uvula, Prominent fingertip pads, Tibial torsion, Highly arched... |
OMIM:619539 |
Pitt-Hopkins-Like Syndrome 2 |
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Protruding tongue, Wide mouth, Drooling |
OMIM:614325 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Sacral dimple, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased ... |
ORPHA:508533 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Abnormal pelvis bone ossification, Absent or minimally ossified vertebral bodies, Ectopic anus, L... |
ORPHA:93271 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal upper limb amyotrophy, Hand muscle weakness, Upper limb amyotrophy, Congenital finger fl... |
ORPHA:466768 |
Thymic Aplasia |
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Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, T lymphocytopenia, Aplas... |
ORPHA:83471 |
Opitz Gbbb Syndrome |
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Hypodontia, Cleft palate, Preauricular pit, High palate, Ectopic anus, Long philtrum, Short statu... |
ORPHA:2745 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Aplasia/Hypoplasia of the eyebrow, Microglossia, Narrow mouth |
ORPHA:990 |
Pallister-Hall Syndrome |
|
Polydactyly affecting the 4th finger, Cleft palate, Short stature, Broad toe, Accessory oral fren... |
ORPHA:672 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Smooth philtrum, Talipes equinovarus, Short uvula, Thin upper lip vermilion, Decreased body weigh... |
OMIM:619475 |
Orofaciodigital Syndrome Xiv |
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Cleft palate, Hamartoma of tongue, Postaxial polydactyly, Supernumerary tooth, Aplasia of the epi... |
OMIM:615948 |
Viss Syndrome |
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Hirsutism, Talipes equinovarus, Short stature, Submucous cleft soft palate, High palate, Rocker b... |
OMIM:619472 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Macroglossia, Impaired mastication, Open mouth, Decreased body weight, Protruding tongue |
ORPHA:258 |
Meckel Syndrome |
|
Cleft palate, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Postax... |
ORPHA:564 |
Ankyloglossia With Or Without Tooth Anomalies |
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Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Microphthalmia, Syndromic 6 |
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Toe syndactyly, Short middle phalanx of finger, Single transverse palmar crease, Polydactyly, Cle... |
OMIM:607932 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Growth delay, Mitten deformity, Nail dystrophy, Alopecia, Atrophic scars, Spontaneous esophageal ... |
OMIM:226600 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
Fraser Syndrome |
|
Toe syndactyly, High palate, Ectopic anus, Wide pubic symphysis, Cleft upper lip, Abnormal hair p... |
ORPHA:2052 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Smooth philtrum, Intrauterine growth retardation, Growth delay, Stomatitis, Failure to thrive, Gl... |
ORPHA:79282 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Ganglioneuromatosis, Abnormal tongue morphology, Thick vermilion border, P... |
ORPHA:653 |
Glucagonoma |
|
Stomatitis, Necrolytic migratory erythema, Weight loss, Intestinal obstruction, Steatorrhea, Glos... |
ORPHA:97280 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Localized Dystrophic Epidermolysis Bullosa, Nails Only |
|
Nail dystrophy, Dystrophic fingernails, Dystrophic toenail |
ORPHA:158676 |
Microsporidiosis |
|
Glossitis, Cachexia, Weight loss, Skin nodule |
ORPHA:2552 |
Carney Complex |
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Hirsutism, Neoplasm of the stomach, Neoplasm of the rectum, Esophageal neoplasm, Tongue nodules, ... |
ORPHA:1359 |
Plague |
|
Inflammation of the large intestine, Abnormality of the elbow, Chapped lip, Glossitis, Enterocoli... |
ORPHA:707 |
Kawasaki Disease |
|
Abnormality of nail color, Palmoplantar erythema, Glossitis, Cheilitis |
ORPHA:2331 |
Bilateral Perisylvian Polymicrogyria |
|
Intrauterine growth retardation, Protruding tongue, Drooling |
ORPHA:98889 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Osteoporosis, Ankyloglossia, Supernumerary tooth |
OMIM:619525 |
Nail Disorder, Nonsyndromic Congenital, 8 |
|
Dystrophic toenail |
OMIM:607523 |
Choreoacanthocytosis |
|
Weight loss, Protruding tongue |
ORPHA:2388 |