| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic... |
ORPHA:2722 |
| Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm... |
OMIM:604625 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Dermoodontodysplasia |
|
Mandibular prognathia, Sparse scalp hair, Melanocytic nevus, Tooth agenesis, Thin skin, Fingernai... |
ORPHA:1660 |
| Incontinentia Pigmenti |
|
Ridged nail, Conical tooth, Abnormality of skin pigmentation, Oligodontia, Coarse hair, Sparse ha... |
OMIM:308300 |
| Dermoodontodysplasia |
|
Nail dysplasia, Hypodontia, Thin skin, Trichodysplasia |
OMIM:125640 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary teeth, Abno... |
ORPHA:1810 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ... |
ORPHA:238468 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Wide nasal bridge, Wide mouth, Sparse ... |
ORPHA:1231 |
| Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Alopecia, Increased groin pigmentation with raindrop d... |
OMIM:188150 |
| Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails |
OMIM:190320 |
| Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate |
OMIM:600331 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont... |
ORPHA:1264 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Micrognathia, Wide nasal bridge, Skin dimple, Thin vermilion border, Short philtrum,... |
ORPHA:261304 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Melanoc... |
ORPHA:1008 |
| Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Hypermelanotic macule, Abnormal nipple morphology, Carious teeth, Abnorma... |
ORPHA:69125 |
| Candidiasis, Familial, 1 |
|
Alopecia, Premature loss of teeth |
OMIM:114580 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... |
ORPHA:2228 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Micrognathia, Skin ulcer, Fine hair, Thin skin, Irre... |
ORPHA:2500 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... |
ORPHA:2222 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai... |
ORPHA:2325 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... |
ORPHA:2026 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Microdontia, Sparse hair, Bifid uvula, Cleft upper lip,... |
OMIM:129400 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Oral mucosal blis... |
ORPHA:79397 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Premature loss of primary teeth, Widely spaced ... |
OMIM:617364 |
| Filippi Syndrome |
|
Cryptorchidism, Optic atrophy, Hypertrichosis, Wide nasal bridge, Thin vermilion border, Short ph... |
OMIM:272440 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Flexion co... |
ORPHA:90153 |
| Flynn-Aird Syndrome |
|
Alopecia, Carious teeth, Alopecia of scalp, Dermal atrophy, Rod-cone dystrophy |
OMIM:136300 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Abnormality of the dentition, Hypoplastic toenails, Absent thumbnail, Oligodontia, Absent toenail... |
ORPHA:79499 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t... |
ORPHA:248 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... |
ORPHA:364577 |
| Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerar... |
ORPHA:1787 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:978 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta |
ORPHA:79129 |
| W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... |
ORPHA:2804 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic sca... |
ORPHA:79402 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Dental crowding, Lipoatrophy, Increased s... |
ORPHA:2457 |
| Adult Syndrome |
|
Premature loss of permanent teeth, Sparse scalp hair, Absent nipple, Fair hair, Freckling, Sparse... |
OMIM:103285 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Abnormal dental morphology, Camptodactyly of finger, Hyperpigmentation of the skin, Hyp... |
ORPHA:2251 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,... |
ORPHA:3044 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Abnormal fingernail morpholo... |
ORPHA:742 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Reticulated skin pigmentation, Premature loss of teeth, Hypopigmentation of the skin, Subungual h... |
ORPHA:69087 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Flexion contr... |
ORPHA:75496 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Hypopigmentation of the ... |
OMIM:617294 |
| Limb-Mammary Syndrome |
|
Alopecia, Psoriasiform dermatitis, Absent nipple, Freckling, Cleft hard palate, Cleft lip, Sparse... |
ORPHA:69085 |
| 19Q13.11 Microdeletion Syndrome |
|
Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Fine hair, Wide mouth, Sparse... |
ORPHA:217346 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipo... |
ORPHA:2348 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr... |
ORPHA:3363 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cleft p... |
ORPHA:1812 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon... |
OMIM:305100 |
| Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Thin upper lip vermilion, Breast aplasia, Smooth philtrum |
OMIM:612242 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia, Generalized hypopigmentation,... |
ORPHA:1816 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Multiple cafe-au-lait spots, Tooth ... |
ORPHA:570 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Agenesis of molar, Supernumerary tooth, Cryptorchidism, Microdontia |
OMIM:619718 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, High palat... |
OMIM:211380 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... |
OMIM:613573 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Carious teeth, Melanocytic... |
OMIM:612079 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Sparse axillary hair, Sparse pubic hair, Aplasia/Hypoplasia of the nipples... |
OMIM:181270 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar... |
ORPHA:2751 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Rubinstein-Taybi Syndrome 2 |
|
Thick eyebrow, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Dental malocclusio... |
OMIM:613684 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Alopecia, Flexion contracture |
OMIM:203550 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormality of the dentition, Absent eyelashes, Abno... |
OMIM:607823 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Carious teeth, Yellow nails, Breast carcinoma, Conical incisor, Onycholysi... |
OMIM:614564 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ... |
OMIM:226650 |
| Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
| Bullous Lichen Planus |
|
Breast aplasia, Papule |
ORPHA:33408 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Spotty hyperpigmentation, Low anterior hairline, Spotty hypopigmentation, Downt... |
ORPHA:79133 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Abnormal dental morpholog... |
ORPHA:1897 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Joubert Syndrome 10 |
|
Deep philtrum, Wide nasal bridge, Thick vermilion border, Molar tooth sign on MRI, Rod-cone dystr... |
OMIM:300804 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lowe... |
OMIM:617412 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,... |
OMIM:619787 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Narrow mouth, Patent ductus arteriosus, Cryptorchidism, Cleft palate, Thin vermili... |
OMIM:615502 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Nail dysplasia, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
| Marshall-Smith Syndrome |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Thin skin, Open mouth, Retrognathia, Gener... |
ORPHA:561 |
| Zimmermann-Laband Syndrome |
|
Generalized hyperpigmentation, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft pa... |
ORPHA:3473 |
| Ulnar-Mammary Syndrome |
|
Abnormal fingernail morphology, Camptodactyly of finger, Hypoplastic toenails, Cryptorchidism, Br... |
ORPHA:3138 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Aplasia/... |
ORPHA:2036 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Hyperpigm... |
ORPHA:89838 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Micrognathia, ... |
ORPHA:1899 |
| Glass Syndrome |
|
Inguinal hernia, Dental crowding, Conical tooth, Micrognathia, Long nose, Pierre-Robin sequence, ... |
OMIM:612313 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Preauricular pit, Alopecia, Accessory oral frenulum, Hyperpigmented papule, Flexion contracture, ... |
ORPHA:88630 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Dental malocclusion, H... |
OMIM:612350 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormality of the dentition, Micrognathia, Abnormal hair morphology, Generalized lipod... |
ORPHA:90154 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Subcutaneous nodule, Abnormality of skin pigmentation, Chorioret... |
ORPHA:2092 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Wide nasal bridge, Downturned... |
OMIM:618729 |
| Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:1515 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Decreased response to growth hormone stimulation test, Long eyeb... |
OMIM:275400 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Sparse hair, Smoot... |
OMIM:190351 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
| Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth,... |
OMIM:616367 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Patent ductus arteriosus, Breast aplasia |
ORPHA:276413 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn... |
ORPHA:166108 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... |
ORPHA:3019 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent... |
OMIM:612841 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Abnormality of the dentition, Supernu... |
ORPHA:502 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Notched primary central incisor, High anterior hairline, Sparse scalp hair |
OMIM:620062 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Sparse eye... |
ORPHA:77258 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl... |
ORPHA:280365 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Hirsutism, Hyperconvex thumb nails, Absent lower e... |
OMIM:620370 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal optic chiasm morphology, Sacral dimple, Retinal detachment, Inguinal hernia, Cleft soft ... |
ORPHA:268261 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplas... |
OMIM:226700 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow... |
OMIM:601345 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna... |
ORPHA:257 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... |
ORPHA:3214 |
| Zimmermann-Laband Syndrome 3 |
|
Thick hair, Synophrys, Thick lower lip vermilion, Low anterior hairline, Gingival overgrowth, Pat... |
OMIM:618658 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Wide intermamillary dist... |
ORPHA:3253 |
| Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu... |
ORPHA:2028 |
| Pachyonychia Congenita |
|
Natal tooth, Alopecia, Epidermoid cyst, Angular cheilitis, Paronychia, Onychogryposis of toenails... |
ORPHA:2309 |
| Flynn-Aird Syndrome |
|
Alopecia, Carious teeth, Skin ulcer, Dermal atrophy, Rod-cone dystrophy |
ORPHA:2047 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormal fingernail morphology, Abnormality of the dentition, Conical tooth, Hypoplastic toenails... |
ORPHA:952 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Abnormality of the subungual region, Abnormal... |
ORPHA:79411 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Bloom Syndrome |
|
Cryptorchidism, Spotty hypopigmentation, Agenesis of maxillary lateral incisor, Malar flattening,... |
OMIM:210900 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Dental crowding, Congenital diaphragmatic hernia, Carious teeth, L... |
OMIM:617602 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Neonatal death, Skin e... |
OMIM:609638 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Lipoatrophy, Micrognathia, Hypoplasia o... |
OMIM:601812 |
| 14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Highly arched eyebrow, Micrognathia, Deep philtrum, Patent ductus arteri... |
ORPHA:261120 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Anterior pituitary hypoplasia, Micrognathia, Synoph... |
OMIM:619841 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
| Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Abnormal hair morphology, Absent retinal pigment epithelium, Patent ductus arteriosus, Malar flat... |
OMIM:122430 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Carious teeth, Scarring alopecia of scalp, Sparse eyebrow, Nail dystr... |
OMIM:612843 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Dental crowding, Decreased ... |
OMIM:608612 |
| Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches, Thick lower lip vermilion, Irregula... |
OMIM:300337 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Sparse hair, Microdo... |
OMIM:268400 |
| Monosomy 18P |
|
Wide intermamillary distance, Alopecia, Micrognathia, Carious teeth, Wide nasal bridge, Cleft pal... |
ORPHA:1598 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Nail dystrophy... |
ORPHA:2890 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cryptorchi... |
ORPHA:2554 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Hypodontia, Sparse hair, Aplasia/Hyp... |
ORPHA:50944 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair |
ORPHA:2266 |
| Silver-Russell Syndrome 2 |
|
Downturned corners of mouth, Thin skin, Micrognathia |
OMIM:618905 |
| Gapo Syndrome |
|
Alopecia, Epidermoid cyst, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, R... |
OMIM:230740 |
| Short Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathia, Absence of ... |
OMIM:269880 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Spotty hypopigmentati... |
OMIM:619719 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormality of the dentition, Abnorm... |
OMIM:614929 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Open mouth, Highly arched eyebrow |
OMIM:618763 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Retinal detachment, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Cheilitis, Aplasia/Hypoplasia of the eyebr... |
ORPHA:129 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
| Renpenning Syndrome |
|
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Macrod... |
ORPHA:3242 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Optic disc pallor, Micrognathia, Diastema, Carious teeth, Sparse eyebro... |
OMIM:244450 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Bifid uvula, Long phil... |
OMIM:617506 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Inguinal he... |
OMIM:614607 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermilion, F... |
OMIM:619797 |
| Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Decreased response to growth hormone stimulat... |
ORPHA:157954 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters |
OMIM:132000 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythematous plaque, Thin skin, Dermal atrophy, Dystr... |
ORPHA:158673 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Protruding tongue, Synophrys, Widow's peak, Everted lower lip vermilion, H... |
OMIM:617804 |
| Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Thick eyebrow, Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wi... |
OMIM:614608 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp, Synophrys, Optic atrophy, Cleft palat... |
OMIM:605282 |
| Nicolaides-Baraitser Syndrome |
|
Wide intermamillary distance, Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pat... |
ORPHA:3051 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Cryptorchidism, Ocular albinism, Thin skin, Narrow mou... |
ORPHA:2719 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,... |
OMIM:234100 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Hypoplasia of the ma... |
ORPHA:920 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt... |
ORPHA:1807 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Thin skin, Narrow m... |
OMIM:201170 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal hair morphology, Supernumerary tooth, Patent ductus arteriosus, Thin vermilion border, T... |
ORPHA:86818 |
| Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na... |
ORPHA:1811 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cryptorchidism, Thin skin, Narrow mouth, Sparse hair, Umbilical hernia |
OMIM:219150 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal fingerna... |
ORPHA:3220 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Micrognathia, Low anterior hairline, Optic atrophy, Lateral ventricle dilatation, Small... |
OMIM:614219 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Narrow mouth, Patent ductus arteriosus... |
ORPHA:2962 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Sparse eyelashes, Abnormal dental enam... |
ORPHA:2909 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb... |
ORPHA:884 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Synophrys, Wide nasal bridge, Downturned corners of mou... |
OMIM:618067 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Premature... |
OMIM:616353 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology, Irregular hyperpigmen... |
ORPHA:1214 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, Thick lower l... |
OMIM:618342 |
| Estrogen Resistance |
|
Breast aplasia, Polycystic ovaries |
OMIM:615363 |
| Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Hypoplastic thumbnail, Low anterior hairline, High palate, Gingival o... |
ORPHA:420561 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Cleft palate, Abnormal toenail morphology, Abnormality of the nail, Papule |
ORPHA:494 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Sparse eyelashes, Micrognathia, Hypoplasia of the max... |
OMIM:257850 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De... |
ORPHA:525 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Micrognathia, Abnormality of the dentition, High, narrow... |
ORPHA:2108 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Focal dermal aplasia/hypoplasia, Cryptorchidism, Cleft palate, Agenesis of corpus callosum |
OMIM:164180 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite... |
ORPHA:2907 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Micrognathia, Flexion contracture, Cleft palate, Malar flattening |
OMIM:215100 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Wide... |
ORPHA:2107 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Sacral dimple, Camptodactyly of finger, Highly arched eyebrow, Open bite, ... |
ORPHA:1327 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Wide intermamillary distance, Highly arched eyebrow, Congenital diaphragmatic ... |
OMIM:300887 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
| Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Sparse hair, Agenesis of corpus callosum, Microretrognat... |
OMIM:311200 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Skin tags, Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Wide nasal bridge, Widely... |
ORPHA:90024 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Hypoplasia of the pons, Cryptorchidism, Dental malocclusion, Fine hair, Macrodont... |
OMIM:616202 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... |
OMIM:129900 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Abnormality of p... |
OMIM:257980 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Increased circulating gonadotropin level, Cryptorchidism, Hypoplasia o... |
ORPHA:755 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Hypoplasia of ... |
OMIM:106260 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... |
ORPHA:1193 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Meier-Gorlin Syndrome 7 |
|
Cryptorchidism, Cleft palate, Breast aplasia, High palate, Thin eyebrow, Narrow mouth |
OMIM:617063 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Carious teeth, Absent eyelashes, Cleft palate, Multiple cafe-au-lait sp... |
ORPHA:2316 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Decreas... |
OMIM:216550 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Irreg... |
ORPHA:317 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Preauricular pit, Cleft palate |
OMIM:600252 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Genera... |
ORPHA:79083 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Wide intermamillary distance, Micrognathia, Carious teeth, Cryptorchid... |
OMIM:214150 |
| Short Syndrome |
|
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the d... |
ORPHA:3163 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... |
OMIM:618761 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Retinal detachment, Highly arched eyebrow, Abnormality of the dentitio... |
ORPHA:2712 |
| Pachyonychia Congenita 2 |
|
Natal tooth, Sparse scalp hair, Dry hair, Epidermoid cyst, Angular cheilitis, Subungual hyperkera... |
OMIM:167210 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Abnormal midbrain morphology, Micrognathia, Sparse eyebr... |
ORPHA:444072 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Subcutaneous nodule |
ORPHA:337 |
| Char Syndrome |
|
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Patent ductus arterio... |
ORPHA:46627 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Conical in... |
OMIM:261540 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Wide nasal bridge, High palate, Hyperpigmentation of the skin |
ORPHA:50812 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Alveolar bone loss around teeth, Inguinal hernia, Hiatus hernia, Pretibial hyperpigmentation, Atr... |
OMIM:130080 |
| Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Aplasia/Hypoplasia... |
ORPHA:3474 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Optic atrophy, Fine hair, Premature graying of hair, Exudative retinopath... |
OMIM:612199 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi... |
ORPHA:10 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Thin ... |
OMIM:614438 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Micrognathia, Carious teeth, Elbow flexion contracture, Knee flexion contracture, Co... |
OMIM:601559 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Nail dyst... |
OMIM:226600 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Micrognathia, Hyperconvex fingernails, Coarse hair, Widely spaced teeth, Sparse ha... |
ORPHA:1071 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Skin erosion, Localized ski... |
ORPHA:79410 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Abnormality of dental color, Nevus sebaceous, Linear nevus sebaceous, Coloboma, Nevus, ... |
OMIM:163200 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Inguinal hernia, Anterior pituitary hypoplasia, Micrognathia, Abnormality ... |
OMIM:151050 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi... |
OMIM:616354 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Reduced circulating prolactin concentration, Abnormality of the dentition, Pigmentary retinopathy... |
ORPHA:2235 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Congenital diaphragmatic hernia, Abnormality of the dentitio... |
OMIM:304110 |
| Momo Syndrome |
|
Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Wide... |
OMIM:157980 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... |
ORPHA:1979 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Fine hair |
OMIM:272300 |
| Xeroderma Pigmentosum |
|
Macule, Craniofacial hyperostosis, Alopecia, Conjunctival telangiectasia, Hypermelanotic macule, ... |
ORPHA:910 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Hyperpigmentation of the skin, Hypoplasia of the maxilla... |
ORPHA:50814 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Abnormality of skin pigmentation, Thin skin, Retinopathy |
ORPHA:743 |
| Incontinentia Pigmenti |
|
Orofacial cleft, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of th... |
ORPHA:464 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Optic neuritis, Oral ulcer |
OMIM:301080 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Delayed eruption of primar... |
ORPHA:819 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Dysplastic corpus callosum, Synophrys, High palate, Hypodontia, Sparse hai... |
OMIM:616854 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Hy... |
ORPHA:2930 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic ... |
OMIM:618373 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Micrognathia, ... |
OMIM:190350 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Triangular mouth, Agenesis of corpus callosum, Wide nasal bridge |
ORPHA:166024 |
| Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Naevus flammeus of the eyelid, Dow... |
ORPHA:3107 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... |
ORPHA:915 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Ski... |
ORPHA:1775 |
| X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Thin skin, Hernia |
ORPHA:75497 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis |
OMIM:176100 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Nail dystrophy, Hypodontia, Enamel hypoplasia, Anonychia |
OMIM:616029 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Abnormal hair morphology, Paronychia, Wi... |
ORPHA:2314 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ... |
OMIM:618825 |
| Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Skin tags, Alopecia, Sparse eyelashes, Microgna... |
ORPHA:2067 |
| Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... |
ORPHA:202 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Scarring |
ORPHA:346 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fingernail, Delayed ... |
OMIM:619356 |
| Kury-Isidor Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Alopecia, Exudative vitreoretinopathy, High palate, Wi... |
OMIM:619762 |
| Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Narrow mouth,... |
OMIM:613804 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Sparse scalp hair, Retinal dystrophy, Accessory oral frenulum, Micrognathia, Pancreatic cysts, Ro... |
OMIM:266920 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Opt... |
OMIM:618727 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Abnormal toenail m... |
ORPHA:89843 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Sparse scalp hair, Hypoplastic fifth toenail, Decreased response to gr... |
OMIM:615866 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
| Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormali... |
ORPHA:314621 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Carious teeth, Hepatic necrosis, Nail pits, Premature graying of hair, Ret... |
OMIM:127550 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Abnormality of the dentition |
ORPHA:177 |
| Keutel Syndrome |
|
Alopecia, Optic atrophy, Dermal atrophy, Recurrent sinusitis |
ORPHA:85202 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Abnormality of the dentition, Conical tooth, Cryptorchidism, Fine hair, Agenesis of cor... |
ORPHA:228390 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Partial agenesis of th... |
OMIM:234050 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi... |
ORPHA:137834 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick vermilion border,... |
OMIM:618506 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Everted lower lip vermilion |
OMIM:242510 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth, Abnormality of the nail |
OMIM:184510 |
| Classic Mycosis Fungoides |
|
Alopecia, Hypopigmented skin patches, Skin ulcer, Irregular hyperpigmentation, Skin plaque, Abnor... |
ORPHA:2584 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Reduced sub... |
OMIM:137940 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Micrognathia, ... |
ORPHA:1901 |
| Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the nipples, Orofaci... |
ORPHA:1896 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Thin skin |
OMIM:259410 |
| Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Thin skin, Striae distensae |
ORPHA:36382 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Highly arched eyebrow, Elongated superior cerebellar peduncle, Wide nasal brid... |
OMIM:608629 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Dental crowding, Atrophic scars, High palate, Thin skin, Thick eyebrow |
ORPHA:230851 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Patchy alopecia, High palate,... |
ORPHA:85279 |
| Teebi Hypertelorism Syndrome 1 |
|
Preauricular pit, Thin upper lip vermilion, Natal tooth, Hypopigmented macule, Dental crowding, O... |
OMIM:145420 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Sparse hair, Abnormality of the nail, Abnormal... |
ORPHA:2710 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Short nose... |
OMIM:164200 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum, Recurrent sinusitis |
OMIM:616576 |
| Meier-Gorlin Syndrome 1 |
|
Hyperconvex nail, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Flexion contracture, C... |
OMIM:224690 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Scarring, Patchy alopecia, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Sparse eyelashes, Short nail, Limb joint contracture, Micrognathia, Absent eyelashes... |
OMIM:275210 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Onychauxis, High palate, Advanced eruption of teeth, Hypertrichosis |
OMIM:262190 |
| Bresek Syndrome |
|
Decreased testicular size, Alopecia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Neonat... |
ORPHA:85284 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Epidermoid cyst, Abnormality of the dentition, Pilomatrixoma, Supernume... |
ORPHA:79665 |
| Atypical Werner Syndrome |
|
Micrognathia, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Retinal deg... |
ORPHA:79474 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Alopecia, Abnormal hair pattern, Abnormality of the dentition, Oligodo... |
ORPHA:2315 |
| Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... |
ORPHA:1647 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Flexion contracture, Sparse body hair, Aplasia/Hypoplasia of the eye... |
ORPHA:2850 |
| Hutchinson-Gilford Progeria Syndrome |
|
Malar flattening, Alopecia, Absence of subcutaneous fat, Micrognathia |
OMIM:176670 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Micrognathia, Absent eyelashes, Rod-cone dystrophy, Cr... |
ORPHA:166035 |
| Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Thin skin, Hernia |
|
