| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Hypoplastic toenails, Spars... |
ORPHA:2722 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Chromosome breakage, Miscarriage, Proximal placement of thumb, Absent thumb, Sh... |
OMIM:613390 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Short thumb, T-cell acute lymphoblastic leukemias, Anal atresia, Cafe-au-... |
OMIM:605724 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... |
ORPHA:294975 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Myelodysplasia, Abnormal thumb morphology, Multiple cafe-au-... |
OMIM:614082 |
| Thumb Deformity And Alopecia |
|
Alopecia, Short stature, Short thumb, Increased groin pigmentation with raindrop depigmentation, ... |
OMIM:188150 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Multiple lipomas, Hand polydactyly, Sacral lipoma... |
OMIM:223200 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... |
ORPHA:2325 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Alopecia totalis, Tapered finger, Short finger, Death in childhood, Abnorma... |
OMIM:302000 |
| Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate |
OMIM:600331 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Enchondromatosis, Multiple, Ollier Type |
|
Abnormal long bone morphology, Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate... |
OMIM:617883 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit... |
ORPHA:2228 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Severe short stature, Hyperpigmentation of the skin, Camptodactyly o... |
ORPHA:2251 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Short thumb, Duplication of thumb phalanx, Chromosomal breakage induced b... |
OMIM:616435 |
| Cronkhite-Canada Syndrome |
|
Hypoplastic toenails, Hamartomatous polyposis, Abnormality of skin pigmentation, Stomach cancer, ... |
ORPHA:2930 |
| Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Short thumb, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Melanoc... |
ORPHA:1008 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... |
ORPHA:248 |
| Progressive Osseous Heteroplasia |
|
Sarcoma, Hypermelanotic macule, Brachydactyly |
ORPHA:2762 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Hepatomegaly, Malabsorption, Splenomegaly, Lymphad... |
ORPHA:100025 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... |
ORPHA:2756 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Severe short stature, Carious teeth, Hip dislo... |
OMIM:203550 |
| Candidiasis, Familial, 1 |
|
Alopecia, Premature loss of teeth |
OMIM:114580 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Small for gestational age, Decreased response to growth hormone s... |
OMIM:275400 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical... |
OMIM:613573 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... |
ORPHA:189 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:3363 |
| Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... |
ORPHA:2222 |
| Ollier Disease |
|
Chondrosarcoma, Micromelia, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangiom... |
ORPHA:296 |
| Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Alopecia, Curly eyelash... |
ORPHA:3051 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Kerion Celsi |
|
Alopecia, Lymphadenopathy |
ORPHA:499 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
| Fanconi Anemia, Complementation Group N |
|
Short thumb, Medulloblastoma, Neuroblastoma, Nephroblastoma, Cafe-au-lait spot, Chromosomal break... |
OMIM:610832 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Short metacarpal, Multiple exostoses, Pelvic bone exostoses, Protuberances at end... |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Chondrosarcoma, Short metacarpal, Multiple exostoses, Pelvic bone exostoses, Protuberances at end... |
OMIM:133700 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short 3rd toe, Short 2nd toe, Short 5th finger, Short 4th toe, Short 5th toe, Chromosomal breakag... |
OMIM:619060 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt... |
ORPHA:2026 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Short stature, Hypermelanotic macule, Tapered finger, Abnormal hair morphology, Erythem... |
ORPHA:317 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Hamartoma |
OMIM:300484 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Nevus Comedonicus Syndrome |
|
Hamartoma, Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Juvenile Hyaline Fibromatosis |
|
Abnormality of the gastrointestinal tract, Death in infancy, Abnormal hair morphology, Gingival f... |
ORPHA:2028 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Polydactyly |
OMIM:615990 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
| Radial-Renal Syndrome |
|
Absent radius, Chromosome breakage, Absent thumb |
OMIM:179280 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Fanconi Anemia, Complementation Group P |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Squamous cell carcinoma, Cafe-au-lait spot, ... |
OMIM:613951 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Abnormality of skin pigmentation, Bone marrow hypocellularity, Nail dyst... |
OMIM:616353 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Abnormality of the dentition, Growth delay, Epiphyseal stipp... |
ORPHA:177 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Abnormality of th... |
ORPHA:79397 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Lymphaden... |
ORPHA:2584 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Alopecia, Short hallux, Aplasia/Hypoplasia of the phalanges of the hallux, Abnorma... |
ORPHA:337 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Hip dysplasia, Short middle phalanx of finger, Abnormal... |
ORPHA:63442 |
| Bloom Syndrome |
|
Syndactyly, Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Spotty hypopigmen... |
OMIM:210900 |
| Aredyld Syndrome |
|
Mandibular prognathia, Hepatomegaly, Smooth philtrum, Craniofacial hyperostosis, Short stature, A... |
ORPHA:1133 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Aase-Smith Syndrome |
|
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Neoplasm, Talipes equino... |
ORPHA:916 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal fingernail morphology, Abnormal ... |
ORPHA:1028 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Cutaneous synd... |
ORPHA:2890 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contracture of finger,... |
OMIM:606242 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Abn... |
ORPHA:1278 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Acrofacial Dysostosis, Weyers Type |
|
Overlapping fingers, Abnormal fingernail morphology, Conical tooth, Hypoplastic toenails, Abnorma... |
ORPHA:952 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
| Acquired Ichthyosis |
|
Lymphoma, Neoplasm, Palmoplantar keratoderma, Multiple myeloma, Sarcoma |
ORPHA:454 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... |
ORPHA:2025 |
| Immunodeficiency 54 |
|
Chromosome breakage, Lymphoproliferative disorder, Hyperpigmentation of the skin |
OMIM:609981 |
| Isolated Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Short stature, Abnormality of the tonsils, Abnormality of neutrophi... |
ORPHA:229717 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
| Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ... |
OMIM:102370 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Abnormality of the philtrum, M... |
ORPHA:2863 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased body ... |
OMIM:614450 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High... |
OMIM:618142 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the upper limb |
ORPHA:2023 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Renpenning Syndrome |
|
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Severe short stature, Macrodontia... |
ORPHA:3242 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
| Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hypopigmented skin patches, Abnormality of ... |
ORPHA:626 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st me... |
OMIM:617247 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Severe short stature, Rhizomelia, Micrognathia, Flared metaphysis, Cleft palate, Epiphy... |
OMIM:215100 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Cli... |
OMIM:609638 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent... |
OMIM:612841 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Short stature, Hypodontia, Delayed pubert... |
ORPHA:1816 |
| N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Neoplasm |
OMIM:310465 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... |
OMIM:129500 |
| Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
| Acrogeria |
|
Short stature, Micrognathia, Small hand, Skin ulcer, Fine hair, Short foot, Excessive wrinkled sk... |
ORPHA:2500 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Coffin-Siris Syndrome 2 |
|
Low anterior hairline, High palate, Short philtrum, Short stature, Cryptorchidism, Absent fifth t... |
OMIM:614607 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... |
ORPHA:3098 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... |
ORPHA:2985 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,... |
OMIM:129400 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Squared iliac bon... |
OMIM:616300 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H... |
OMIM:226650 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Sinusitis, Short stature, Abnormality of the tonsils, Malabsorption, Abnormality of the... |
ORPHA:47 |
| Filippi Syndrome |
|
Microdontia, Postnatal growth retardation, Cryptorchidism, 2-4 toe syndactyly, Cutaneous syndacty... |
OMIM:272440 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of toe, Hypopigmentation of the skin, Brachydactyly, Mandibular prognathia, ... |
OMIM:601957 |
| Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of... |
OMIM:190350 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Alopecia, Short stature, Abnormal hair pattern, Mala... |
ORPHA:2315 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Slow-growing hair, Thick hair, Short stature, Abnormal dental enamel m... |
ORPHA:2107 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Prolidase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Abnormal fingernail morphology, Arachnodactyly... |
ORPHA:742 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Short stature, Cachexia |
ORPHA:2574 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,... |
ORPHA:420561 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Metacarpophalangeal joint hyperextensibility |
OMIM:300624 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Anorectal anomaly, Premature g... |
ORPHA:1775 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Hypopigmented skin patches, Skin ulcer, Onyc... |
ORPHA:525 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair, Short stature, High palate, Intrauterine growth retardation... |
ORPHA:50812 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Fanconi Anemia, Complementation Group E |
|
Hyperpigmentation of the skin, Absent thumb, Absent radius, Short thumb, Deficient excision of UV... |
OMIM:600901 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hyperpigmentation of the skin, Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartoma... |
OMIM:175500 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Short stature, Carious teeth, Melanocytic nevus, Small pituitary gland, Hypodontia, Del... |
OMIM:612079 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Short stature, Accessory oral frenulum, Osteolysis involving bones of the u... |
ORPHA:88630 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Skin ulcer, Weight loss, Leukopenia, Failure to thrive... |
ORPHA:33355 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Chromosome breakage, Absent thumb |
OMIM:615272 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
| Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Short stature, Partial albinism, Neutropenia |
ORPHA:90023 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Abnormality of skin pigmentation, Deficient excision of... |
OMIM:227650 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Porphyria Cutanea Tarda |
|
Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Hyperpigmentat... |
OMIM:176100 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Chromosome breakage, Congenital hip dislocation, O... |
OMIM:617052 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Abnormal dental mo... |
ORPHA:978 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Chromosomal breakage induced by crosslinking agents, Agenesis of ... |
OMIM:617244 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... |
ORPHA:3019 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature, Narrow mouth, Abnormal or... |
ORPHA:1355 |
| Cog7-Cdg |
|
Hepatomegaly, Small for gestational age, Micrognathia, Postnatal growth retardation, Long fingers... |
ORPHA:79333 |
| Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Cornelia De Lange Syndrome 2 |
|
Smooth philtrum, Thin upper lip vermilion, Thick eyebrow, Short stature, Highly arched eyebrow, P... |
OMIM:300590 |
| Short Stature, Dauber-Argente Type |
|
Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular diameter, P... |
OMIM:619489 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Pseudohypoparathyro... |
OMIM:612463 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Autoimmune hemolytic anemia, Atrophic gastritis, Pyoderma gangrenosum, Recurrent sinusi... |
OMIM:616576 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin |
OMIM:212360 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Mohr Syndrome |
|
Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ... |
OMIM:252100 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Flynn-Aird Syndrome |
|
Carious teeth, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Short stature, Coxa valga,... |
ORPHA:166272 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Short stature, Dental crowding, Highly arched eyebrow, Micrognathia, Persistence of... |
OMIM:618342 |
| Trisomy 4P |
|
Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial h... |
ORPHA:1738 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Multiple lipomas, ... |
ORPHA:210548 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Malabsorption, Paronychia, Ery... |
ORPHA:37 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Sparse eyebrow, Abn... |
ORPHA:884 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Retinal pigmen... |
OMIM:617102 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Sparse eyebrow, Death in adolescence, Tooth... |
OMIM:605676 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Macular hypopigmented whorls, streaks, and patches, Thick lower lip vermili... |
OMIM:300337 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Split hand, Growth delay, Sparse body hair, Aplasia/H... |
ORPHA:2850 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Finger syndactyly, Alope... |
ORPHA:3253 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Hypomelanotic macule, Nail dystro... |
OMIM:618373 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Preaxial hand polydactyly, Cari... |
ORPHA:2316 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Short metacarpal, Brachydactyly, Short stature, Meta... |
OMIM:184260 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Brachydactyly, Dental crowding, Splenomegaly, Macrogloss... |
OMIM:616354 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Failure to thrive, Brittle hair, Short stature, Natal tooth, Bilateral crypt... |
OMIM:616395 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... |
ORPHA:971 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ... |
OMIM:257850 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Facial ery... |
OMIM:612843 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Aplastic anemia, Short stature, Avascular necrosis of the capital femoral... |
OMIM:613990 |
| Paraneoplastic Pemphigus |
|
B-cell lymphoma, Oral mucosal blisters, Oral ulcer, Thymoma, Sarcoma |
ORPHA:63455 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... |
ORPHA:507 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... |
OMIM:613382 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short stature, Small for gestational age, Micrognathia, Postnatal grow... |
ORPHA:73272 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Pallor, Hyperplas... |
ORPHA:231226 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Absent thumb, Absent radius, Esophageal atresia, Chromosomal breakage induce... |
OMIM:614083 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
| Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Metaphyseal spurs, Metaphyseal widening, Cutis laxa, Death... |
OMIM:309400 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Brachydactyly, Malar flattening, Cryptorchidism, Short m... |
OMIM:614613 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| Werner Syndrome |
|
Renal neoplasm, Abnormality of retinal pigmentation, Acral lentiginous melanoma, Miscarriage, Roc... |
ORPHA:902 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Brachydactyly, Toe syndactyly, Short stature, Camptodactyly... |
ORPHA:1327 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... |
ORPHA:79106 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Hypodontia, Sparse hair, Aplasia/Hyp... |
ORPHA:50944 |
| Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Short stature, Hirsutism, Short distal phalanx of the 5th finger, Cleft palate... |
OMIM:614608 |
| Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Downturned corners o... |
OMIM:300882 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Death in infancy, Syndactyly, Carious teeth, Pyloric stenosis, Nail dystrophy, Nail dysplasia, En... |
OMIM:226700 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon |
OMIM:235750 |
| Satoyoshi Syndrome |
|
Short metacarpal, Alopecia, Short stature, Malabsorption, Short metatarsal, Osteolytic defects of... |
OMIM:600705 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... |
OMIM:614592 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, D... |
ORPHA:39041 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Cafe-au-lait spot, Short 1st metacarpal, Chr... |
OMIM:609053 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Bresek Syndrome |
|
Alopecia, Aganglionic megacolon, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, Growth... |
ORPHA:85284 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... |
OMIM:132400 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... |
ORPHA:202 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, Anter... |
OMIM:268400 |
| Fanconi Anemia, Complementation Group C |
|
Hyperpigmentation of the skin, Absent thumb, Absent radius, Short thumb, Deficient excision of UV... |
OMIM:227645 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Small for gestational age, Short stature, Onychauxis, High palate, Advance... |
OMIM:262190 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... |
ORPHA:71526 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small for gestational age, Short stature, Decreased ... |
ORPHA:2980 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Natal tooth, Sparse eyelashes, Short stature, Sparse eyebrow, Hypoplastic swea... |
OMIM:601345 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Narrow mouth, Esophageal str... |
OMIM:226600 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Alopecia, General... |
OMIM:615559 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... |
OMIM:227270 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis, Oral ulcer |
OMIM:618287 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:277440 |
| Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Micrognathia, Thrombocytopenia, Splenomegaly, Skin ulcer, Low posterior ... |
OMIM:170100 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Pallor, Hyperplasia of the maxi... |
ORPHA:231214 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
| Fanconi Anemia, Complementation Group F |
|
Hyperpigmentation of the skin, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger sy... |
OMIM:603467 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrop... |
ORPHA:1882 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Cone-shaped epiphysis, Short philtrum, Dentinogenesis i... |
ORPHA:71267 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Camptodactyly of finger, Tapered fing... |
OMIM:612350 |
| Short Syndrome |
|
Alopecia, Severe short stature, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3163 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Dysph... |
OMIM:619751 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Patellar hypoplasia, Facial erythema, High palate, Neutropenia, Sparse hair, Mic... |
ORPHA:221016 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater scia... |
OMIM:256050 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of ... |
ORPHA:424019 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Postaxial hand polydactyly, Abnormality of the anterior pi... |
ORPHA:75389 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of the capital fe... |
OMIM:190351 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial fo... |
OMIM:603671 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Patellar hypoplasia, Facial erythema, Neutropenia, Sparse hair, Microdontia, Sho... |
ORPHA:221008 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Glossoptosis, Long philtrum, Abnormal metacarpal morphology, Exostoses |
ORPHA:166100 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Short stature, Tapered finger, Cryptorchidism, Spotty... |
ORPHA:1867 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Syndactyly, Polydactyly, Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
| Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate |
OMIM:614120 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea... |
OMIM:617925 |
| Craniolenticulosutural Dysplasia |
|
Smooth philtrum, Delayed eruption of teeth, Brittle hair, Short stature, Hypoplasia of the maxill... |
ORPHA:50814 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism... |
ORPHA:85279 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... |
OMIM:614564 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bowing of the ... |
OMIM:112250 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Short palm, Severe short stature, Abnormal dental morp... |
ORPHA:2176 |
| Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
| Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp... |
ORPHA:2309 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Small for gestational age, Rocker bottom foot, Coxa valga, Micrognathi... |
OMIM:214150 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Lymphadenopathy, Fine hair, Ovarian neopla... |
ORPHA:2221 |
| Flynn-Aird Syndrome |
|
Carious teeth, Alopecia, Skin ulcer, Cachexia |
ORPHA:2047 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Short stature, Esophageal stricture, Nail dystrophy, Hypodontia, Dysph... |
OMIM:616029 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Cafe-au-lait spot |
OMIM:618097 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the dentition, Skin ulcer, Abnormal diaphysis morphology, Oligo... |
ORPHA:1657 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decr... |
ORPHA:169154 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Anal... |
OMIM:607323 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... |
OMIM:618761 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate |
OMIM:600252 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp... |
OMIM:616367 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Alopecia, Brittle hair, Dental crowding, Micrognathia, Hypoplasia of te... |
OMIM:608612 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Brachydactyly, Tented upper lip vermilion, Rocker bottom foot, Proxi... |
OMIM:619762 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Abnormal fibula morphology, Coxa vara, Orofacial cleft, Cl... |
ORPHA:1988 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Sparse scalp hair, Short stature, Decreased response to growth hormone... |
OMIM:615866 |
| Monosomy 18P |
|
Alopecia, Short stature, Micrognathia, Carious teeth, Cleft palate, Low posterior hairline, Downt... |
ORPHA:1598 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Chronic hepatitis, Uncomb... |
OMIM:614602 |
| Gardner Syndrome |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Abnormality of skin pig... |
ORPHA:79665 |
| Aase-Smith Syndrome I |
|
Death in infancy, Cleft palate, Talipes equinovarus, Congenital neuroblastoma, Open mouth, Slende... |
OMIM:147800 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Perianal abscess, Small hand, Wide mouth, Broad finger, Long philtrum, ... |
OMIM:614684 |
| Incontinentia Pigmenti |
|
Ridged nail, Conical tooth, Abnormality of skin pigmentation, Coarse hair, Oligodontia, Pallor, S... |
OMIM:308300 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Selective tooth agenesis, Neutropenia, Sparse hair, Microdontia, Hypopigmentatio... |
ORPHA:2909 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly |
OMIM:210350 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
| Recon Progeroid Syndrome |
|
Smooth philtrum, Prominence of the premaxilla, Short stature, Arachnodactyly, Proximal placement ... |
OMIM:620370 |
| Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Cleft upper... |
ORPHA:915 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
| Macs Syndrome |
|
Eclabion, Irregular dentition, Alopecia, Short stature, Redundant skin, Micrognathia, Sparse eyeb... |
OMIM:613075 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin |
ORPHA:2786 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ... |
OMIM:614078 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Glioma, Micromelia, Postaxial hand polydactyl... |
OMIM:241800 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Eruption failure, Multiple lipomas, Pap... |
OMIM:175100 |
| Ane Syndrome |
|
Alopecia, Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stim... |
ORPHA:157954 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fingernail, Narrow m... |
OMIM:619356 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... |
OMIM:619797 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Protein-losing enteropathy, ... |
OMIM:608104 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... |
OMIM:104100 |
| Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Mic... |
ORPHA:763 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... |
ORPHA:93307 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Brachydactyly, Short stature, Small for gestational age, Sele... |
ORPHA:2959 |
| Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Thyroid lymphangie... |
OMIM:235255 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Severe short stature, Brachydactyly, Abnormal dental enamel morpholo... |
ORPHA:1005 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Nail pits, Hepatic necro... |
OMIM:127550 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Cryptorchidis... |
ORPHA:10 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology... |
ORPHA:2457 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Hepatocellular carcinoma, Splenomegaly, Intrahepatic cholestasis, In... |
OMIM:601847 |
| Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Thin upper lip vermilion, Short stature, Eosinophilia, Hyp... |
ORPHA:353298 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Hema... |
OMIM:243150 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Bowing of the ... |
OMIM:613849 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
| Satoyoshi Syndrome |
|
Short stature, Tapered finger, Abnormal hair morphology, Abnormality of the humerus, Abnormal fem... |
ORPHA:3130 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bo... |
OMIM:600785 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Short stature, T... |
ORPHA:3322 |
| Pycnodysostosis |
|
Ridged nail, Short stature, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence ... |
OMIM:265800 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, High anterior... |
ORPHA:94065 |
| Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Abnormality of the dentition, Abnormality of skin pigm... |
OMIM:620040 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Clinodactyly of the 5th f... |
ORPHA:2750 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... |
ORPHA:2712 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Hypopigmentation of hair, Premature graying of hair, Neoplas... |
ORPHA:100 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Obesity, Hirsutism |
OMIM:604931 |
| Sézary Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Dry skin, Lymphadenopathy, Nail dystrophy, Irregular hyperp... |
ORPHA:3162 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Hypermelanotic macule, Abnormality of neutrophils, Malabs... |
ORPHA:379 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Dental... |
OMIM:612921 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Short stature, Celiac disease, Postnatal growth retardation, Weight ... |
OMIM:212750 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia... |
OMIM:113000 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert... |
OMIM:619736 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed p... |
OMIM:615704 |
| Rapadilino Syndrome |
|
Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft palate, Aplasia/Hypop... |
OMIM:266280 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly |
OMIM:248340 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Short stature, Small hand, Obesity, Short foot, Abnormal ulnar metaphys... |
ORPHA:177910 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Short stature, Coarse metaphyseal trabecularization, Premature los... |
ORPHA:93160 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finge... |
OMIM:235510 |
| Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... |
ORPHA:46627 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, He... |
OMIM:304790 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Fine hair, Furrowed ... |
ORPHA:1839 |
| Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... |
OMIM:112350 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Schwannoma, Clubbing, Gonadal neoplasm, Thin ... |
ORPHA:96123 |
| Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Albinism, Large for gestational age, Total... |
OMIM:600501 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... |
ORPHA:251393 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Supernumerary nipple, Abnormality of t... |
ORPHA:3224 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
| Laron Syndrome |
|
Delayed eruption of teeth, Severe short stature, Micrognathia, Short toe, Truncal obesity, Tooth ... |
ORPHA:633 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Alopecia, Brachydactyly, Portal hypertension, Con... |
ORPHA:974 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski... |
ORPHA:2269 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Hypopl... |
ORPHA:235 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Micrognathia, Conical tooth, Hyperconvex fingernails, Coarse hair, Widely spaced teeth, Clinodact... |
ORPHA:1071 |
| Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... |
OMIM:614815 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Cheilitis, Abnormality of the nail, Aplasi... |
ORPHA:129 |
| Coffin-Lowry Syndrome |
|
Redundant skin, Hypoplasia of the maxilla, Hyperconvex fingernails, High palate, Widely spaced te... |
ORPHA:192 |
| Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Micrognathia, Postnatal growth retar... |
ORPHA:1655 |
| Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Micrognathia, Bilateral cryptorchidism, Abnormality of hair pigment... |
OMIM:618156 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
| Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Short stature, Small for gestational age, Splenomegaly, Cryptorchidism, Low anterio... |
OMIM:618440 |
| Lig4 Syndrome |
|
Abnormality of chromosome stability, Malabsorption, Lymphoma, Acute leukemia, Thin vermilion bord... |
ORPHA:99812 |
| Odontomicronychial Dysplasia |
|
Thin nail, Short nail, Abnormality of the dentition, Carious teeth, Premature loss of primary tee... |
ORPHA:1811 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Abnormality of skin pigment... |
ORPHA:834 |
| Neurofibromatosis Type 1 |
|
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Heterochromia iridis, Spinal neurofibr... |
ORPHA:636 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Sparse... |
OMIM:613026 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplen... |
OMIM:240300 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Micrognathia, Postnatal growth retardation, Cryptorchid... |
ORPHA:96184 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth, Abnormality of the nail |
OMIM:184510 |
| Incontinentia Pigmenti |
|
Orofacial cleft, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of th... |
ORPHA:464 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Limited elbow extension, Short metatarsal, Small h... |
OMIM:180870 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu... |
OMIM:616546 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Wide mouth, Stillbir... |
OMIM:243605 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Reticulated skin pigmentation, Fragile nails, Premature loss of teeth, Hypopigmentation of the sk... |
ORPHA:69087 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... |
OMIM:615986 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Clef... |
ORPHA:158687 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Death in infancy, Natal tooth, Short stature, Sparse eyelashes, Micrognathia, ... |
OMIM:616901 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Hypoplastic toenails, Conical incisor, Microdontia, Neonatal sho... |
ORPHA:289 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Congenital hip dislocation, Cleft palate |
OMIM:164180 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Gastroesophageal reflux, Widely spaced teeth, Decreased body weight, Amelogenesis imperfecta, Ove... |
OMIM:619229 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglioni... |
ORPHA:897 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, D... |
ORPHA:263463 |
| Chilblain Lupus 1 |
|
Abnormality of the nail, Skin ulcer |
OMIM:610448 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp... |
OMIM:225500 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Cleft palate, Abnormal toenail morphology |
ORPHA:494 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
| Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the submandibular glands, Skin u... |
ORPHA:79493 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Hepatomegaly, Dental crowding, Down-sloping shoulders, Coxa valga, P... |
OMIM:248370 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
| Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi... |
OMIM:618506 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned corners of mou... |
ORPHA:955 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Smooth philtrum, Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet v... |
OMIM:300048 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Short stature, Dental crowding, Coxa valga,... |
OMIM:269300 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Eosinophilia, Abnormality of the dentition, Micrognathia, High palate, Recurrent sinusi... |
OMIM:618282 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair... |
OMIM:209885 |
| Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
| Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation, Narrow foramen obturato... |
ORPHA:220402 |
| Centrifugal Lipodystrophy |
|
Lymphadenitis, Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ... |
OMIM:615761 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Brushfield spots, Non-midline cleft lip, Hypopigmented skin ... |
ORPHA:1784 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... |
OMIM:210720 |
| Kabuki Syndrome 2 |
|
Natal tooth, Brachydactyly, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth ... |
OMIM:300867 |
| Chime Syndrome |
|
Short philtrum, Short palm, Sparse hair, Microdontia, Abnormal dental morphology, Aplastic clavic... |
ORPHA:3474 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
| 4H Leukodystrophy |
|
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... |
ORPHA:289494 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Short toe, Erythema, Growth delay, Everted lower l... |
OMIM:242100 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi... |
OMIM:618825 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... |
ORPHA:79477 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... |
OMIM:603554 |
| Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Glossoptosis, Clinodactyly of the 5th finger, Sparse hair, Alo... |
ORPHA:2108 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Short stature, Carious teeth, ... |
OMIM:607812 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Eosinophilia, Abnormality of the dentition, Abnormal hair morphology, ... |
ORPHA:2314 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyel... |
OMIM:137940 |
| Alg6-Cdg |
|
Jaundice, Shortening of all distal phalanges of the fingers, Macroglossia, Abnormality of the liv... |
ORPHA:79320 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac... |
OMIM:607131 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Skin vesicle, Hypoplastic f... |
ORPHA:257 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Widely-spaced incisors, Fine hair, Woolly scalp hair... |
ORPHA:79414 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n... |
ORPHA:83469 |
| Acrocraniofacial Dysostosis |
|
Short stature, Abnormal fingernail morphology, Tapered finger, Coxa valga, Micrognathia, Cleft pa... |
ORPHA:949 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormality of the dentition, Split hand, Abnormal pelvic girdle bone ... |
OMIM:157900 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Death in infancy, Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
| Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic mega... |
ORPHA:894 |
| Split-Hand/Foot Malformation 3 |
|
Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ... |
OMIM:184250 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
| Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Hepatic fibrosis, Sparse hair, Microretrognathia, Syndac... |
OMIM:311200 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Alopecia, Short hallux, Metaphyseal widening, Abnormality of the first metatarsal ... |
OMIM:135100 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger |
OMIM:242500 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Onychauxis, Low anterior hairline, Premature graying of h... |
ORPHA:769 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger |
OMIM:181180 |
| Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Gingivitis, Dystrophic fingernails, Finger syndactyly, Short stature, Open bite, Skin... |
ORPHA:2907 |
| Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
| Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Short stature, Micr... |
ORPHA:2067 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... |
OMIM:225060 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Abnormality of retinal pigmentation, Severe short statur... |
OMIM:309900 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Alopecia, Short metacarpal, Short stature, Micrognathia, Absent ey... |
ORPHA:166035 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Hypopigmented skin patches, Celiac disease |
ORPHA:3143 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... |
OMIM:619148 |
| Osteoglosphonic Dysplasia |
|
Severe short stature, Rhizomelia, Failure to thrive in infancy, Micrognathia, Cryptorchidism, Mul... |
ORPHA:2645 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Short stature, Abnormal ... |
ORPHA:1458 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer, Anal canal squamous carcinoma, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis |
ORPHA:217390 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... |
OMIM:619142 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Abnormality of the dentition, Absent eyelas... |
ORPHA:90153 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... |
OMIM:617237 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... |
ORPHA:848 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Perianal erythema, Paronychia, Perioral erythema, Failure to thrive,... |
OMIM:614328 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... |
ORPHA:2549 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... |
ORPHA:3214 |
| Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Short fourth metatarsal, Short fifth metatarsal, Clinodactyly of the 5th toe, 2-3 toe s... |
OMIM:261990 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Death in infancy, Fine hair |
OMIM:272300 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot |
OMIM:601349 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Dental crowding,... |
OMIM:614008 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate |
OMIM:607361 |
| Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma |
ORPHA:69077 |
| Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Hyperconvex nail, Large for gestational age, Thick lowe... |
ORPHA:2563 |
| Bathing Suit Ichthyosis |
|
Eclabion, Alopecia, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair |
ORPHA:100976 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Short stature, Acral ulceration |
OMIM:614213 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Pyoderma gangrenosum, Lymphadenopathy, B lymph... |
OMIM:150550 |
| Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognathia, Dental ma... |
OMIM:269880 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Alopecia totalis, Aplasia/Hypoplasia of the ... |
ORPHA:1234 |
| 3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Roc... |
ORPHA:2616 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hemolytic anemia, Short stature, Hepatomegaly, Hyperpigmentation of the... |
OMIM:263700 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Gingival overgro... |
ORPHA:175 |
| Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... |
OMIM:615222 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... |
OMIM:615777 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Abnormal fib... |
ORPHA:2063 |
| Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio... |
OMIM:620099 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Gingival overgrowth, W... |
ORPHA:137834 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... |
ORPHA:544254 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Carious teeth, ... |
ORPHA:93324 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short stature, Decreased response to growth hormone stimulation test, Thin vermilion bo... |
OMIM:601853 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Dental malocclu... |
OMIM:608940 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, Intrauterine gr... |
ORPHA:228390 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Short metatarsal, Pseudohy... |
OMIM:103580 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ... |
ORPHA:96263 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Large for gestational... |
ORPHA:544488 |
| Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ... |
ORPHA:238468 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Genu valgum, Cli... |
OMIM:620072 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, High, narrow palate, P... |
ORPHA:2409 |
| Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Wi... |
OMIM:108721 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ... |
OMIM:113300 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Short stature, Micrognathia, Hypop... |
ORPHA:85201 |
| Cardiospondylocarpofacial Syndrome |
|
Severe short stature, High, narrow palate, Short palm, Failure of eruption of permanent teeth, To... |
ORPHA:3238 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplastic toenails, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Everted lower lip vermilion |
OMIM:242510 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of... |
ORPHA:2136 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos... |
OMIM:614175 |
| Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Postaxial polydactyly |
OMIM:614500 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Short stature, Abnormality of the dentition, Skin ulcer, Fine hai... |
ORPHA:1806 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Cleft palate, Cleft upper lip |
OMIM:613885 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Dysphagia, ... |
ORPHA:2070 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Chromoso... |
OMIM:620133 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... |
ORPHA:69735 |
| Branchio-Oculo-Facial Syndrome |
|
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Premature grayi... |
ORPHA:1297 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Colitis, Thrombocytosis |
OMIM:604416 |
| Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ... |
OMIM:618950 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase... |
ORPHA:398063 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Abnormal fingertip morphology, Micrognathia, Abnormal hair morphology, N... |
ORPHA:90154 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Cleft palate, Narrow mouth |
ORPHA:93946 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly,... |
ORPHA:69085 |
| Desmoid Tumor |
|
Intestinal polyposis, Abnormality of retinal pigmentation, Intestinal obstruction, Malabsorption,... |
ORPHA:873 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hyperpigmentation of the skin, Oral mucosal blisters, Erythema, Onychogryposis, Depigme... |
ORPHA:79396 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp... |
OMIM:618727 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... |
ORPHA:570 |
| H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Histiocytosis, Short stature, Hyperpigmenta... |
ORPHA:168569 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... |
ORPHA:91138 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va... |
OMIM:309350 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... |
OMIM:234100 |
| Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Down-sloping shoulders, Abnormal... |
ORPHA:96264 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Sparse eye... |
OMIM:167210 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Pseudohypoparathyro... |
OMIM:612462 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Abnormality of the dentition, Reticulated skin pigm... |
OMIM:613989 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Absent frontal sinuses, Increased density of long bone diaphyses, High ... |
OMIM:305620 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
| Vascular Hyalinosis |
|
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Malabsorption |
OMIM:277175 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Failure to thrive, Short stature, Abnormality of the nail |
ORPHA:79394 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi... |
ORPHA:1307 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Steatorrhea, Protein-losing enteropathy, Hepatic fibrosis, Cirrhos... |
OMIM:602579 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Skin ulcer |
ORPHA:2337 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Thick upper lip vermilion, Short metacarpal, Single interphalangeal crease of fifth finger, Hypop... |
OMIM:611717 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co... |
ORPHA:2484 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi... |
ORPHA:397590 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Selective tooth agenesis, Absent eyelas... |
OMIM:106260 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment... |
OMIM:256710 |
| Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown discoloration of the teeth... |
OMIM:104570 |
| Focal Dermal Hypoplasia |
|
Abnormality of skin pigmentation, Gastroesophageal reflux, Abnormality of the nail, Finger syndac... |
ORPHA:2092 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Micrognathia, ... |
ORPHA:313855 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Short stature, Irregular, rachitic-like metaphyses, Subperiosteal bone... |
ORPHA:289157 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Congenital hip dislocation, Dental crowding, Redundant neck... |
ORPHA:96170 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Pyoderma gangreno... |
ORPHA:486 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer |
ORPHA:1114 |
| Chilblain Lupus |
|
Finger swelling, Skin ulcer, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaund... |
OMIM:211600 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Micrognathia, Low anterior hairline, Absent distal phalanges, Short middle phalanx of f... |
OMIM:614219 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
| Legius Syndrome |
|
Inguinal freckling, Acute monocytic leukemia, Non-small cell lung carcinoma, Axillary freckling, ... |
ORPHA:137605 |
| Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Redundant skin, Micrognathia, Sparse eyebrow, High, nar... |
OMIM:230740 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Hyperconvex fingernails, Downturned corners of mouth, Advanced eruption of teeth, Prominence of t... |
ORPHA:2215 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia... |
OMIM:615994 |
| Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Carious teeth, High, narrow ... |
OMIM:614976 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Toe syndactyly, Short stature, Failure to thrive in infancy, Tented upper ... |
ORPHA:819 |
| Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of skin pigmentation, Neoplasm, High palate, Triphalangeal... |
ORPHA:84 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Abnormality of chromosome stability, Absent thumb, Esophageal atresia, Tracheoe... |
OMIM:300514 |
| Momo Syndrome |
|
Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Obes... |
OMIM:157980 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Redundant skin, Wide mouth, Sparse or absent eyelashes, Breast aplasia... |
ORPHA:1231 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Cryptorchidi... |
OMIM:610253 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rec... |
ORPHA:79076 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Smooth philtrum, Brachydactyly, Thin upper lip vermilion, Short stature, M... |
OMIM:300534 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Malabsorption |
ORPHA:99811 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... |
ORPHA:1120 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hypopigmentation of hair, Obesity, Wide mouth, Hypopigmentation of the ski... |
ORPHA:411515 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ili... |
ORPHA:1427 |
| Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... |
OMIM:603194 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micrognathia, High, narrow palate, Synophrys, Downturned corners of ... |
OMIM:122470 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Testicular atrophy, Hy... |
OMIM:235200 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Erythema, Broad nail, Hepatiti... |
ORPHA:1334 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Disproportionate sh... |
OMIM:224300 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... |
OMIM:135500 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Erythema, High palate, Eosinophilia, Persistence of primary teeth |
OMIM:147060 |
| Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Short stature, Abnormal dental morphology, Abnormality of the dentition, Carious tee... |
ORPHA:158668 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
| Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro... |
OMIM:614700 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, Hamartoma of tong... |
OMIM:269860 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Dermal translucency, Congenital hip dislocation, Short stature, Postna... |
ORPHA:2962 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... |
ORPHA:404440 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepat... |
ORPHA:84064 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... |
ORPHA:534 |
| Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of m... |
ORPHA:3107 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Downturned corners of mouth, Gastroesophageal reflux, Widely spaced teeth,... |
OMIM:617865 |
| Adult Syndrome |
|
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Toe syndactyly, S... |
OMIM:103285 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Hypopigm... |
ORPHA:53271 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, De... |
ORPHA:647 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Aplasia/... |
ORPHA:1647 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Short stature, Failure to thrive, Splenomegaly, Enterocolitis, Ane... |
OMIM:616050 |
| Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of ski... |
OMIM:133540 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Breast hypoplasia, Hypoplastic nipples, Nail dysplasia |
OMIM:129550 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic iliac wing, Short ... |
OMIM:263650 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... |
ORPHA:77258 |
| Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Persistence of hemoglob... |
OMIM:619769 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Holocarboxylase Synthetase Deficiency |
|
Growth delay, Alopecia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Abnormality of dental color, Short stature, Abnormal toe morphology, Abnormal finger mo... |
OMIM:163200 |
| Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Albinism, Gingival bleeding, Hypopigmentation of the skin, Abnormal num... |
OMIM:614072 |
| Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Down-sloping shoulders, Cleft u... |
OMIM:109400 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... |
ORPHA:2884 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Pancreatitis, Polycystic ovaries, Abnormality of the nail, Advanced e... |
ORPHA:2348 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis, Lack of skin elasticity |
ORPHA:1366 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, Bi... |
OMIM:222470 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... |
ORPHA:443811 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... |
OMIM:218400 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
| Tarp Syndrome |
|
Finger syndactyly, Failure to thrive, Extramedullary hematopoiesis, Rocker bottom foot, Abnormal ... |
ORPHA:2886 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Short stature, Broad hallux, Sandal gap, Postnatal growth retardation, Hyposegmentati... |
OMIM:614800 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Short stature, Postnatal growth retardation, Thrombocytopenia, Metaphys... |
OMIM:612199 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Genu varum, Long toe, Absent... |
OMIM:264090 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
| Anti-Glomerular Basement Membrane Disease |
|
Purpura, Anemia, Persistence of primary teeth |
ORPHA:375 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... |
ORPHA:2010 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Pierre-Robin sequence, Flared metaphysis, Cleft palate,... |
OMIM:215150 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop... |
OMIM:305000 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,... |
OMIM:616738 |
| Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Malar flattening, Alopecia, Micrognathia |
OMIM:176670 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Alopecia, Hepatomegaly, Gastritis, Mediastinal lym... |
ORPHA:809 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Intrauterine g... |
OMIM:618541 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Short stature, Hip dislocation, Growth delay, Oligodontia... |
OMIM:614381 |
| Pitt-Hopkins Syndrome |
|
Short metatarsal, Finger clinodactyly, Gastroesophageal reflux, Short philtrum, Hiatus hernia, Ta... |
ORPHA:2896 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... |
OMIM:616331 |
| Keutel Syndrome |
|
Alopecia, Short stature, Recurrent sinusitis, Short distal phalanx of finger |
ORPHA:85202 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Acholic sto... |
OMIM:607765 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Carious teeth, Xerostomia, Skin ulcer, Narrow foramen obturatorium, Gastroesophage... |
ORPHA:220393 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Synophrys, ... |
ORPHA:476126 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Short stature, Cirrhosis, Sparse hair, Failure to thrive, Fragile nails |
OMIM:242150 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Micrognathia, Cryptorchidism, Synophrys, High, narrow palate, Long fingers, Hip ... |
ORPHA:96092 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leukopenia, Co... |
ORPHA:1328 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Cleft pal... |
ORPHA:790 |
| Mogs-Cdg |
|
Hepatomegaly, Alopecia, Thrombocytopenia, Retrognathia, Hepatosplenomegaly, Hydrocele testis, Lon... |
ORPHA:79330 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal... |
ORPHA:2050 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Thin upper lip vermilion... |
ORPHA:2232 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Anteriorly placed anus... |
OMIM:146510 |
| Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Alstrom Syndrome |
|
Hepatomegaly, Alopecia, Chronic active hepatitis, Short stature, Decreased response to growth hor... |
OMIM:203800 |
| Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari... |
OMIM:615190 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Failure to thrive |
OMIM:610768 |
| Yellow Nail Syndrome |
|
Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma |
ORPHA:662 |
| Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,... |
ORPHA:3440 |
| Trigonocephaly 1 |
|
High, narrow palate, Synophrys, Meckel diverticulum, Long philtrum |
OMIM:190440 |
| Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
| Marbach-Rustad Progeroid Syndrome |
|
Short stature, Femur fracture, Delayed eruption of primary teeth, Micrognathia, Growth delay, Eru... |
OMIM:619322 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses... |
OMIM:119600 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Alopecia, Long uvula, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus ... |
ORPHA:536532 |
| Emanuel Syndrome |
|
Broad jaw, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed eruption ... |
OMIM:609029 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Thrombocytopenia, Reti... |
ORPHA:508542 |
| Pde4D Haploinsufficiency Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Broad hallux, Abnormal dental enamel morphology, Shor... |
ORPHA:439822 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of ski... |
OMIM:216400 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer... |
OMIM:615948 |
| Raine Syndrome |
|
Mandibular prognathia, Death in infancy, Bowing of the long bones, Natal tooth, Short stature, Hi... |
OMIM:259775 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Severe short stature, Micrognathia, High, narrow palate, Facial hypero... |
ORPHA:2780 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Downturned corn... |
OMIM:613792 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Cubitus valgus, Deep philtrum, High palate |
OMIM:619750 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
| Oculodentodigital Dysplasia |
|
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... |
ORPHA:2710 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature, Split hand, Foot polydactyly, Phocomelia, Duodenal atresia |
ORPHA:3004 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Short stature, Arachnodactyly, Abnormal dental enamel morphology, Abnor... |
ORPHA:96169 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Epiphyseal dysplasia, Short stature, Carious teeth, Sple... |
OMIM:253200 |
| Sotos Syndrome |
|
Mandibular prognathia, Sparse eyebrow, Cryptorchidism, High, narrow palate, Long metacarpals, Inc... |
OMIM:117550 |
| Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Obesity |
OMIM:620195 |
| Takayasu Arteritis |
|
Gastrointestinal infarctions, Skin ulcer, Anemia, Weight loss |
ORPHA:3287 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Thin upper lip vermilion, Highly arched eyebrow, Microg... |
OMIM:619135 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Short stature, Dental crowding, Highly arched eyebrow, Mic... |
OMIM:145420 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Palmar pits, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Long fingers, High palate, Nail dysplasia, Small nail, Clinodactyly, Failure to ... |
OMIM:601110 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Short stature, Exag... |
ORPHA:261494 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Cleft soft palate, Intestinal malrotation, Leukocytosis, Genu valgum, Do... |
OMIM:619321 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morph... |
ORPHA:1782 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Increased body weight, Hirsutism |
OMIM:615830 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Autoimmune hemolytic anemia, Gastritis, Failure to thrive in infancy, Cachexia, Autoimm... |
ORPHA:37042 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Frequent Giardia lamblia infestation, Alopecia totalis, Decreased response to grow... |
OMIM:615577 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Everted lower lip vermilion, Hepatic steatosis |
OMIM:275630 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Oral ulcer, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc... |
ORPHA:309108 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the long bones,... |
ORPHA:85167 |
| Trisomy 9P |
|
Hypoplastic fingernail, Dental crowding, Hypoplastic toenails, Non-midline cleft lip, Impacted to... |
ORPHA:236 |
| Coffin-Siris Syndrome |
|
Low anterior hairline, Hepatoblastoma, Cryptorchidism, Prominent eyelashes, Small nail, Hypoplast... |
ORPHA:1465 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Polydactyly |
OMIM:613464 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Tented upper lip vermilion, Proximal placement of thumb, Large for ges... |
OMIM:229850 |
| Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
| Necrobiosis Lipoidica |
|
Erythema, Skin ulcer, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Neoplasm of the skeletal system, Neoplasm of head and neck, Abno... |
ORPHA:352540 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypoplasia, Amelog... |
OMIM:245660 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Hypermelanotic macule, Delayed eruption of primary teeth, Cr... |
ORPHA:90322 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Short sta... |
OMIM:600373 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... |
ORPHA:59315 |
| Papa Syndrome |
|
Skin ulcer, Crohn's disease, Lymphadenopathy |
ORPHA:69126 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... |
ORPHA:79303 |
| Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Midline central nervous system lipomas, Patellar hypoplasia, Wide mouth, Talipe... |
ORPHA:1827 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconv... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconv... |
ORPHA:99228 |
| Monosomy X |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconv... |
ORPHA:99226 |
| Turner Syndrome |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconv... |
ORPHA:881 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Thin long bone diaphyses, Pers... |
ORPHA:93325 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
| Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Erythema, Skin ulcer, Weight loss |
ORPHA:767 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Narrow mouth |
OMIM:245552 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Long p... |
OMIM:617895 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Congenital hip dislocation, Osteopathia stri... |
OMIM:305600 |
| Atypical Werner Syndrome |
|
Micrognathia, Abnormal hair whorl, Premature graying of hair, Finger clinodactyly, Short palm, He... |
ORPHA:79474 |
| Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
| Netherton Syndrome |
|
Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosino... |
OMIM:256500 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Narrow greater sciatic notch, Capillary hemangioma, Short phalanx of fing... |
ORPHA:508533 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation, Skin ulcer |
ORPHA:1117 |
| Giant Cell Arteritis |
|
Alopecia, Mediastinal lymphadenopathy, Skin ulcer, Weight loss, Gastrointestinal infarctions, Glo... |
ORPHA:397 |
| Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, Radial bowing, Club-shaped pro... |
OMIM:108720 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,... |
ORPHA:77301 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Short stature, Large for gestational age, Tapered finger, Abnormality of the dentiti... |
ORPHA:261652 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Short stature, Dysphagia, Oligodontia, Hypodontia, Delayed puberty |
ORPHA:447896 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the ... |
OMIM:616362 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Syndactyly, Aplastic anemia, Short stature, Microgn... |
OMIM:223370 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Shor... |
ORPHA:1855 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Ste... |
OMIM:269200 |
| Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Downturned corners o... |
ORPHA:199 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Alopecia, Short stature, Micronodular cirrhosis, Obesity, Abnormal granulocyte morp... |
ORPHA:98907 |
| Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Skin ulcer, Gastroesophag... |
ORPHA:779 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Erythematous oral mucosa, Furrowed tongue, Melena, Coarse hair, Nail dyst... |
OMIM:158310 |
| Bloom Syndrome |
|
Micrognathia, Paronychia, Gastroesophageal reflux, Stomach cancer, Hypopigmentation of the skin, ... |
ORPHA:125 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Micrognathia, Long eyelashes, Dysphagia, Volvulus |
OMIM:617802 |
| Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Erythema, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhos... |
OMIM:609313 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Blotching pigmentation of the ski... |
OMIM:601559 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Premature loss of primary teet... |
ORPHA:667 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Anteriorly... |
OMIM:211380 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail |
OMIM:601319 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Postnatal growth retardation, Anterior pituitary hypoplasia |
ORPHA:453533 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Arachnodactyly, Dysphagia, Delayed menarche, Pancreatitis, Adducted thumb |
ORPHA:412057 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Skin ulcer, Purpura |
ORPHA:743 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Micrognathia, Hypoplasia... |
OMIM:601812 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th f... |
ORPHA:2636 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ... |
ORPHA:3453 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Thin nail, Small for gestational age, Dental crowding, Delayed eruption of primary... |
OMIM:617799 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... |
ORPHA:79319 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Alopecia, Increased mean platelet volume |
OMIM:617443 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
| Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
| Wrinkly Skin Syndrome |
|
Microretrognathia, Smooth philtrum, Delayed eruption of teeth, Congenital hip dislocation, Short ... |
OMIM:278250 |
| Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Intestinal m... |
OMIM:601707 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Gastroesophageal... |
OMIM:300373 |
| Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Chylomicron Retention Disease |
|
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... |
OMIM:246700 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... |
ORPHA:93357 |
| Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Alopecia, Oral ulcer, Lymphadenopathy, Leukopenia, Mic... |
ORPHA:93552 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Short stature, Postnatal growth retardatio... |
ORPHA:2834 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thromb... |
ORPHA:227982 |
| Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely s... |
ORPHA:411511 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo... |
OMIM:160980 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Talipes equinovarus, Anal atresia |
OMIM:601389 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... |
ORPHA:177907 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:619269 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Conical tooth, Prominent interphalangeal joints, High palate, Short philtrum, Prominent... |
OMIM:135900 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xer... |
ORPHA:227990 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Alopecia, Generalized lymphadenopathy, T... |
ORPHA:50918 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Pigmentary retinopathy, Postaxial polydactyly |
OMIM:605231 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, Forearm undergrow... |
OMIM:251230 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism, Gingival bleeding, Skin ulcer |
ORPHA:352723 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Gastrointestinal atresia, He... |
ORPHA:436252 |
| Adnp Syndrome |
|
Oral-pharyngeal dysphagia, Abnormal finger morphology, Gastroesophageal reflux, Advanced eruption... |
ORPHA:404448 |
| Pyoderma Gangrenosum |
|
Skin vesicle, Myeloid leukemia, Skin ulcer, Inflammation of the large intestine |
ORPHA:48104 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, S... |
OMIM:280000 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Short stature, Patchy alopecia, Broad distal phalanx of finger, Long ph... |
OMIM:617763 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm ... |
ORPHA:424016 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Pituitary adenoma, Primary hyperparathyroidism, Increased body weight... |
ORPHA:189427 |
| Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Short palm, H... |
OMIM:176270 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, ... |
OMIM:247200 |
| Martsolf Syndrome 1 |
|
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... |
OMIM:212720 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, High palate, Neutropenia, Lymphopenia, Reduced... |
OMIM:619752 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Postnatal growth retardation... |
OMIM:302960 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Periungual erythema, Death in childhood, Neonatal death, Scaling skin, Dystrophic finge... |
OMIM:308205 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Hypermelanotic macule, Delayed eruption of primary teeth, Ab... |
ORPHA:90321 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Cleft palate, Accessory oral frenulum |
ORPHA:79113 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Acroosteolysis of distal phalanges (feet), Micrognathia, Splenomegaly, Pancreatitis... |
ORPHA:280365 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Hip dysplasia, Abnormal tongue morphology, Polydactyly |
ORPHA:531151 |
| Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Micrognath... |
ORPHA:37553 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... |
ORPHA:1225 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem... |
OMIM:600920 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Aphthous ulcer, Esop... |
OMIM:615688 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Gastroesophageal reflux, Advanced eruption of teeth, F... |
ORPHA:818 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Preaxial hand polydactyly, Deep philtrum, Esophageal atresia, Cleft ... |
OMIM:610536 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Severe B lymphocytopenia, Failure to thrive, Alopecia totalis, Decreased response to gr... |
ORPHA:293978 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Absent r... |
ORPHA:233 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
| Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Cleft palate,... |
ORPHA:261344 |
| Localized Scleroderma |
|
Abnormal skin adnexa morphology, Abnormality of the dentition, Erythema, Dental malocclusion, Hyp... |
ORPHA:90289 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Short stature, Down-sloping shoulders, Mic... |
ORPHA:1974 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:98795 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Micrognathia, Retrognathia, Dysphagia |
ORPHA:163961 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss |
ORPHA:312 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Short stature, Dental crowding,... |
OMIM:300990 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Paronychia, Hypogeusia, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Gas... |
OMIM:201300 |
| Acute Radiation Syndrome |
|
Hyperpigmentation of the skin, Skin ulcer, Granulocytopenia, Scaling skin, Lymphopenia, Hypopigme... |
ORPHA:454831 |
| Distal Deletion 19P |
|
Long toe, Alopecia, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Thic... |
ORPHA:96129 |
| Brittle Cornea Syndrome 1 |
|
Red hair, Congenital hip dislocation, Dentinogenesis imperfecta, Palmoplantar cutis laxa |
OMIM:229200 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal de... |
ORPHA:568 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Bilateral cryptorchidism, Fine... |
OMIM:613451 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Short stature, Decreased res... |
ORPHA:79444 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Synophrys, Protein-losing enteropathy |
OMIM:618154 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... |
OMIM:608670 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Short stature, Persistence of primary... |
ORPHA:97360 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Abnormality of the dentition, Preaxial hand polydacty... |
ORPHA:261318 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... |
ORPHA:90362 |
| Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Hyperconvex fingernails, Downturned corners of mouth, Gastroesopha... |
OMIM:194190 |
| Icf Syndrome |
|
Macroglossia, Abnormality of chromosome stability, Malabsorption, Protruding tongue |
ORPHA:2268 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Alopecia totalis, Normochromic anemia, Cholelithiasis, Thrombocytopeni... |
OMIM:618775 |
| Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Alopecia, Short stature, Hypermelanotic macule, Abnormality of the den... |
ORPHA:910 |
| Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
| Meningioma |
|
Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat... |
ORPHA:2495 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Gastroesophageal reflux, Skin ulcer |
ORPHA:36386 |
| Bare Lymphocyte Syndrome, Type I |
|
Chronic sinusitis, Skin ulcer |
OMIM:604571 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Micrognathia, Aplasia/h... |
ORPHA:96176 |
| Vacterl/Vater Association |
|
Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Tracheoesophageal fistula, C... |
ORPHA:887 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Cheilitis, Alopecia universalis |
OMIM:619208 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duodena... |
ORPHA:2547 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Erythema, Tracheoesophageal f... |
ORPHA:537 |
| Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Single transverse palmar crease, Coxa valga, Thick lo... |
OMIM:619297 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Gastroesophageal reflux, Sparse hair, ... |
OMIM:620186 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the radius, Preaxial po... |
OMIM:192350 |
| Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
| Chylomicron Retention Disease |
|
Acanthocytosis, Increased hepatocellular lipid droplets, Growth delay, Steatorrhea, Fat malabsorp... |
ORPHA:71 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Small for gestational age, Short thumb, An... |
ORPHA:1708 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Short stature, Tapered finger, Splenomegaly, Micronodula... |
OMIM:301072 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... |
ORPHA:30391 |
| Leprosy |
|
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Testicular mass, Abnormal... |
ORPHA:548 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, ... |
ORPHA:666 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Gingival fibromatosis, Narrow palate, Pigmentary retino... |
OMIM:266270 |
| Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, High palate, Dislocated radial head, 2-4 finger synda... |
OMIM:617063 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Sparse eyelashes, Short nail, Rocker bottom foot, Congenital pseudoarthrosis of the ... |
OMIM:275210 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... |
ORPHA:3103 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Failure to thrive, Abnormal dental morphology, Micrognathia, High, nar... |
ORPHA:369950 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Toe syndactyly, Short stature, Ocular albinism, Hypopigmented skin patc... |
ORPHA:999 |
| Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma |
ORPHA:314478 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Absent eyebrow, Alopecia, Abnormal... |
ORPHA:2273 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Micrognathia, Synophrys, Low anterior hairline, Premature graying of h... |
OMIM:619488 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Abnormality of body weight, Enlarged polycystic ovaries, Thrombocytop... |
ORPHA:2298 |
| Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Skin ulcer, Gingivitis, Rectal abscess, Periodontitis |
OMIM:116920 |
| Vici Syndrome |
|
Albinism, Micrognathia, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, N... |
OMIM:242840 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... |
ORPHA:2879 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Bone spicule pigmentation of the retina, Dental crowding, Aganglionic megacolon, Post... |
OMIM:209900 |
| Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Small for gestational age, Imbalanced hemoglobin synthesi... |
ORPHA:330015 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Avascular necrosis... |
OMIM:619377 |
| Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proport... |
OMIM:619510 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Redundant neck skin, Overlapping toe, Gingival overgrowth, Narrow palate, Anteriorly... |
OMIM:123790 |
| Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Absent radius, Micrognathia... |
OMIM:115470 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Villous atrophy, Pancreatic fibrosis, Failure to thrive, Smal... |
OMIM:557000 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Micrognathia, Persistence of primary teeth, Thrombocyt... |
ORPHA:2785 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protrudin... |
ORPHA:50945 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx... |
OMIM:143095 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Carious teeth, ... |
ORPHA:2769 |
| Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Absent uvu... |
OMIM:600383 |
| Classic Phenylketonuria |
|
Growth delay, Hypopigmentation of hair, Hypopigmentation of the skin, Lack of skin elasticity |
ORPHA:79254 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Alopecia, Erythema, Skin ulcer, Weight loss, Dysphagia, Dry skin |
ORPHA:93672 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perman... |
OMIM:616894 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,... |
OMIM:300968 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, High palate, Dystrophic fingernails, Absen... |
ORPHA:740 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, He... |
ORPHA:79259 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Petechiae, Microcytic anemia, Hemate... |
ORPHA:906 |
| Cushing Disease |
|
Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Hyperpigmentation of the skin, Pituitar... |
ORPHA:96253 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Short stature, Cortical subperiosteal resorption of humeral metaphyses... |
ORPHA:94089 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neu... |
ORPHA:51636 |
| Leigh Syndrome |
|
Alopecia, Gastrointestinal dysmotility, Dysphagia, Growth delay, Neutropenia, Intrauterine growth... |
ORPHA:506 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Early ossification of capital femoral epiphyses, Cone-s... |
OMIM:208500 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Prote... |
ORPHA:731 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Failure to thrive, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fi... |
ORPHA:79404 |
| Joubert Syndrome 37 |
|
High palate, Postaxial polydactyly |
OMIM:619185 |
| Meckel Syndrome, Type 1 |
|
Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepat... |
OMIM:249000 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Abnormal dental enamel m... |
ORPHA:79430 |
| Malakoplakia |
|
Follicular hyperplasia, Orchitis, Abnormality of the tongue, Skin ulcer, Neoplasm of the rectum, ... |
ORPHA:556 |
| Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... |
OMIM:601358 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely s... |
ORPHA:98794 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
| Culler-Jones Syndrome |
|
Cleft palate, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
| Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
| Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Gastroesophageal reflux, Advanced eruption... |
ORPHA:828 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
| Familial Multiple Nevi Flammei |
|
Irregular hyperpigmentation, Hypermelanotic macule, Skin ulcer |
ORPHA:624 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Sinusitis, Peritonitis, Erythema, Skin ulcer, Gastrointestinal infar... |
ORPHA:727 |
| Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Cleft palate, Cleft upper lip |
ORPHA:33001 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Short stature, Decreased res... |
ORPHA:79443 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix,... |
ORPHA:2072 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Dental crow... |
OMIM:219000 |
| Fusariosis |
|
Sinusitis, Abnormality of the spleen, Paronychia, Peritonitis, Skin ulcer, Abnormality of the liv... |
ORPHA:228119 |
| Livedoid Vasculopathy |
|
Pancytopenia, Hyperpigmentation of the skin, Leukocytosis, Hyperpigmented streaks, Skin ulcer, Ma... |
ORPHA:542643 |
| Catastrophic Antiphospholipid Syndrome |
|
Miscarriage, Skin ulcer, Coombs-positive hemolytic anemia, Gastrointestinal infarctions, Microang... |
ORPHA:464343 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption |
ORPHA:79302 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Hypopigmentation of hair, Cryptorchidism, Xerostomia, Obesity, Small ha... |
ORPHA:398079 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, High palate, Sho... |
ORPHA:798 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Pancytopenia, Esophageal stricture, Erythema, Xerostomia, Skin ulcer, Weight loss, Abno... |
ORPHA:99921 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly |
ORPHA:314655 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Inguinal freckling, Abnormal tibia morphology, Schwannoma, Axillary freckling, Ossifying fibroma,... |
ORPHA:363700 |
| Revesz Syndrome |
|
Abnormality of chromosome stability, Fine, reticulate skin pigmentation, Oral leukoplakia |
OMIM:268130 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Short stature, Arachnodactyly, Abnormal thumb morphology, Cryptorchidis... |
ORPHA:2719 |
| Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, High anterior h... |
OMIM:182250 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Hypoplasia... |
OMIM:614099 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Severe short stature, Abnormal eyelash morphol... |
ORPHA:2526 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, High, narrow palate, Papillary cystadenoma of t... |
OMIM:180849 |
| Braddock Syndrome |
|
Preaxial hand polydactyly |
ORPHA:52047 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Alopecia, Anomaly of lower limb diaphyses, Small for gestational ag... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Alopecia, Anomaly of lower limb diaphyses, Small for gestational ag... |
ORPHA:363958 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Esophageal varix, Hip dysplasia, Inflammation of the lar... |
OMIM:614576 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Abnormality of retinal pigmentation, B... |
OMIM:272460 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of ... |
OMIM:300166 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardation, Pig... |
ORPHA:96180 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Redundant skin, Tapered finger, Cryptorchidism, Abno... |
ORPHA:2953 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
| Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Bowing of the long bones, Metatarsus adductus, Flared metaphysis, Gingi... |
OMIM:249420 |
| Greenberg Dysplasia |
|
Micromelia, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death, Short phalanx of finger... |
OMIM:215140 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... |
OMIM:209920 |
| Trisomy 8P |
|
Short fourth metatarsal, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5th finger, H... |
ORPHA:264450 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... |
OMIM:214950 |
| Joubert Syndrome 14 |
|
Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Short philtrum, Open mouth |
OMIM:614424 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Abnormal finger morphology, D... |
ORPHA:79500 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Short stature, Decreased response to growth hormone stimulation test, A... |
ORPHA:98754 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Cryptorchidism, Xerostomia, In... |
ORPHA:398069 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Abnormality of hair pigmentation, Cl... |
ORPHA:90354 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Decreased response to growth h... |
ORPHA:177901 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Spotty hypopigmentation, Polydac... |
OMIM:300960 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... |
ORPHA:521445 |
| Calciphylaxis |
|
Skin ulcer, Secondary hyperparathyroidism |
ORPHA:280062 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Aicardi Syndrome |
|
Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Cleft palate, Carcinoma, Teratoma, L... |
OMIM:304050 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... |
OMIM:617088 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Syndactyly, Short stature, B... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Syndactyly, Short stature, B... |
ORPHA:353277 |
| Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Postaxial hand polydactyly, Narrow palate, Cleft palate, Downturned corner... |
OMIM:605627 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
| Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... |
ORPHA:2473 |
| Cockayne Syndrome |
|
Dry hair, Gastroesophageal reflux, Hepatomegaly, Abnormal dental morphology, Cryptorchidism, Agen... |
ORPHA:191 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Short stature, Decreased response to growth hormone stimulation test, A... |
ORPHA:98793 |
| Biotinidase Deficiency |
|
Splenomegaly, Alopecia, Hepatomegaly |
OMIM:253260 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Decreased response to growth hormone stimulation test, A... |
ORPHA:739 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Hyperpigmented streaks, Ant... |
OMIM:601803 |
| Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia... |
OMIM:114290 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Micrognathia, Asplenia, Esophageal atresia, Cleft lip, Pulmonary lymphang... |
OMIM:265380 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Bowing of the long bones, Tarsal synostosi... |
ORPHA:565 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Gastroesophageal reflux, Short stature, Broad hallux, Pilomatrixoma, Cryptorchid... |
ORPHA:353281 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Short stature, Decreased response to growth hormone stimulation test, A... |
ORPHA:177904 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad... |
OMIM:619472 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Downturned corners of mouth, Sh... |
ORPHA:3455 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, Short stature, Sparse axillary hair, Sparse pubic hair,... |
OMIM:181270 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd... |
OMIM:301022 |
| Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
| Adrenoleukodystrophy |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:300100 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Short stature, Micrognathia, Cryptorchidism, Widow's peak, Cleft l... |
ORPHA:2745 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Bowing of the long bones, Functional intestinal obstructio... |
ORPHA:199276 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Short stature, Malabsorption, Abnormal sacroiliac joint morphology, Co... |
ORPHA:289176 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... |
OMIM:617527 |
| Meige Disease |
|
Lymph node hypoplasia, Skin ulcer, Absence of lymph node germinal center |
ORPHA:90186 |
| Serkal Syndrome |
|
Growth delay, Malrotation of small bowel, Orofacial cleft |
ORPHA:139466 |
| Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, Abnormality of the splee... |
ORPHA:1666 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Aganglionic megacolon, Splen... |
ORPHA:163746 |
| Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Gastroesophageal reflux, Short ph... |
ORPHA:2044 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Growth delay, Scal... |
ORPHA:3464 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Oral ulcer, Skin ulcer, Weight loss, Granulomatosis |
OMIM:608710 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short metatarsal, Widely spaced teeth, High palate, Clinodactyly of the 5th finger, Microdontia, ... |
OMIM:266920 |
| Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration, Osteolytic defects of the phalanges of the hand |
OMIM:613115 |
| Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... |
ORPHA:167 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Short stature, Hyperpigmentation of the skin, Testicular adrenal rest tumor, Polycystic... |
ORPHA:90795 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Arachnodactyly, Abnormality of the philtrum, Short hallux, Cleft upper l... |
ORPHA:280 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Alg9-Cdg |
|
Villous atrophy, Micrognathia, Gastroesophageal reflux, Narrow greater sciatic notch, Bifid uvula... |
ORPHA:79328 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
| Down Syndrome |
|
Short palm, Redundant neck skin, Aganglionic megacolon, Short stature, Sandal gap, Protruding ton... |
OMIM:190685 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Failure to thrive, Hyperpigmented streaks, Thyroid C cell hype... |
OMIM:300952 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Cleft palate, Downturned... |
OMIM:616580 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Short nail, Deep philtrum, High palate, Long eye... |
ORPHA:1675 |
| Restrictive Dermopathy |
|
Natal tooth, Short nail, Camptodactyly of finger, Micrognathia, Sparse eyebrow, Aplasia/Hypoplast... |
ORPHA:1662 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated medi... |
OMIM:312870 |
| Pallister-Hall Syndrome |
|
Large for gestational age, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial pol... |
ORPHA:672 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
OMIM:253270 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Anal stenosis, Congenital hip dislocation, Hip cont... |
OMIM:606170 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Clinodactyly of the 5th finger, Preaxial hand polydactyly, Miscarriage |
ORPHA:96179 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Oral ulcer, Cheilitis, Lymphadenopathy, Abnormal pigmentation of the ... |
ORPHA:536 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Abnormality of the hand, Preaxial hand p... |
ORPHA:508498 |
| Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Erythema, ... |
ORPHA:221 |
| Retinitis Pigmentosa 74 |
|
Pigmentary retinopathy, Polydactyly |
OMIM:616562 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Melanocytic nevus, Growth delay, Adenoma sebaceum, Irregular hyperpigmentation |
ORPHA:2612 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Short stature, Broad hallux, Den... |
OMIM:614188 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Micrognathia, Biliary hyperplasia, Leukopenia, Protein-losing entero... |
OMIM:619991 |
| Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Highly arched eyebrow, Cryptorchidism, Widow's peak, Short toe, Orofacial clef... |
ORPHA:1519 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Abnormal periodontium morphology, Neoplasm, High palate, Tapered fing... |
ORPHA:480880 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp... |
ORPHA:363618 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration, Tongue fasciculations |
OMIM:162400 |
| Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... |
ORPHA:276152 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Failure to thrive |
OMIM:210210 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hypoplasia of t... |
OMIM:200995 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Cleft palate, Broad philtrum, Fused teeth, Po... |
OMIM:613610 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Irregular hyperpigmentation, Dry skin, Abnormality of t... |
ORPHA:428 |
| Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Redundant skin, High, narrow palate, Abnormality of the gingiva, Ging... |
ORPHA:286 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi... |
ORPHA:567983 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Blau Syndrome |
|
Hyperpigmentation of the skin, Camptodactyly of finger, Splenomegaly, Erythema, Xerostomia, Skin ... |
ORPHA:90340 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Long philtrum, Broad thumb |
ORPHA:2211 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Sinusitis, Skin ulcer, Weight loss, Granulom... |
ORPHA:900 |
| Charge Syndrome |
|
Delayed eruption of teeth, Short stature, Highly arched eyebrow, Cleft upper lip, Abnormal soft p... |
ORPHA:138 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Scedosporiosis |
|
Sinusitis, Abnormal jejunum morphology |
ORPHA:449280 |
| Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Purpura, Chronic active hepatitis, Thrombocytopenia, Xerostomia, Biliary cirrh... |
ORPHA:289390 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Breast a... |
ORPHA:2036 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Alopecia, Linear hyperpigmentation |
OMIM:613001 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Tracheobronchial leiomyomatosis, Esophageal stenosis, Diffuse leiomyomatosis, Vaginal neoplasm, V... |
ORPHA:1018 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Sinusitis, Short stature, Severe periodontitis, Abnormality of the dentit... |
ORPHA:2968 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leuke... |
ORPHA:3243 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Micrognathia, Cryptorchidism, Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o... |
OMIM:236680 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... |
ORPHA:352665 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Metatarsal syno... |
OMIM:107480 |
| Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly |
OMIM:603387 |
| Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hemolytic anemia, Alopecia, Hepatomegaly, Parotitis, E... |
ORPHA:797 |
| Relapsing Polychondritis |
|
Alopecia, Erythema, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis, Purpura |
ORPHA:728 |
| Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum |
OMIM:612731 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg shortening, Proximal femora... |
ORPHA:397715 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus herni... |
OMIM:601776 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Sinusitis, Gastritis, Hematemesis, Mediastinal lymphadenopathy, Peri... |
ORPHA:73263 |
| Plague |
|
Hepatomegaly, Chapped lip, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Skin ulcer, E... |
ORPHA:707 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Fine hair, Sparse hair, Decreased testicular size, Anodontia |
OMIM:241080 |
| Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
| Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
| Familial Keratoacanthoma |
|
Adenoma sebaceum, Skin ulcer |
ORPHA:493 |
| Meckel Syndrome |
|
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Postaxial ... |
ORPHA:564 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Hyperpigmentation of the skin, Trichiasis, Oral-pharyngeal dysphagia, Intestinal perforation, Ora... |
ORPHA:95455 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Small nail, Brachy... |
OMIM:100300 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Fibroma, Parathyro... |
ORPHA:99880 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Villous atrophy, Short stature, Autoimmune thrombocytopenia, Esophag... |
ORPHA:391487 |
| Colchicine Poisoning |
|
Leukocytosis, Alopecia |
ORPHA:31824 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Midface capilla... |
OMIM:218600 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Short stature, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice, ... |
OMIM:256810 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Fibroma, Uterine l... |
ORPHA:143 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Oral-pharyng... |
OMIM:219800 |
| Steinert Myotonic Dystrophy |
|
Alopecia, Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth... |
ORPHA:273 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... |
ORPHA:512 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... |
OMIM:619381 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Orchitis, Erythema, Skin ulcer, Gastrointestinal infarctions, Purpura |
ORPHA:761 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Weight l... |
ORPHA:91139 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Gastrointestinal dysmotility... |
ORPHA:2152 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Acral ulceration, Nail dystrophy, Nail dysplasia |
OMIM:256800 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Abnormality of retinal pigmentation, Acanthocytosis, Hepatic fibro... |
ORPHA:14 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh... |
ORPHA:261537 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Pyloric stenosis, Polydactyly, Acromesomelia, Clin... |
ORPHA:464306 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth... |
ORPHA:2250 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Metaphyseal wi... |
ORPHA:99646 |
| Sympathetic Ophthalmia |
|
Vitiligo, Alopecia, Erythema, Poliosis |
ORPHA:79098 |
| Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postax... |
ORPHA:93271 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Severe short stature, Redundant skin, Pyloric stenosis, Hip dislocation, Lack of skin elasticity,... |
ORPHA:90349 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of taste sensation, Sinusitis, Increased red blood cell count, Skin ulcer |
ORPHA:68 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly, Orofacial cleft |
ORPHA:17 |
| Autosomal Dominant Cutis Laxa |
|
Dermal translucency, Redundant neck skin, Redundant skin, Postnatal growth retardation, Hip dislo... |
ORPHA:90348 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy, Penetrating foot ulcers |
ORPHA:99956 |
| Khan-Khan-Katsanis Syndrome |
|
Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Pigmentary retinopathy, Clin... |
OMIM:618460 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Craniofacial hyperostosis, Alopecia |
ORPHA:2396 |
| Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Malrotation of col... |
OMIM:113620 |
| Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Scaling skin, Skin ulcer, Abnormal lymphatic vessel morph... |
ORPHA:90307 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger, Open mouth |
ORPHA:457284 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh... |
ORPHA:261552 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Thin vermilion border, High palate, Polydactyly |
OMIM:619869 |
| Behcet Syndrome |
|
Erythema, Patchy alopecia, Oral ulcer |
OMIM:109650 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe... |
ORPHA:268261 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Rectoperineal fistula, Preaxial hand polydactyly, Partial d... |
ORPHA:857 |
| African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Miscarriage, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormal prolact... |
ORPHA:3385 |
| Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... |
OMIM:155310 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Short stature, Supernumerary nipple, Cryptorchi... |
OMIM:235730 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration... |
OMIM:610168 |
| Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Patchy alopecia, Pheochromocytoma, Melanocytic nevus |
ORPHA:2874 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
| Sotos Syndrome |
|
Hip contracture, Aganglionic megacolon, Abnormality of the dentition, Sparse anterior scalp hair,... |
ORPHA:821 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
| Blau Syndrome |
|
Flexion contracture of toe, Camptodactyly of finger, Skin ulcer |
OMIM:186580 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology, Median cleft lip and palate |
ORPHA:95494 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Postaxial polydactyly, Broad first metatarsal, Esophageal varix, Polydactyly, Everted... |
OMIM:619534 |
| Split Cord Malformation |
|
Tufted hairs, Penetrating foot ulcers, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:573278 |
