Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Single ... |
OMIM:227270 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... |
OMIM:206920 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Broad nasal tip, Cl... |
ORPHA:166016 |
Lethal Faciocardiomelic Dysplasia |
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Microretrognathia, Hypoplasia of the ulna, Sandal gap, Bilateral single transverse palmar creases... |
ORPHA:1972 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
17Q21.31 Microduplication Syndrome |
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Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Microcephaly, Abnormality of the dent... |
ORPHA:217340 |
Leri-Weill Dyschondrosteosis |
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Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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11 pairs of ribs, Absent forearm, Overlapping toe, Short stature, Single transverse palmar crease... |
OMIM:201170 |
Seckel Syndrome 1 |
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Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Selective tooth ag... |
OMIM:210600 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Ritscher-Schinzel Syndrome 3 |
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Relative macrocephaly, Hypoplasia of the ulna, Death in infancy, Cerebellar vermis hypoplasia, An... |
OMIM:619135 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Hepatorenocardiac Degenerative Fibrosis |
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Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Langer Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Cerebrooculofacioskeletal Syndrome 3 |
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Rocker bottom foot, Micrognathia, Microcephaly, Cleft palate, Arthrogryposis multiplex congenita,... |
OMIM:616570 |
Mental Retardation Syndrome, Mietens-Weber Type |
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Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... |
OMIM:249600 |
Acrodysostosis |
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Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Orofacial Cleft 11 |
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Cleft lip, Cleft palate |
OMIM:600625 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Fibular hypoplasi... |
OMIM:612447 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Mandibular prognathia, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Distal lower li... |
OMIM:300354 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
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Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Decreased body weight, Micrognathia,... |
OMIM:615162 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
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Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Decreased body weight, Micrognathia,... |
ORPHA:357175 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Omodysplasia 2 |
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Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat... |
OMIM:164745 |
Microphthalmia With Limb Anomalies |
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Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Bowen-Conradi Syndrome |
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Death in infancy, Short stature, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Promi... |
ORPHA:1270 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Fibrochondrogenesis 1 |
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Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... |
OMIM:228520 |
Angioedema, Hereditary, 6 |
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Facial edema, Angioedema, Edema of the dorsum of hands, Swollen lip |
OMIM:619363 |
Saul-Wilson Syndrome |
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Enlarged epiphyses, Micrognathia, Short metatarsal, Overtubulated long bones, Short metacarpal, P... |
OMIM:618150 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... |
OMIM:164900 |
Coffin-Siris Syndrome 3 |
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Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Microcephaly, Central diaphra... |
OMIM:614608 |
Coffin-Siris Syndrome 2 |
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High palate, Short philtrum, Dandy-Walker malformation, Depressed nasal bridge, Anteverted nares,... |
OMIM:614607 |
Van Bogaert-Hozay Syndrome |
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Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth malp... |
OMIM:277150 |
Intellectual Developmental Disorder, X-Linked 91 |
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Macrodontia, Small hand, Obesity, Short foot, Short 5th finger, High palate, Cubitus valgus, Clin... |
OMIM:300577 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Fetal Cytomegalovirus Syndrome |
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Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
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Delayed eruption of teeth, Relative macrocephaly, Anteverted nares, Dental crowding, Ataxia, Inab... |
OMIM:616354 |
Bullous Dystrophy, Hereditary Macular Type |
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Severe short stature, Tapered finger, Microcephaly, Short finger, Death in childhood, Acrocyanosis |
OMIM:302000 |
Fibular Hemimelia |
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Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... |
ORPHA:93323 |
Eiken Syndrome |
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Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short stature, Abnor... |
ORPHA:79106 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ... |
OMIM:171480 |
Lethal Recessive Chondrodysplasia |
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Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o... |
OMIM:600002 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Long philtrum, Short nose... |
ORPHA:1389 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Orofaciodigital Syndrome Type 10 |
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Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Mietens Syndrome |
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Hypoplasia of the ulna, Wide nose, Severe short stature, Talipes, Coxa valga, Metatarsus adductus... |
ORPHA:2557 |
Cofs Syndrome |
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Death in infancy, Cerebral calcification, Short stature, Camptodactyly of finger, Talipes, Microg... |
ORPHA:1466 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
Mcdonough Syndrome |
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Mandibular prognathia, Short stature, Cachexia, Underdeveloped nasal alae, Micrognathia, Prominen... |
ORPHA:2471 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
Nephronophthisis 16 |
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Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Inability to walk, Flexion contracture,... |
OMIM:613155 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Hypoplasia of the ulna, Broad hallux, Talipes, Disproportionate short stature, Short metatarsal, ... |
ORPHA:1856 |
Brachydactyly Type A1 |
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Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... |
ORPHA:93388 |
Langer Mesomelic Dysplasia |
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Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
Acrofacial Dysostosis, RodrÃguez Type |
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Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... |
ORPHA:1788 |
Spondyloperipheral Dysplasia |
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Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Renpenning Syndrome |
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Mandibular prognathia, Skeletal muscle atrophy, Severe short stature, Macrodontia, Cachexia, Prom... |
ORPHA:3242 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat... |
OMIM:602471 |
Syngnathia |
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Cleft palate |
OMIM:119550 |
Gombo Syndrome |
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Microcephaly, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachyda... |
OMIM:233270 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
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Smooth philtrum, Hip contracture, Thin upper lip vermilion, Anteverted nares, Prominent nasal bri... |
OMIM:616801 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
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Delayed eruption of teeth, Relative macrocephaly, Increased body mass index, Congenital hip dislo... |
OMIM:614450 |
Christianson Syndrome |
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Mandibular prognathia, Death in early adulthood, Decreased muscle mass, Cachexia, Abnormality of ... |
ORPHA:85278 |
Alpha-Mannosidosis |
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Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg... |
ORPHA:61 |
Pierpont Syndrome |
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Widely spaced teeth, Short palm, Prominent fingertip pads, Prominent subcalcaneal fat pad, Short ... |
OMIM:602342 |
Fryns-Smeets-Thiry Syndrome |
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Narrow nasal bridge, Arachnodactyly, Prominent nasal bridge, Short stature, Micrognathia, Microce... |
ORPHA:2058 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Mesomelic Limb Shortening And Bowing |
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Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Dysostosis, Stanescu Type |
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Narrow nasal bridge, Bowing of the long bones, Cerebral calcification, Short stature, Abnormal de... |
ORPHA:1798 |
Shox-Related Short Stature |
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Short stature, Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing,... |
ORPHA:314795 |
Anauxetic Dysplasia 2 |
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Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Coxa... |
OMIM:617396 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... |
OMIM:619644 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
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Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Convex nasal ridge |
OMIM:218650 |
Non-Distal Duplication 10Q |
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Depressed nasal bridge, Short stature, Micrognathia, Microcephaly, High palate, Everted lower lip... |
ORPHA:1695 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Kinsship Syndrome |
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Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corners of mouth... |
OMIM:619297 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal... |
ORPHA:1352 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... |
ORPHA:2256 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
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Tented upper lip vermilion, Micrognathia, Knee flexion contracture, Short philtrum, Anteverted na... |
ORPHA:371364 |
W Syndrome |
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Hypoplasia of the ulna, Pes planus, Radial bowing, Depressed nasal bridge, Broad uvula, Broad nas... |
ORPHA:2804 |
Cenani-Lenz Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Isolated Congenital Hypoglossia/Aglossia |
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Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Wei... |
ORPHA:141152 |
Neuropathy, Congenital Hypomyelinating, 3 |
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Limb joint contracture, Cachexia, Micrognathia, Microcephaly, Abnormal foot morphology, Flexion c... |
OMIM:618186 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm... |
ORPHA:1277 |
Mmep Syndrome |
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Mandibular prognathia, Median cleft lip, Microcephaly, Orofacial cleft, Split foot, Triphalangeal... |
ORPHA:3434 |
Lethal Osteosclerotic Bone Dysplasia |
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Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Gingival fibromatosis, Gingi... |
ORPHA:1832 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Short s... |
OMIM:614078 |
Acro-Renal-Mandibular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
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Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Metatars... |
ORPHA:2249 |
Ring Chromosome 10 Syndrome |
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Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger, Micrognathia, Wide nasal bridge, Thi... |
ORPHA:1438 |
Atelosteogenesis, Type I |
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Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... |
OMIM:108720 |
Vitamin K Antagonist Embryofetopathy |
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Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Epiphysea... |
ORPHA:1914 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short stature, Abnormality of the hand... |
ORPHA:369891 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Hypoplasia of the maxilla, Short middle phalanx of the 2nd ... |
OMIM:156510 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys... |
ORPHA:464329 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... |
OMIM:602418 |
Mulibrey Nanism |
|
Short stature, Cachexia, Wide nasal bridge, Macrocephaly, Intrauterine growth retardation |
ORPHA:2576 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Short stature, Camptodactyly of finger, Talipes, Micrognathia, Microcephaly, Gr... |
ORPHA:1495 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of corpus callosum, Hypoplas... |
OMIM:613091 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Ataxia, Diastema, Wide nasal bridge, Cerebral atrophy, Gingival overgro... |
OMIM:618729 |
Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Wide nasal bridge, Downturned co... |
ORPHA:2774 |
Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Neck joint contracture, Inability to walk, Flexion co... |
ORPHA:209951 |
Megaepiphyseal Dwarfism |
|
Severe short stature, Short stature, Cleft palate |
OMIM:249230 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel... |
ORPHA:166002 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synos... |
OMIM:251230 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Broad toe, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Tented upper l... |
OMIM:616900 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Pierpont Syndrome |
|
Widely spaced teeth, Prominent fingertip pads, Short toe, Abnormality of the plantar skin of foot... |
ORPHA:487825 |
Seckel Syndrome 2 |
|
Short stature, Small for gestational age, Micrognathia, Prominent nose, Microcephaly, Microdontia... |
OMIM:606744 |
Perching Syndrome |
|
Cyanosis, Depressed nasal bridge, High palate, Camptodactyly, Joint contracture |
OMIM:617055 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Depressed nasal bridge, Short stature, Micromelia, Micrognathia... |
OMIM:241800 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Depressed nasa... |
OMIM:156200 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:3201 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal ch... |
ORPHA:163966 |
Trisomy 17P |
|
Skeletal muscle atrophy, Micrognathia, Prominent nose, Flexion contracture, Orofacial cleft, High... |
ORPHA:261290 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Broad nasal ... |
OMIM:615524 |
Intellectual Developmental Disorder, Autosomal Recessive 30 |
|
Growth delay, Macroglossia, Microcephaly |
OMIM:614342 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Micrognathia, Carious teeth, Absen... |
ORPHA:96097 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Microcephaly, Achilles tendon contractu... |
OMIM:606612 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapu... |
ORPHA:140 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Achilles tendon contracture, Elbow flexion contracture, EMG: myopath... |
OMIM:608840 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Wi... |
OMIM:617925 |
Orofaciodigital Syndrome X |
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Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre... |
OMIM:114290 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Postaxial Acrofacial Dysostosis |
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Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po... |
OMIM:263750 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... |
OMIM:277170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
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Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Inability to walk, Flexion contracture,... |
OMIM:613156 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely... |
ORPHA:363417 |
Keipert Syndrome |
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Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,... |
ORPHA:2662 |
X-Linked Intellectual Disability, Cabezas Type |
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Prominent nose, High palate, Biparietal narrowing, Short philtrum, Short palm, Clinodactyly of th... |
ORPHA:85293 |
Mesomelic Dysplasia, Savarirayan Type |
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Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Elbow... |
ORPHA:85170 |
Desbuquois Dysplasia 1 |
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Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Boomerang Dysplasia |
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Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na... |
OMIM:112310 |
Hypereosinophilic Syndrome, Idiopathic |
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Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
3M Syndrome |
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Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... |
ORPHA:2616 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Short stature, Microcephaly, Growth delay, High palate, Narrow mouth, Microphthalmia, Retrognathia |
ORPHA:2528 |
Van Den Ende-Gupta Syndrome |
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Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Robinow Syndrome, Autosomal Recessive 2 |
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Micrognathia, Prominent fingertip pads, Anteverted nares, Broad hallux, Short stature, Cleft soft... |
OMIM:618529 |
Acromicric Dysplasia |
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Short metacarpal, Severe short stature, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower... |
ORPHA:969 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Prominent n... |
OMIM:610756 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Angioosteohypotrophic Syndrome |
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Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Telangiectasia of the skin, A... |
ORPHA:75508 |
Fatty Acyl-Coa Reductase 1 Deficiency |
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Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Inability to wa... |
ORPHA:438178 |
Tetrasomy 12P |
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Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Cachexia, A... |
ORPHA:884 |
Frontonasal Dysplasia 1 |
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Pericallosal lipoma, Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxill... |
OMIM:136760 |
Microphthalmia, Syndromic 8 |
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Mandibular prognathia, Microcephaly, Cleft upper lip, Orofacial cleft, Cleft palate, Widely-space... |
OMIM:601349 |
Zimmermann-Laband Syndrome |
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Hallux valgus, Pes planus, Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival f... |
ORPHA:3473 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal syno... |
ORPHA:2639 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Postaxial Acrofacial Dysostosis |
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Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
Aa Amyloidosis |
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Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Warburg Micro Syndrome 1 |
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Cerebellar vermis hypoplasia, Overlapping toe, Anteverted nares, Short stature, Micrognathia, Mic... |
OMIM:600118 |
Osteopathia Striata With Cranial Sclerosis |
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Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... |
OMIM:300373 |
Chromosome 5Q12 Deletion Syndrome |
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Long toe, Micrognathia, Prominent nose, Long fingers, Postnatal growth retardation, Wide mouth, M... |
OMIM:615668 |
Odontochondrodysplasia |
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Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Sh... |
ORPHA:166272 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
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Failure to thrive, Tapered finger, Prominent nose, Long fingers, Microcephaly, Thick lower lip ve... |
OMIM:614407 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Short tibia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd ... |
OMIM:118651 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Deep... |
ORPHA:261120 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Micrognathia, Prominent nose, Hypoplasia of the pons, Partial agenesis of the corp... |
OMIM:616171 |
Arthrogryposis, Distal, Type 1C |
|
Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris... |
OMIM:619110 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
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Macroglossia, Severe postnatal growth retardation, Wide anterior fontanel, Depressed nasal bridge |
OMIM:275100 |
Phocomelia, Schinzel Type |
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Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligodactyly, Radi... |
ORPHA:2879 |
Mitochondrial Myopathy And Sideroblastic Anemia |
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Microcephaly, Micrognathia, Generalized limb muscle atrophy, Myopathy, High palate, Delayed puber... |
ORPHA:2598 |
Alg6-Cdg |
|
Ataxia, Jaundice, Shortening of all distal phalanges of the fingers, Macroglossia, Protein-losing... |
ORPHA:79320 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Protruding tong... |
OMIM:242860 |
Temtamy Syndrome |
|
Pes planus, Brachydactyly, Micrognathia, Short toe, Thick lower lip vermilion, Aplasia/Hypoplasia... |
ORPHA:1777 |
Cousin Syndrome |
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Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Abnormality of the nose, Hypoplasia of the pons, Metaphyseal chond... |
ORPHA:79321 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
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Short stature, Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance |
ORPHA:2349 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... |
ORPHA:1133 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Hip contracture, Severe short stature, Rhizomelia, Hypoplastic ilia, Short... |
OMIM:607095 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Short stature, Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the... |
ORPHA:85279 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Talipes equinovarus, Muscular dys... |
OMIM:616827 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, Bullet-shaped d... |
ORPHA:1617 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Peho-Like Syndrome |
|
Tapered finger, Open mouth, Retrognathia, Lissencephaly, Hypoplasia of the corpus callosum, Short... |
OMIM:617507 |
Omodysplasia 1 |
|
Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Micrognathia, Limi... |
OMIM:258315 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Cl... |
OMIM:256050 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Relative macrocephaly, Broad-based gait, Depressed nasal bridge, Dental crowding, Ataxia, Hypopla... |
ORPHA:397709 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal... |
OMIM:274000 |
Moebius Syndrome |
|
Abnormal nasopharynx morphology, Micrognathia, Congenital fibrosis of extraocular muscles, Hypopl... |
OMIM:157900 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Pes planus, Short stature, Prominent nasal bridge, Single transverse pa... |
OMIM:613544 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Ataxia, Abnormality of the dent... |
OMIM:615398 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive, Toe syndactyly, Congenital hip dislocation, Cachexia, Under... |
ORPHA:217346 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip v... |
ORPHA:2429 |
Tetrasomy 5P |
|
Pericallosal lipoma, Cyanosis, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Pos... |
ORPHA:3309 |
Braddock-Carey Syndrome 2 |
|
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clin... |
OMIM:619981 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Simplified gyral pattern, Knee flexion contracture, Short philtrum, Death in childh... |
OMIM:610758 |
Clark-Baraitser Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... |
OMIM:617752 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Downturned corners of mouth, Hypoplasia of the brainstem, Oligodontia, Short philtr... |
ORPHA:391408 |
Pseudoachondroplasia |
|
Metaphyseal widening, Delayed epiphyseal ossification, Increased laxity of ankles, Abnormal femor... |
ORPHA:750 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Achilles tendon... |
ORPHA:353 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Long philtrum, Depressed na... |
OMIM:616331 |
Zimmermann-Laband Syndrome 2 |
|
Short stature, Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Gingival overgrowth, Ma... |
OMIM:616455 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Bulbous ... |
ORPHA:261144 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Narrow mouth, Abnormal pelvic girdle bone morphology, Thin vermilion border, Hip d... |
ORPHA:2370 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Down Syndrome |
|
Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, Microdontia, ... |
ORPHA:870 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Thin vermilio... |
ORPHA:2631 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Prominent nasal bridge, Abnorm... |
ORPHA:1307 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal ridge, Encephalomalacia, Depressed nasal bridge, Short sta... |
ORPHA:354 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... |
OMIM:619736 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Malar flattening, Short nos... |
OMIM:613670 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Microcephaly, Growth delay, Microphthalmia, Cutaneous photosen... |
OMIM:278780 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Depressed nasal bridge, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the ma... |
OMIM:108721 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
2q33.1 deletion syndrome |
|
Short stature, High palate, Cleft palate |
DECIPHER:51 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Vitreou... |
OMIM:312700 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Short stature, Jaundice, Severe postnatal growth retard... |
OMIM:613038 |
Seckel Syndrome |
|
Prematurely aged appearance, Abnormal dental enamel morphology, Sandal gap, Micrognathia, Short s... |
ORPHA:808 |
Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Sandal gap, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micro... |
OMIM:619775 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Verheij Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Short stature, Broad nasal ti... |
OMIM:615583 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Coxa valga, Wide anterior fontanel, Abnor... |
ORPHA:163649 |
Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Dental crowding, Micromelia, Underdeveloped nasal alae, Microcep... |
OMIM:180870 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... |
OMIM:155050 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, Death in childho... |
OMIM:214100 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Limb joint contracture, Ankle flexion contr... |
ORPHA:284417 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... |
OMIM:252100 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna... |
ORPHA:93329 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Absent thumb, Unilateral radial ap... |
OMIM:614900 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Skeletal muscle atrophy, Talipes, Cachexia, Flexion contracture, Myopathy, Gait... |
ORPHA:157973 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Failure to thrive, Depressed nasal bridge, Proportionate short stature, Micrognathia, Microcephal... |
OMIM:613457 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Microcephaly, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, Growth delay, Hi... |
OMIM:608363 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Microcephaly, Wide mouth, Delayed ... |
OMIM:618506 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Microcephaly, Inability to... |
OMIM:615716 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping, Hypoplastic iliac wing, Depress... |
OMIM:300863 |
Triploidy |
|
Finger syndactyly, Intestinal malrotation, Micrognathia, Narrow mouth, Non-midline cleft lip, Cle... |
ORPHA:3376 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Short... |
OMIM:617102 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Anteverted nares, Optic nerve hypop... |
ORPHA:357001 |
Miller-Dieker Syndrome |
|
Anteverted nares, Ataxia, Growth delay, Abnormal upper lip morphology, Lissencephaly, Hypoplasia ... |
ORPHA:531 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Pr... |
ORPHA:2107 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Short di... |
ORPHA:2776 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridge, Short stature, Microg... |
ORPHA:3098 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Micrognathia, Prominent nose, Basal ganglia calcification, Flexion cont... |
OMIM:214150 |
Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... |
OMIM:617883 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Narrow mo... |
ORPHA:261295 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... |
ORPHA:90652 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ... |
OMIM:300590 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Metaphyseal widening,... |
ORPHA:93357 |
Juberg-Hayward Syndrome |
|
Wide nose, Toe syndactyly, Severe short stature, Microcephaly, Short thumb, Hypoplasia of the rad... |
ORPHA:2319 |
Cohen Syndrome |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Sh... |
OMIM:216550 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Depressed nasal bridge, Small for gestational age, Microcephaly, Postnatal growth retardation, In... |
ORPHA:319332 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... |
OMIM:617201 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microc... |
ORPHA:46 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... |
ORPHA:2831 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Pes planus, Cachexia, Micrognathia, Abnormality of the lower... |
ORPHA:1979 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Widely space... |
OMIM:300882 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Anteverted nares, Arachnodactyly, Reduced cerebral white matter volume, ... |
OMIM:616420 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Limb joint contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contra... |
ORPHA:280384 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Arachnodactyly, Short stature |
ORPHA:1144 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Single transverse palmar crease, Micro... |
OMIM:613604 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Short stature, Small for gestational age, Progeroid facial appearance, Hypopla... |
OMIM:608154 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Exaggerated cupid's bow, Small for gestational age, Tapered finger, Micrognathia, Bulb... |
OMIM:614501 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation, Obesity, Knee... |
OMIM:618395 |
Silver-Russell Syndrome |
|
Relative macrocephaly, Decreased muscle mass, Sandal gap, Short stature, Dental crowding, Microgn... |
ORPHA:813 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, ... |
ORPHA:79107 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Death in infancy, Hip contracture, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Necr... |
OMIM:616809 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Cachexia, Malabsorption, Ragged-red muscle fibers, Weight ... |
OMIM:613662 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... |
OMIM:617604 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Single transverse palmar crease, Persistenc... |
OMIM:610253 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a... |
OMIM:619941 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Thrombocytopenia, Splenomegaly, Optic atroph... |
OMIM:617303 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:231393 |
Diencephalic Syndrome |
|
Large hands, Everted lower lip vermilion, Cachexia, Decreased body weight |
ORPHA:1672 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Failure to thrive, Sinusitis, Recurrent upper respiratory tract infections,... |
ORPHA:583 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Wide nasal bridge, H... |
OMIM:618393 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Ataxia, Bulbous nose, Wide mouth, Macroglossia, Everted lower lip vermili... |
OMIM:616789 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Scapular winging, Depressed nasa... |
ORPHA:1327 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Micrognathia, Micro... |
OMIM:611890 |
Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Ataxia, Protruding tongue, Hypoplasia of the maxilla, Ob... |
OMIM:105830 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislocation, Patellar disl... |
ORPHA:93328 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Depressed nasal bridge, Optic nerve hypoplasia, Anteverted nares, Micrognathia, Rh... |
OMIM:222765 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Short stature, Micrognathia, Coxa vara, Abnormal fibula mo... |
ORPHA:1988 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Wide nasal bridg... |
ORPHA:93267 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... |
ORPHA:364577 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short stature, Depressed nasal ridge, Narrow mouth, Short nose, Abnormal oral c... |
ORPHA:1355 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Talipes calc... |
OMIM:300534 |
Achondrogenesis Type 1B |
|
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Disproportionate short stature,... |
ORPHA:93298 |
Cog7-Cdg |
|
Failure to thrive, Small for gestational age, Micrognathia, Postnatal growth retardation, Long fi... |
ORPHA:79333 |
Idiopathic Congenital Hypothyroidism |
|
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal ... |
ORPHA:95717 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Micrognathia, High, narrow palate, Hypoplasia of the brainstem, Congenital... |
OMIM:248700 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Depresse... |
OMIM:301040 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ... |
OMIM:605274 |
Congenital Varicella Syndrome |
|
Micromelia, Microcephaly, Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation |
ORPHA:291 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Failure to thrive, Anteverted nares, Short stature, Microcephaly, Postn... |
OMIM:243310 |
Rett Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Abnormality of the dentition, Gait apraxia, Gai... |
OMIM:312750 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Widely s... |
OMIM:218330 |
Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Microcephaly, Cubitus valgus, ... |
OMIM:619694 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Short stature, Abnormal morphology of ulna, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:1837 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Skeletal muscle atrophy, Thin upper lip vermilion, Micrognathia, Postnatal growth r... |
OMIM:615419 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... |
ORPHA:915 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... |
ORPHA:99827 |
Smith-Kingsmore Syndrome |
|
Reduced cerebral white matter volume, Large for gestational age, Rhizomelia, Depressed nasal brid... |
OMIM:616638 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos... |
OMIM:218600 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, Rocker bottom foot, Bilateral single transverse palmar creases, Primar... |
OMIM:618804 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A... |
ORPHA:2491 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Long nose,... |
OMIM:618143 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares,... |
OMIM:613320 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... |
ORPHA:2919 |
Neuralgic Amyotrophy |
|
Scapular winging, Short stature, Cleft palate, Narrow mouth, Acrocyanosis |
ORPHA:2901 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... |
ORPHA:397973 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Micrognathia, Increased variability in muscle fiber diameter, Narrow palate, Femoral... |
OMIM:617022 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Feingold Syndrome 2 |
|
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... |
OMIM:614326 |
Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Small for gestational age, Ataxia, Leukoencephalopathy, M... |
ORPHA:79325 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures |
|
Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Corpus callosum atrophy, Cerebral a... |
OMIM:619876 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia |
ORPHA:721 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... |
OMIM:311900 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Micrognathia, Split hand, Cleft palate, Intrauterin... |
ORPHA:2145 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation... |
ORPHA:1895 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment |
ORPHA:90050 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Long philtrum, Genu v... |
OMIM:184260 |
Pontocerebellar Hypoplasia, Type 9 |
|
Facial hypotonia, Hypoplasia of the pons, Short upper lip, Macroglossia, Secondary microcephaly, ... |
OMIM:615809 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Cerebral white matter atrophy, Proximal placement... |
ORPHA:435638 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Narrow mouth, Open mouth, Delayed eruption of perma... |
OMIM:619356 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Microcephaly, Flexion contracture, Hip dysplasia, Hypoplasia of the corpus c... |
OMIM:618379 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Clinodactyly of the 5th finger,... |
OMIM:266920 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... |
OMIM:613443 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, High palate, Decreased body weight,... |
ORPHA:800 |
Coffin-Siris Syndrome 4 |
|
Prominent interphalangeal joints, Short philtrum, Thick nasal alae, Agenesis of corpus callosum, ... |
OMIM:614609 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Postnatal growt... |
ORPHA:96184 |
Costello Syndrome |
|
Thickened Achilles tendon, Depressed nasal bridge, Abnormal dental enamel morphology, Short statu... |
ORPHA:3071 |
Filippi Syndrome |
|
Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Postnatal growth ... |
OMIM:272440 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... |
ORPHA:1240 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Failure to thrive, Optic nerve hypoplasia, Broad nasal tip, Micrognathia, ... |
OMIM:620157 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Microcephaly, ... |
ORPHA:3304 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Achondrogenesis Type 1A |
|
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Macrocephaly, Short foot, Short... |
ORPHA:93299 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,... |
ORPHA:171839 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Severe short stature, Irregular iliac crest, Abno... |
ORPHA:93316 |
Hartsfield Syndrome |
|
Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of th... |
ORPHA:2117 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Microcephaly, Abnormality of the dentition, Postaxial hand polydact... |
ORPHA:1702 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Short stature, Small for gestational age, Hypoplasia of the maxilla, Cl... |
OMIM:614261 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Moynahan Syndrome |
|
Short stature, Cachexia, Microcephaly |
ORPHA:2574 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Cerebral white matter atrophy, Thin upper lip vermilion, Micrognathia, Congenit... |
OMIM:615042 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Congenital diaphragmatic hernia, Micro... |
ORPHA:1915 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Microcephaly, Micrognathia, Submucous cleft hard ... |
ORPHA:2521 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypop... |
OMIM:166300 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Relative macrocephaly, Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesit... |
ORPHA:254525 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microcephaly, Abnormal nostril morphology, Narrow mouth, Micro... |
ORPHA:3469 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Postnatal growth retardation, Ce... |
ORPHA:576283 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Short stature, Primary microcephaly, Short nose, Pes cavus |
OMIM:245570 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Corpus callosum atrophy, Depressed nasal ridge, Gingival overgrowth, Limb ... |
OMIM:248500 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Long nose, Short philtrum, Dela... |
ORPHA:52 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Micrognathia, Aplasia of the pectoralis major mu... |
ORPHA:1358 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... |
ORPHA:96334 |
C Syndrome |
|
Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh... |
OMIM:211750 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, High palate, Widely spaced teeth, Aplasia/Hyp... |
ORPHA:192 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ... |
OMIM:154780 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R... |
ORPHA:370959 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short stature, Cleft lip, Bulbous nose, Deep philtrum, Inabil... |
OMIM:618571 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Macroglossia, Tented upper lip vermilion, High palate, Wide nasal bridge |
OMIM:616025 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Increased laxity of ankl... |
ORPHA:481152 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Obesity, Hip dysplasia, Thin vermilion border, Hi... |
OMIM:617991 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Depressed nasal bridge, Ataxia, Open mouth, Unsteady gait, Downturned corners o... |
OMIM:617865 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, ... |
OMIM:616920 |
Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Micrognathia, Postaxial hand polydactyly, Sub... |
ORPHA:2189 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars... |
OMIM:614613 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxil... |
ORPHA:245 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Microretrognathia, S... |
ORPHA:3380 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Hypoplasia of the primary te... |
OMIM:257850 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... |
ORPHA:457395 |
Achondrogenesis |
|
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Macrocephaly, Short nose, Long ... |
ORPHA:932 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... |
OMIM:269250 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Tented upper lip vermilion, High, narrow palate, ... |
ORPHA:488632 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, T... |
ORPHA:2928 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... |
OMIM:618886 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Depressed nasal bridge, Large for gestational age, Delayed epiphyseal ossification, Macroglossia,... |
ORPHA:226313 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Short stature, Jaundice, Early ossification of capital ... |
OMIM:208500 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ... |
OMIM:614753 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Microscopic hematuria, Excessive bleeding after a venipuncture, Myoca... |
ORPHA:319213 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Flexion contracture of finger, Depressed nasal bridge, Anteverted nares, Overlapping to... |
ORPHA:254528 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverte... |
OMIM:614701 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Short stature, Micrognathia, Microcephaly, Bulbous nose, Wide n... |
ORPHA:93946 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Waddling gait, Short m... |
OMIM:612350 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Ataxia, Cachexia, Carious teeth, Cerebral cortic... |
ORPHA:2047 |
Perlman Syndrome |
|
Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe... |
ORPHA:2849 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... |
OMIM:305400 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Anteverted nares, Fractured radius, Small for gestational age, Decreased fibular dia... |
OMIM:616897 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Icf Syndrome |
|
Depressed nasal bridge, Short stature, Protruding tongue, Micrognathia, Malabsorption, Macrogloss... |
ORPHA:2268 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Downturned corners of mouth, High palate, Depressed nasal bridge, Anteverted nares,... |
OMIM:613792 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... |
ORPHA:1328 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microcephaly, Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Ta... |
OMIM:613885 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Anteve... |
OMIM:613026 |
Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hypertropy, De... |
OMIM:252500 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia ... |
ORPHA:75564 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Nephr... |
OMIM:269920 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Intrauterine growth retardation, Failure to thrive, Small for gestational age |
ORPHA:99886 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Convex nasal ridge, Micrognathia, Tibial bowing, High palate, Short philtrum, Cl... |
ORPHA:251028 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Small for gestational age, Microcephaly, Hypoplasia of the ... |
ORPHA:93950 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Short stature, Broad nasal tip, Bifid nasal tip, Cleft palate, Poly... |
OMIM:300484 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Calcinosis, Plantar hyperkeratosis, Telangiect... |
ORPHA:2909 |
Chromosome 16Q22 Deletion Syndrome |
|
Broad hallux, Depressed nasal bridge, Small for gestational age, Micrognathia, Postnatal growth r... |
OMIM:614541 |
Temple Syndrome |
|
Relative macrocephaly, Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Microg... |
OMIM:616222 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, ... |
OMIM:620370 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Progressive macrocephaly, Abnormal cerebral white matter morphology, Focal T2 h... |
ORPHA:363717 |
Thyroid Hemiagenesis |
|
Growth delay, Macroglossia, Jaundice |
ORPHA:95719 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... |
ORPHA:2741 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Mic... |
OMIM:241410 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislocation, High... |
OMIM:143095 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age, Microcephaly, Temporal cortical atrophy, Athetosis, Lip disc... |
ORPHA:621 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Short stature, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpu... |
OMIM:300887 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Sho... |
ORPHA:2751 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, High palate, Hypoplasia of the corpus callosum, Narrow mou... |
ORPHA:217385 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, High palate,... |
OMIM:300676 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the ... |
ORPHA:776 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Microc... |
ORPHA:3121 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, Micrognathia, Ata... |
ORPHA:48431 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... |
ORPHA:464321 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Cerebral calcification, Depressed nasal bridge, Camptodactyly of finger... |
ORPHA:628 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Failure to thrive, Single transverse palmar crease, Broad nasal tip, Overw... |
ORPHA:391372 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Micrognathia, Postnatal growth retardation, Microcephaly, Inability to wal... |
OMIM:614222 |
Otoonychoperoneal Syndrome |
|
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f... |
OMIM:259780 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares,... |
ORPHA:2886 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Oculoskeletodental Syndrome |
|
Short stature, Small for gestational age, Elbow flexion contracture, Wide nasal bridge, Lacunar s... |
OMIM:618440 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S... |
OMIM:619339 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Wide nose, Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High pala... |
ORPHA:254531 |
Trisomy 12P |
|
Short stature, Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of the iris, Dow... |
ORPHA:1699 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... |
ORPHA:3186 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Pes planus, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Wide nasal bridge... |
OMIM:618302 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Agenesis of corpus ... |
OMIM:619194 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem... |
OMIM:619142 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hama... |
OMIM:258860 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Microcephaly, Small hand... |
ORPHA:444077 |
Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly |
ORPHA:221054 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Small hand, Downturn... |
OMIM:618779 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Smooth philtrum, Cleft soft palate, Prominent nose, Bulbous nose, Retrognathia, Depressed nasal t... |
ORPHA:293725 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Abnormal hemidiaphragm morphology, Micrognathia, Microcephaly, Patellar hypoplasia, Cle... |
ORPHA:2257 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Short stature, Microcephaly, ... |
OMIM:300558 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Knee flexion contracture, Hypoplasia of the brainstem, Hi... |
OMIM:193700 |
Adams-Oliver Syndrome 4 |
|
Cutis marmorata, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx o... |
OMIM:615297 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... |
OMIM:246560 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, S... |
ORPHA:261494 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Overtubulated long bones,... |
OMIM:619793 |
Tenorio Syndrome |
|
Mandibular prognathia, Wide nose, Anteverted nares, Wide mouth, Macroglossia, Gait disturbance, R... |
OMIM:616260 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular femoral epiphysis... |
OMIM:613805 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto... |
OMIM:612840 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Dental crowding, Clubbing, Hip dislocation, Macroglossia, Joint contracture of the hand |
OMIM:618523 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Waddling gait, Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb... |
ORPHA:156728 |
Chromosome 3Q29 Duplication Syndrome |
|
Pes planus, Microcephaly, Abnormally large globe, Bulbous nose, Wide nasal bridge, Obesity, Multi... |
OMIM:611936 |
Sialuria |
|
Thin upper lip vermilion, Wide nasal bridge, 2-3 toe syndactyly, Macroglossia, High palate, Macro... |
OMIM:269921 |
Acro-Renal-Ocular Syndrome |
|
Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... |
ORPHA:959 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Pes planus, Depressed nasal bridge, Exaggerated cupid's bow, Single transverse palmar crease, Mic... |
OMIM:620098 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Absent septum pellucidum, Microcephaly, Protruding tongue, Obesity, Growth dela... |
ORPHA:96147 |
Schilbach-Rott Syndrome |
|
Short stature, Micrognathia, Long nose, Prominent nose, 2-3 toe cutaneous syndactyly, Microcephal... |
OMIM:164220 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Me... |
OMIM:276700 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Sandal gap, Microcephaly, Inability to walk, Gait ataxia, Narrow mouth,... |
OMIM:616459 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamar... |
ORPHA:2930 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Short stature, Cachexia, Microcephaly, Ataxia, Ileus, Athetosis, Malar fla... |
ORPHA:52503 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Arachnoda... |
ORPHA:1716 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... |
OMIM:617718 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... |
ORPHA:85166 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Subcortical b... |
OMIM:618737 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ... |
ORPHA:1427 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Anteverted nares, Cutis marmorata, Shor... |
ORPHA:109 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, P... |
OMIM:619489 |
Fucosidosis |
|
Absent/hypoplastic paranasal sinuses, Wide nose, Depressed nasal bridge, Angiokeratoma, Short sta... |
OMIM:230000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Microcephaly, Cleft upper lip, Partial absence of cerebellar vermis, Increased ... |
OMIM:613150 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short philtrum, Clinodactyly of ... |
ORPHA:819 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial agenesis of the corpus callos... |
OMIM:615771 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Short stature, Underdevelope... |
OMIM:615866 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Cutis marmorata, Single transverse palmar crease, Micrognathia, Microceph... |
OMIM:614219 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Wide nasal bridge, Broad philtrum, ... |
OMIM:618577 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Diffuse white m... |
OMIM:218000 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Erythema, Flexion contracture, Wide nasal b... |
OMIM:610015 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Achilles tendon contracture, Macroglossia, Calf muscle hypertrophy, Shoulder girdl... |
OMIM:607155 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Broad thum... |
OMIM:614526 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Hepatosplenomega... |
ORPHA:505248 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Depressed nasal bridge, Cutis marmorata, Megalencephaly, Progressive macrocephaly, Po... |
OMIM:602501 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Pes planus, Failure to thrive, Congenital hip dislocation, Anteverted nares, Microcephaly, Cariou... |
OMIM:219200 |
Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose,... |
ORPHA:1200 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp... |
ORPHA:858 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Short stature, Microcephaly, Hip dislocation, Wide nasal bridge, Buphthalmos, ... |
OMIM:618005 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Lymphocytosis, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Pes cavus, Failure to thrive, Tented upper lip vermilion, Depressed nasal bridge, Short stature, ... |
OMIM:619833 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic syndrome... |
OMIM:105200 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Shuffling gait, Lower limb mu... |
OMIM:300266 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... |
OMIM:166250 |
Tonne-Kalscheuer Syndrome |
|
Pes planus, Broad-based gait, Short stature, Prominent nasal bridge, Congenital diaphragmatic her... |
OMIM:300978 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... |
OMIM:619148 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi... |
OMIM:232220 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia... |
OMIM:255800 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Glossopt... |
ORPHA:828 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... |
OMIM:179270 |
Al Kaissi Syndrome |
|
High, narrow palate, Decreased body weight, Depressed nasal bridge, Short stature, Decreased head... |
OMIM:617694 |
Cleidocranial Dysplasia 2 |
|
Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypopla... |
OMIM:620099 |
Tetrasomy 18P |
|
Microcephaly, Narrow mouth, Large hands, Thin vermilion border, Gait disturbance, Long philtrum, ... |
ORPHA:3307 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate, Large for gestational age |
ORPHA:2432 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cerebral calcification, Short stature, Ataxia, Cachexia, Microcephaly |
ORPHA:1933 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Short stature, Retrognathia, Orofacial cleft, Wide mouth, Lissencephaly... |
OMIM:614583 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Short stature, Prominent nasal bridge, Small for gestational age, Underdevelope... |
OMIM:611091 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Prematurely aged appearance, Cachexia, Microcephaly, Pre... |
OMIM:610965 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Equinovarus deformity,... |
ORPHA:3078 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus... |
OMIM:239300 |
Desmosterolosis |
|
Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Depressed nasal b... |
ORPHA:35107 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Short metatarsal, Narrow foot, Gait ataxia, Finger clinodactyly,... |
ORPHA:2896 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Hurler Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypoplasia of the femoral head, Broad nasal tip, Coxa v... |
OMIM:607014 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Short lingual frenulum, Broad nasal tip, Hypoplasia of the maxilla, Met... |
ORPHA:293939 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Micrognathia, Aplasia/Hypoplasia of... |
ORPHA:1234 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... |
ORPHA:93351 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Thin upper lip vermilion, Anteverted nares, Ataxia, Microcephaly, Thick lower lip ver... |
ORPHA:1942 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Short stature, Bilateral single transverse palmar creases, ... |
ORPHA:1786 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance... |
OMIM:215045 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Miscarriage, Broad long bones, Micromelia, Bowing of the legs, Micrognathia... |
ORPHA:1865 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... |
OMIM:618961 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad hallux, Microcephaly,... |
OMIM:614105 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Ataxia, Abnormal foot morphology, Inability to walk, Choreoathetosis, P... |
OMIM:618218 |
Athyreosis |
|
Growth delay, Macroglossia, Short stature |
ORPHA:95713 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the philtrum, Micromelia, Microcep... |
ORPHA:1597 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, S... |
OMIM:302950 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr... |
OMIM:619143 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Abnormality of t... |
ORPHA:627 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Prominent nose, High palate, H... |
ORPHA:763 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Pes planus, Broad-based gait, Abnormal dental morphology, Micrognathia... |
ORPHA:369950 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Smooth philtrum, Short stature, Prominent nasal bridge, Optic nerve hypoplasia, Abnormally large ... |
OMIM:300749 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Ataxia, Cachexia, Dysmetria |
OMIM:618093 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Short stature, Small for gestational age, Fifth finger distal phalanx clinodactyly, Postnatal gro... |
ORPHA:3369 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Short ph... |
ORPHA:228384 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar a... |
OMIM:613804 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Depressed nasal bridge, T2 hypointense basal ganglia, Broad nasal tip, ... |
ORPHA:79255 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Anteverted nares, Prominen... |
ORPHA:769 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Failure to thrive, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe synd... |
ORPHA:485405 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Microg... |
ORPHA:404440 |
Monosomy 18P |
|
Short stature, Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Cleft palate, Downtu... |
ORPHA:1598 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
U-Shaped upper lip vermilion, Death in infancy, Tented upper lip vermilion, Anteverted nares, Sho... |
ORPHA:847 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Failure to thrive, Short stature, Microcephaly, Bifid nasal tip, Unilat... |
OMIM:618874 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Prominent superficial veins, Failure to thrive, Skeletal muscle hypertroph... |
ORPHA:528 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor... |
ORPHA:96148 |
Familial Thyroid Dyshormonogenesis |
|
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal ... |
ORPHA:95716 |
Wild Type Abeta2M Amyloidosis |
|
Intestinal pseudo-obstruction, Abnormal tendon morphology, Macroglossia, Abnormal shoulder morpho... |
ORPHA:85446 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Inabi... |
OMIM:617802 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia,... |
OMIM:614744 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Microdontia, Bila... |
OMIM:618268 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum, De... |
ORPHA:93945 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Abnormal foot morphology, ... |
OMIM:249620 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... |
ORPHA:2019 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, Short th... |
OMIM:613390 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Overlapping toe, Short stature... |
OMIM:616723 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Limb muscle weakness, Cerebral cortical ... |
ORPHA:97229 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Dental crowding, Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Ta... |
ORPHA:476126 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... |
ORPHA:2633 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Basal ganglia calcification, High palate, Joint contracture of the 5th ... |
OMIM:164200 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Growth delay, Microphthalmia, Failure to thrive, Agenesis of corp... |
OMIM:274270 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft pala... |
OMIM:616462 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes... |
ORPHA:1908 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Short stature, Single transverse palmar crease, Microcephaly, Supernumera... |
OMIM:617412 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Microcephaly, Wide nasa... |
OMIM:224410 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Short stature, Carious teeth, Deep philtrum, Thick lower lip vermilion, Abnorma... |
ORPHA:2701 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Short stature, Obesity, Genu valgum, Hi... |
ORPHA:1035 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Agenesis of corp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Agenesis of corp... |
ORPHA:352665 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Depressed nasal bridge, Short stature, Large for gestational age, Py... |
ORPHA:363705 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum... |
OMIM:618622 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Failure to thrive, Anteverted nares, Choanal atresia, Protruding tongue... |
ORPHA:561 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Shor... |
OMIM:114300 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Diastasis recti, Metatarsus adductus, Hypoplasia of the odon... |
OMIM:253220 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... |
ORPHA:79113 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi... |
OMIM:200600 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly, Hypoplasia of the maxilla, ... |
ORPHA:178303 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Peho Syndrome |
|
Tented upper lip vermilion, Edema of the dorsum of feet, Tapered finger, Open mouth, Retrognathia... |
OMIM:260565 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Microcephaly, Abnormality of the dentition, Growth delay, Epiphyseal s... |
ORPHA:177 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Ataxia, Microcephaly, Inability to walk, Clinodactyly, Dysmetr... |
OMIM:618087 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Microretrognathia, Scapu... |
OMIM:618870 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Abnormal epiphysis morphology, Long philtrum, Abnormal v... |
ORPHA:90653 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Cleft pa... |
ORPHA:85284 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow mouth, Partial agenesis of the corpus callosum, Wide nasal b... |
OMIM:620250 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Secondary microcephaly |
OMIM:610992 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Pes planus, Short stature, Prominent nasal bridge, Proximal placement of th... |
ORPHA:251071 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short stature, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid ... |
OMIM:258865 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Failure to thrive, Anteverted nares, Cutis marmorata, Protruding tongue, Alveolar ridge overgrowt... |
OMIM:612938 |
Temtamy Syndrome |
|
Pes planus, Dental crowding, Micrognathia, Hip dislocation, Thick corpus callosum, Hypoplasia of ... |
OMIM:218340 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Micr... |
ORPHA:2409 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... |
ORPHA:1458 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
Raine Syndrome |
|
Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Choanal stenosis, High p... |
OMIM:259775 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Short stature, Cachexia, Microcephaly, Ataxia, Choreoathetosis, Gai... |
ORPHA:702 |
Ulbright-Hodes Syndrome |
|
Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal bridge, Humeroradial syn... |
ORPHA:3404 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the hand, Duodena... |
ORPHA:2547 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Congenital hip dislocation, Prominent veins on trunk, High palate, Pachygy... |
ORPHA:357074 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Abnormal dental p... |
ORPHA:2791 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short stature, Frontal open bite, Micrognathia, Postnatal growth retardation, Wide anterior fonta... |
OMIM:225410 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Short stature, Achilles tendon co... |
OMIM:252940 |
Toluene Embryopathy |
|
Short stature, Tapered finger, Micrognathia, Microcephaly, Thin vermilion border, Hypoplasia of t... |
ORPHA:1920 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal metacarpal morphology, Aplasia/Hypoplasia of... |
ORPHA:93262 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ataxia, Microcephaly, Thick vermilion border, Long philtrum, Short nose |
ORPHA:833 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co... |
ORPHA:63446 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Pes cavus, Small for gestational age, Talipes, Single transverse palmar crease, Microcephaly, Ata... |
ORPHA:79243 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary tra... |
ORPHA:79301 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Intellectual Disability-Strabismus Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Prominent nose, High palate, Agenesis of corpus ca... |
ORPHA:363528 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... |
ORPHA:429 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Micrognathia, Death in infancy, Short stature, Thick vermilion border, N... |
OMIM:608779 |
Hypertrichosis Cubiti |
|
Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Microcephaly, Abnormality o... |
ORPHA:2220 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis... |
OMIM:613313 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Primary microcephaly, Bul... |
OMIM:618828 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... |
ORPHA:1225 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cleft palate, Hypoplasia of the corpus ... |
OMIM:164180 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Cyanosis, Ataxia, Progressive microcephaly |
ORPHA:71277 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... |
OMIM:615777 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Microcephaly, Micrognathia, High palate, Intrauterine growth retardation,... |
ORPHA:1913 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:601390 |
Congenital Macroglossia |
|
Macroglossia |
ORPHA:2430 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Micromelia, Talipes, Abnormal thumb morpholo... |
ORPHA:1842 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... |
OMIM:121300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Dysplastic corpus callosum, Depresse... |
OMIM:616854 |
Dpm1-Cdg |
|
Failure to thrive, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Ataxia, Microg... |
ORPHA:79322 |
Macroglossia |
|
Macroglossia |
OMIM:153630 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Antev... |
ORPHA:59315 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... |
ORPHA:615 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... |
ORPHA:85447 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ... |
OMIM:217980 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Metaphyseal cupping, Hypoplastic ilia, Metaphyseal widening, Hypo... |
OMIM:614524 |
Roifman Syndrome |
|
Narrow nasal bridge, Hip contracture, Thin upper lip vermilion, Epiphyseal dysplasia, Short statu... |
ORPHA:353298 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Marshall Syndrome |
|
Cerebral calcification, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Hy... |
ORPHA:560 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Severe short stature, Short stature, Intestinal pseudo-obstruction, Sp... |
OMIM:309900 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Sandal gap, Short stature, Dental c... |
OMIM:617877 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cerebellar vermis hypoplasia, Hig... |
OMIM:618494 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Small hand, Sho... |
ORPHA:238750 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Micrognathia, Microcephaly, Flexion contracture, Cerebral atrophy, Seco... |
OMIM:615851 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos... |
ORPHA:99826 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa... |
OMIM:617602 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, High palate, Bilateral coxa valga, Bifid uvula... |
OMIM:615582 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Depressed nasal bridge, Micromelia, Dumbbell-shaped long bone, Hypopla... |
OMIM:151210 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Dysmetria, H... |
ORPHA:3041 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Microcephaly, Polydactyly, Intrauterine growth retardation, Short nose, H... |
OMIM:616910 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent... |
OMIM:608612 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Ma... |
OMIM:601356 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Arachnodactyly, Dental crowding, Poor wound healing, Facial hypotonia, Narrow mouth, Cerebral atr... |
OMIM:615539 |
Momo Syndrome |
|
Delayed eruption of teeth, Cutis marmorata, Short stature, Large for gestational age, Bilateral m... |
ORPHA:2563 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Short stature, Prea... |
OMIM:610536 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Short stature, Dental crowding, Abnormally ... |
OMIM:269300 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, S... |
OMIM:612530 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Talipes, Microcephaly, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Furrowed tongu... |
ORPHA:453499 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... |
OMIM:276820 |
15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Depressed nasal bridge, Short statu... |
ORPHA:94065 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Metaphyseal widening, Coxa vara, Genu varum, Depressed nasal bridge, Antev... |
OMIM:271510 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Depressed nasal bridge, Short stature, Carious t... |
OMIM:253200 |
Micro Syndrome |
|
Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Micrognathia, Microcephaly, Wide n... |
ORPHA:2510 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Disproportionate short stature,... |
ORPHA:1801 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ... |
OMIM:605130 |
Fetal Hydantoin Syndrome |
|
Short stature, Microcephaly, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip v... |
ORPHA:1912 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Congenital diaphragmatic hernia, O... |
ORPHA:1692 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Micrognathia, Microcephaly, Downturned corners of mouth, Lissencephaly, Neonata... |
OMIM:616342 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Ataxia, Micrognathia, Talipes equinovalgus, Inability to walk, Distal amyo... |
OMIM:617183 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger,... |
OMIM:210720 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... |
OMIM:619854 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ... |
ORPHA:373 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Thin upper lip vermilion, Anteverted nares, Short stature, Sin... |
OMIM:616651 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... |
ORPHA:158029 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of cerebellar vermis, Ataxia, Microcepha... |
OMIM:213300 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose |
ORPHA:1514 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Hypoplasia of the musculature,... |
OMIM:265050 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Tapered finger, Microcephaly, Abnormality of the dentiti... |
ORPHA:65286 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Cerebellar vermis hypoplasia, Downturned corners of mouth, High palate, Dandy-Walke... |
OMIM:605627 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Short stature, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline c... |
ORPHA:1784 |
Joubert Syndrome 37 |
|
Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Postaxial polydactyly, ... |
OMIM:619185 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Microcephaly, Abnormality of the dentition, Deep philtrum, Wide nasal... |
ORPHA:251038 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropen... |
ORPHA:79312 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Microcephaly, Inability to walk, Upper-limb joint cont... |
ORPHA:300605 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Weight loss, Abnormal cerebral morphology, Gait disturbance, Cerebral cortical a... |
ORPHA:98934 |
Desmosterolosis |
|
Relative macrocephaly, Hypoplastic nasal bridge, Failure to thrive, Rhizomelia, Anteverted nares,... |
OMIM:602398 |
Hurler Syndrome |
|
Death in infancy, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Short statur... |
ORPHA:93473 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnoda... |
OMIM:309520 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... |
ORPHA:3226 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Gomez-Lopez-Hernandez Syndrome |
|
Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Agenesis of cerebellar vermis, Ata... |
OMIM:601853 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Depressed nasal bridge, Microcephaly, Inability to walk, Globus pallidus hypoin... |
OMIM:617988 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Severe short stature, Cerebral calcification, Facial palsy, Micrognath... |
ORPHA:2780 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Anal atresia, Wide nose, Toe syndactyly, Camptodactyly of finger, Microgna... |
ORPHA:261337 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Anteverted nares, Short stature, Cachexia, Midline de... |
ORPHA:1969 |
Metatropic Dysplasia |
|
Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Cleft palate, ... |
ORPHA:2635 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Positional foot deformity, Gait atax... |
ORPHA:496790 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Weight loss |
ORPHA:2221 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Cerebellar vermis hypoplasia, Anteverted nares, Overlapping toe, Tented uppe... |
OMIM:619383 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central... |
OMIM:309580 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ... |
OMIM:211350 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Microcephaly, Abnormal ... |
ORPHA:896 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Failure to thrive in infancy... |
ORPHA:488627 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... |
OMIM:601358 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Thomas Syndrome |
|
Oligohydramnios, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Short... |
OMIM:611717 |
Lissencephaly 8 |
|
Skeletal muscle atrophy, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... |
OMIM:617255 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Short stature, Depressed nasal bridge, Submucous cleft hard palate, Finger j... |
OMIM:601492 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Disproportionate short-limb s... |
OMIM:618618 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Talipes calcaneovalgus, Cleft palate, Deep palmar crease, Microphthalmia |
OMIM:600251 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Small for gestational age, Rocker bottom foot, Micrognathia, Prominent nose, Talipes equinovalgus... |
ORPHA:453510 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom... |
OMIM:300912 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Short sta... |
ORPHA:647 |
3C Syndrome |
|
Micrognathia, High, narrow palate, Orofacial cleft, Aplasia/Hypoplasia of the cerebellum, Dandy-W... |
ORPHA:7 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Premature loss... |
ORPHA:99843 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Limited elbow extension and supination, Prominent nasal ... |
ORPHA:401935 |
Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Short stature, Bilateral single transverse palmar creases, Micrognathia, Obesit... |
ORPHA:3191 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Mi... |
OMIM:243605 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Papilledema, First degree atrioventricular block, Cellular urinary ca... |
ORPHA:509 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, ... |
ORPHA:1295 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra... |
OMIM:601559 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Dental malocclu... |
OMIM:608940 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Bilateral single transverse palmar creases, Prominent nasal bridge, Camptodactyly of finger, Micr... |
ORPHA:2083 |
Radio-Renal Syndrome |
|
Severe short stature, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypo... |
ORPHA:3015 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Short stature, Small for gestational age, Secondary microcephaly, Hypop... |
ORPHA:289266 |
Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Short stature, Facial hypotonia, Microcephaly, Broad nasal tip, Protruding tongu... |
OMIM:618106 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, Abnormality of the hand, Atrophic muscularis propria, Ragged-red... |
ORPHA:298 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Flexion co... |
OMIM:619124 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Cavum septum pellu... |
OMIM:247200 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Ataxia,... |
OMIM:618430 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Growth delay, Microcephaly |
OMIM:614082 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A... |
ORPHA:1836 |
Juvenile Polyposis Of Infancy |
|
Depressed nasal bridge, Short stature, Cachexia, High, narrow palate, Rectal prolapse, Narrow mou... |
ORPHA:79076 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology, Short stature, Microcephaly |
ORPHA:2204 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Micrognathia, R... |
ORPHA:163961 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Metaphyseal dysplasia, Epiphyseal dysplasia, Depressed nasal bridge, Postnatal growth retardation... |
OMIM:614732 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Severe short stature, Anteverted nares, Depressed nasal bridge, Sandal gap, Un... |
OMIM:616835 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Primary mic... |
OMIM:620183 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd... |
OMIM:129400 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosp... |
ORPHA:168569 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Short stature, Aganglionic megacolon, Broad nasal tip,... |
OMIM:614207 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A... |
OMIM:612394 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Anteverted nares, Prominent nasal bridge, Short stature, Inability to walk... |
OMIM:615663 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Thin upper lip vermilion, Small fo... |
OMIM:607143 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Macrocepha... |
OMIM:109120 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial f... |
ORPHA:79259 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo... |
ORPHA:251004 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Depressed nasal bridge, Disproportionate short stature, Acromesomelia, ... |
ORPHA:40 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... |
ORPHA:824 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir... |
OMIM:602390 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Microcephaly, Bulbous nose, Wide nasal bridg... |
ORPHA:250989 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... |
ORPHA:2378 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... |
OMIM:619636 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Basal ganglia calcification, Congenital contract... |
ORPHA:191 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Rhizomelia, Metaphyseal widening, Irregular epiphys... |
OMIM:612813 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... |
OMIM:611209 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Cerebral calcification, Micrognathia, Clinodactyly of the 5th finger, Apla... |
ORPHA:2710 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosi... |
OMIM:117650 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choanal stenosis... |
ORPHA:798 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa... |
OMIM:224690 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Short stature,... |
OMIM:147250 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:615546 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Waddling gait, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... |
OMIM:608728 |
Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Prominent nasal bridge, Postaxial po... |
OMIM:614424 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Lissencephaly, Secondar... |
ORPHA:50810 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinodactyly, Dentino... |
ORPHA:166277 |
Three M Syndrome 1 |
|
Mandibular prognathia, Pes planus, Scapular winging, Depressed nasal bridge, Anteverted nares, Sh... |
OMIM:273750 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Long ... |
OMIM:616894 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... |
ORPHA:50945 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Myositis, Absent muscle fiber merosin, Facial palsy, ... |
ORPHA:258 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... |
OMIM:616007 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Short stature, Prominent nasal bridge, Ataxia, Broad nasal tip, Long nose, Micr... |
OMIM:616541 |
Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Micrognathia, Microcephaly, Li... |
ORPHA:99742 |
Toriello-Carey Syndrome |
|
Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, High palate, Aplas... |
ORPHA:3338 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Tented philtr... |
ORPHA:363659 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hyp... |
OMIM:617895 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus cal... |
OMIM:614833 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Secondary microcephaly, Short philtrum, Hypoplasia of the co... |
OMIM:618437 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Abnormal fibula morphology... |
ORPHA:1812 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, Anter... |
OMIM:268400 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Micromelia, Micrognathia, Flexion contracture, D... |
ORPHA:2671 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Smooth ph... |
OMIM:611867 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Distal arthrogryposis, Macrocephaly |
ORPHA:42 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... |
ORPHA:98913 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Cerebral white matter atrophy, Micrognathia, Deep philtrum, Dental malo... |
ORPHA:329178 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Congestive heart fail... |
ORPHA:108 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Short stature, Cleft soft palate, Micrognathia, Microcephaly, Wide nasal bridge... |
ORPHA:2282 |
Alkuraya-Kucinskas Syndrome |
|
Micrognathia, Hypoplasia of the brainstem, High palate, Dandy-Walker malformation, Depressed nasa... |
OMIM:617822 |
Galloway-Mowat Syndrome 1 |
|
Micrognathia, Prominent nose, Hypoplasia of the iris, Hypoplasia of the brainstem, High palate, P... |
OMIM:251300 |
Laron Syndrome |
|
Limb undergrowth, Delayed menarche, Severe short stature, Short long bone |
OMIM:262500 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, H... |
OMIM:607597 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Failure to thrive, Cyanosis |
ORPHA:91130 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Lymphedema |
OMIM:613611 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Short s... |
OMIM:139210 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... |
OMIM:223800 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Microcephaly, Postnatal growth retardation, Flexion cont... |
OMIM:614225 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Underdeveloped nasal alae, W... |
OMIM:614230 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... |
OMIM:146510 |
Prader-Willi Syndrome Due To Translocation |
|
Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th f... |
ORPHA:177907 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Proximal placement of thumb, Short stature, Diastema, Gingival overgrowth,... |
OMIM:212066 |
Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau... |
OMIM:272950 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Postnatal growth... |
ORPHA:93324 |
Short Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal z... |
ORPHA:3163 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Optic disc pallor, Petechiae, Splenomegaly, Optic atrophy, Anemia,... |
OMIM:611490 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Acroosteolysis of d... |
ORPHA:90154 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Depressed nasal bridge, Abnormality of the dentition, Upper limb under... |
OMIM:169400 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypopl... |
ORPHA:79345 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... |
OMIM:618727 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Short stature, Prominent nasal bridge, Micrognath... |
OMIM:613803 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Waddling gait, Cyanosis, Congenital hip dislocation, Ataxia, Limb-girdle muscl... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Waddling gait, Cyanosis, Congenital hip dislocation, Ataxia, Limb-girdle muscl... |
ORPHA:590 |
Biemond Syndrome Type 2 |
|
Short stature, Preaxial polydactyly, Obesity, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Prominent nose, Microcephaly, Wide anterior fontanel... |
OMIM:614886 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Aplastic anemia, Pancyt... |
ORPHA:398124 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Microcephaly, 2-3 ... |
OMIM:616449 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... |
OMIM:302350 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Microcephaly, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections,... |
ORPHA:2399 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... |
ORPHA:508533 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Short stature, Cleft upper lip, Wide nasal bridge, Cleft... |
OMIM:201180 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Prominent nose, Microcephaly, Abnormal carpal morphology, Obesity, Madelung deform... |
ORPHA:319675 |
Trisomy 10P |
|
Decreased muscle mass, Micrognathia, Simplified gyral pattern, Orofacial cleft, High palate, Abno... |
ORPHA:171929 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short stature, Small for gestational age, Single transverse palmar cre... |
ORPHA:73272 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar... |
OMIM:122470 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Growth de... |
OMIM:614069 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Nephrolithias... |
OMIM:232200 |
Mend Syndrome |
|
Overlapping fingers, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Short s... |
ORPHA:401973 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:257300 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flat... |
ORPHA:2835 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Microcephaly, Absent thumb, Submucous cleft hard palate, Failure to thrive, Bifid uvula |
OMIM:619239 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Decreased body weight, Depressed nasal bridge, Anteverted nares, Aki... |
OMIM:608013 |
Schisis Association |
|
Small for gestational age, Congenital diaphragmatic hernia, Micromelia, Microcephaly, Anencephaly... |
ORPHA:63862 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Prot... |
OMIM:175500 |
Frontorhiny |
|
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu... |
ORPHA:391474 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad ... |
OMIM:152950 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... |
OMIM:616589 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Severe short stature, Broad long bones, Micromelia, Micrognathia, Equin... |
OMIM:224400 |
Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protru... |
OMIM:300963 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop... |
OMIM:620210 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Pes planus, Thick cerebral cortex, Cerebellar vermis hypoplasia, Congenital hip dislocation, Prom... |
ORPHA:357058 |
Erythrokeratodermia Variabilis |
|
Short stature, Tapered finger, Microcephaly, Erythema, Patchy palmoplantar hyperkeratosis, Weight... |
ORPHA:317 |
Stevenson-Carey Syndrome |
|
Prominent nasal tip, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin sequ... |
OMIM:611961 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Talipes, Cleft palate... |
ORPHA:83 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Widely-spaced incisors, Short stature, Microcephaly |
OMIM:300915 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Irregular dentition, Cerebellar vermis hypoplasia, Short stature, Anal stenosis, Atax... |
ORPHA:314679 |
Dystonia-Aphonia Syndrome |
|
Unsteady gait, Gingival overgrowth, Cerebral atrophy, Macroglossia, Gait disturbance, Difficulty ... |
ORPHA:412217 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Depressed nasal bridge, Facial hypotonia, Ataxia, Genu valgum, Hypoplastic... |
ORPHA:309282 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Smooth philtrum, Progressive leukoencephalopathy, Tented upper lip vermilion, Rocker bottom foot,... |
OMIM:617527 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Microcephaly, Flexion contractu... |
ORPHA:544503 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Severe short stature, Progeroid f... |
OMIM:231070 |
Holoprosencephaly 9 |
|
Anophthalmia, Hypoplasia of the maxilla, Partial agenesis of the corpus callosum, Single naris, S... |
OMIM:610829 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ... |
OMIM:119800 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal... |
OMIM:193235 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Depressed nasal bridge, ... |
OMIM:608156 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Biparieta... |
ORPHA:228396 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Cerebral white matter atrophy, Tented upper lip vermilio... |
ORPHA:521426 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Long philtrum, Syndactyly, Depressed nasal bridge... |
ORPHA:97360 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Underdeveloped na... |
ORPHA:284160 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Macroc... |
ORPHA:210548 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Short stature, M... |
OMIM:145420 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Reduced cerebral white matter volume, Underdeveloped nasal alae, Tapere... |
OMIM:615803 |
Neuhauser Syndrome |
|
Pes planus, Arachnodactyly, Depressed nasal bridge, Short stature, Micrognathia, Microcephaly, Ge... |
OMIM:249310 |
Ohdo Syndrome, X-Linked |
|
Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Long philtrum, Depre... |
OMIM:300895 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Calcaneovalgus deformity, High p... |
OMIM:612513 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Macroglossia |
OMIM:274400 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Short stature, Underdeveloped nasal alae, Microcepha... |
ORPHA:2315 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening |
OMIM:241310 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hypoplastic ilia, Wide... |
ORPHA:1860 |
Fanconi Anemia, Complementation Group P |
|
Short stature, Absent thumb, Micrognathia, Short thumb, Bulbous nose, Hypoplasia of the radius, M... |
OMIM:613951 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Short stature, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:610023 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Clubbing of fingers, Gingival bleeding, Left ventricular hypertrophy, Microphthalmia, V... |
ORPHA:335 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl... |
ORPHA:64743 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia |
ORPHA:26137 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Image Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Intrauterine growth retardation |
ORPHA:85173 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Steatorrhea, Short palm, Cutaneous photosensitivity, Bra... |
ORPHA:3217 |
Trigonocephaly 1 |
|
Microcephaly, High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum |
OMIM:190440 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Hypoplasia of the pons, Wide... |
OMIM:616430 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
C Syndrome |
|
Micromelia, Micrognathia, Congenital diaphragmatic hernia, High palate, Biparietal narrowing, Cli... |
ORPHA:1308 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Overlapping toe, Pr... |
OMIM:618316 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Short stature, Esophagea... |
OMIM:619859 |
Marshall-Smith Syndrome |
|
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... |
OMIM:602535 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios, Cleft palate |
OMIM:241850 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, ... |
ORPHA:507 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Shor... |
OMIM:609053 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Microce... |
OMIM:609460 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Anteverted nares, Single transverse palmar crease, Narrow nas... |
OMIM:236500 |
Idiopathic Bronchiectasis |
|
Clubbing, Cachexia |
ORPHA:60033 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Long fingers, Cleft palate, High palate, Hypo... |
OMIM:156610 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Rhizomelia, Short stature, Micrognathia, Microcephaly, Small for gestatio... |
OMIM:614114 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Reduced cerebral white matter volume, Long fibula, Small basal ganglia, Depressed nasal bridge, S... |
OMIM:610442 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... |
OMIM:615665 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, Microcephaly, Open mouth, Porencephalic cyst, Flexion contractu... |
ORPHA:2836 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Short stature, Camptodactyly of finger, Abnormal dental morphology, Recu... |
ORPHA:217093 |
Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Depressed nasal bridge, Abnormal dental enamel morphology, Short stature,... |
ORPHA:2323 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Bilateral single transverse palmar creases, Camptodactyly of finger, Intesti... |
OMIM:244300 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Crumpled long bones, Short stature, Metaphyseal widening, Abnormal femoral neck/he... |
ORPHA:2788 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Prominen... |
OMIM:210710 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pigmentary retinopathy... |
OMIM:253250 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenome... |
OMIM:230800 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... |
ORPHA:99931 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hypo... |
OMIM:215140 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Talipes, Pos... |
OMIM:619879 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial hand polydactyly... |
OMIM:611134 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left at... |
ORPHA:57777 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Micrognathia, Postnatal growth retardation, Prominent nose, Gingival overgrowth, Macroglossia, Hi... |
ORPHA:96191 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 to... |
OMIM:609625 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Congenital Myopathy 22B, Severe Fetal |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Flexion contracture, High palate, Shor... |
OMIM:620369 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Diffuse telangiectasia, Concave nasal ridge, High palate, P... |
OMIM:170100 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ... |
OMIM:614749 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Prominent nose, Basal ganglia calcification, Flexion contracture, Premat... |
OMIM:256040 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Thin upper lip vermilion, Anteverted nares, Microcephaly, Inability to w... |
OMIM:103050 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Abs... |
ORPHA:899 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Short stature, Prominent nasal bridge, Microcephaly, Protruding tongue, Dyspla... |
OMIM:619179 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Cerebral calcification, Talipes, Micrognathia, Microcephaly, Bu... |
ORPHA:46059 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Fanconi Anemia, Complementation Group W |
|
Absent thumb, Microcephaly, Hypoplasia of the radius, Growth delay, Abnormal radial ray morpholog... |
OMIM:617784 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Underdeveloped nasal alae, Prominent nose, Microcephaly, Microdontia, Disproportionat... |
ORPHA:2637 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Delayed epiphyseal ossification, Genu varum, Flared metaphysis, Coxa vara, Thin vermi... |
OMIM:602557 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c... |
OMIM:611773 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypo... |
ORPHA:782 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Depressed nasal bridge, Intestinal malrotation, Congenital diaphragmat... |
OMIM:222448 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa... |
OMIM:613153 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Severe short stature, Micromelia, Coxa vara |
ORPHA:168555 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Hypoplasia of the ... |
OMIM:214800 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, A... |
OMIM:612651 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Short stature, Camptodactyly of finger, Abnormal dental morphology, Recu... |
ORPHA:217085 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi... |
OMIM:234100 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Short stature, Camptodactyly of finger, Abnormality of the hum... |
ORPHA:3138 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Growth delay, Macroglos... |
ORPHA:90674 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ataxia, Microcephaly, Protruding tongue, Inability to walk, Gait ataxia, Choreoathetosi... |
OMIM:619580 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue, Microcephaly |
DECIPHER:52 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Narrow grea... |
OMIM:312870 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... |
ORPHA:306542 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
Greenberg Dysplasia |
|
Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Severe short-limb dwarfi... |
ORPHA:1426 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Clinodactyly of the 5th fin... |
OMIM:167730 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Microcephaly, Postnatal growth retardation, Cleft palate, Hypopl... |
ORPHA:2728 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... |
OMIM:618495 |
Intestinal Dysmotility Syndrome |
|
Weight loss, High palate, Pes valgus, Failure to thrive, Broad philtrum |
OMIM:620045 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... |
OMIM:106260 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Prominent nasal bridge, Microcephaly, Long nose, Postnatal gro... |
OMIM:619184 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Submucous cleft soft palate, Micrognathia, Inability to w... |
ORPHA:168572 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Holoprosencephaly 7 |
|
Partial agenesis of the corpus callosum, Hypoplastic nasal septum, Hypoplasia of the brainstem, A... |
OMIM:610828 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Proportionate short stature, Micrognathia, Underdeveloped nasal ala... |
ORPHA:2108 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla... |
ORPHA:251061 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... |
OMIM:614091 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Depres... |
OMIM:618019 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Depressed nasal bridge, Anteverted nares, Short stature, Abnormal thumb morpholog... |
ORPHA:2719 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, High palate, Clinodact... |
ORPHA:2059 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Short stature, Micrognathia, Macrocephaly, Clinodactyly of the 5th finger,... |
OMIM:617306 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ... |
ORPHA:2414 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... |
OMIM:118650 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Microcephaly, Hip dislocation, Wide mouth, Long philtrum, Short nose, Fai... |
OMIM:608776 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Hypoplasia of the maxilla... |
ORPHA:2588 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Renal insufficiency, Epistaxis, Abn... |
ORPHA:33226 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Shor... |
ORPHA:261236 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... |
ORPHA:2554 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Rhizomelia, Absent nasal bridge, Mesomelia, Broad t... |
ORPHA:171866 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Short stature,... |
OMIM:218040 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth |
OMIM:300143 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Ataxia, Short stature, Depressed nasal ridge, Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Microgn... |
OMIM:614080 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... |
ORPHA:520 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta... |
OMIM:213980 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... |
OMIM:112350 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Congenital hip dislocation, Ataxia, Wi... |
ORPHA:457279 |
Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Syndactyly, Short stature, Elbow contracture, Small for gestational age, P... |
OMIM:616489 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Short stature, Small ... |
OMIM:616229 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Gro... |
OMIM:234050 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ... |
OMIM:618914 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Micrognath... |
ORPHA:37553 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... |
ORPHA:3107 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Congenital d... |
OMIM:601803 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Cardiac arrest |
ORPHA:77260 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... |
ORPHA:77259 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing... |
ORPHA:2021 |
Opsismodysplasia |
|
Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Metaphyseal cupping, Hypo... |
OMIM:258480 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Diastasis recti, Micrognathia, Hypoplasia of the maxill... |
OMIM:608149 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pes planus, Anteverted nares, Arachnodactyly, Genu recurvatum, Micrognathia, Hypoplasia of the ma... |
OMIM:182212 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p... |
OMIM:302960 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Malar flattening, Neonatal short-limb short... |
OMIM:600972 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Wide nose, Short stature, Prominent nasal bridge, Hypoplas... |
ORPHA:50814 |
Congenital Rubella Syndrome |
|
Short stature, Microcephaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal m... |
ORPHA:290 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Short stature, Genu recurvatum, Downturned corners of mouth, Slender long bone,... |
ORPHA:1185 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Talipes equinovarus, Microcephaly |
OMIM:150260 |
Lhermitte-Duclos Disease |
|
Ataxia, Macroglossia, Hand polydactyly, Macrocephaly, Polymicrogyria |
ORPHA:65285 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ... |
OMIM:256520 |
Jeune Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... |
ORPHA:474 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Congenital diaphragmatic hernia, Underdeveloped nasal alae... |
ORPHA:250999 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Single transv... |
OMIM:612292 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy... |
OMIM:618454 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Short toe,... |
OMIM:269860 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... |
OMIM:613451 |
Opsismodysplasia |
|
Severe short stature, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pu... |
ORPHA:2746 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Coloboma, Atrial septal defect,... |
OMIM:618652 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, High, narrow palate, Increased head circumference, Short philtru... |
OMIM:300967 |
Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, ... |
OMIM:602361 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal ala... |
ORPHA:228390 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Pulmonary venous hypertension, Enl... |
ORPHA:79128 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Depressed nasal bridge, Optic nerve hypoplasia, Overweight, Delayed proximal ... |
ORPHA:226307 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Short femur, Limited elbow movement, Micrognathia, Abnormal foot morphology, Dispr... |
ORPHA:94068 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Short stature, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, M... |
OMIM:251270 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Optic disc hypoplasia, Anteverted nares... |
ORPHA:233 |
Majeed Syndrome |
|
Cachexia, Malabsorption, Flexion contracture, Weight loss, Failure to thrive, Metaphyseal irregul... |
ORPHA:77297 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Trisomy 13 |
|
Anophthalmia, Median cleft lip, Bilateral single transverse palmar creases, Abnormality of the de... |
ORPHA:3378 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Micrognathia, Microcephaly, ... |
OMIM:616258 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, M... |
ORPHA:261272 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Ataxia, Adenoiditis, Avascular necrosis of the capital femoral epiphys... |
ORPHA:581 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Anencephaly, Cleft ... |
OMIM:603194 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Fibular aplasia |
OMIM:218550 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Short stature, Limited elbow move... |
OMIM:617809 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Cerebral calcification, Intestinal malrotation, Microgna... |
ORPHA:3035 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Hypoplasi... |
OMIM:612289 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, P... |
OMIM:180849 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Congenital diaphragmatic hernia, Wide anterior fo... |
ORPHA:2143 |
Cockayne Syndrome B |
|
Mandibular prognathia, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand,... |
OMIM:133540 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis... |
ORPHA:570 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Ulnar deviation of the hand, Short stature, Proximal placement of thumb, Long no... |
OMIM:620113 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Orofacial cleft, Microphthalmia, Congenital muscular dystrophy, Type II li... |
ORPHA:324416 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Cari... |
OMIM:277440 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Rauch-Steindl Syndrome |
|
Depressed nasal bridge, Short stature, Miscarriage, Micrognathia, Postnatal growth retardation, M... |
OMIM:619695 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Branchiogenic-Deafness Syndrome |
|
Short stature, Abnormal foot morphology, Trismus, Submucous cleft hard palate, Short distal phala... |
OMIM:609166 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Short stature, Small for gestational age, Microcephaly,... |
OMIM:601675 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... |
OMIM:163400 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Microcephaly |
OMIM:200130 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate,... |
OMIM:611561 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Br... |
OMIM:277600 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Microm... |
ORPHA:1675 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Clinodact... |
OMIM:244450 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Micrognathia, Unsteady gait, Cerebral atrophy, Short nose |
OMIM:256600 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Sweeney-Cox Syndrome |
|
Micrognathia, High palate, Short philtrum, 2-5 toe syndactyly, Median cleft palate, 2-4 finger sy... |
OMIM:617746 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Microvesicular hepat... |
OMIM:212140 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Short stature, Arachnodactyly, Micrognathia, Microcephaly, Hiatus hernia, Narr... |
OMIM:617729 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Depressed nasal bridge, Megalencephaly, Wide anterior fontanel,... |
OMIM:616482 |
Dubowitz Syndrome |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High palate, Clinodactyly ... |
OMIM:223370 |
Double Outlet Right Ventricle |
|
Cyanosis, Depressed nasal bridge, Short stature, Intestinal malrotation, Submucous cleft hard pal... |
ORPHA:3426 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Depressed nasal bri... |
OMIM:300990 |
Stickler Syndrome, Type I |
|
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Micrognathia, Irregular femoral epiphys... |
OMIM:108300 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypoplasia of the brainstem, Widely spaced teeth, Short stature, Cleft soft palate, Ataxia, Taper... |
ORPHA:268261 |
Cornelia De Lange Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragmatic hernia, Downturne... |
ORPHA:199 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Ataxia, Death in childhood, Macroglossia, Macrocephaly |
OMIM:268800 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Depressed nasal bridge, Tapered finger, Microcephaly, Broa... |
OMIM:619680 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisor... |
ORPHA:2063 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin... |
ORPHA:794 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Microcephaly, Bulbous nose... |
ORPHA:99776 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology,... |
ORPHA:2095 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Tibial bowing, Abnormal pelvic ... |
OMIM:166210 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Abnormal basal ganglia morphology, Cerebral atr... |
ORPHA:391428 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Cardiac arrest, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Tubul... |
ORPHA:139402 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femoral metaphys... |
ORPHA:168549 |
Kabuki Syndrome 2 |
|
Natal tooth, Short stature, Micrognathia, Broad nasal tip, Postnatal growth retardation, Microcep... |
OMIM:300867 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Lower limb muscle weakness, Limb-girdle muscle weakness, Rhabdomyolysis, Macroglos... |
OMIM:251900 |
Oculo-Palato-Cerebral Syndrome |
|
Short stature, Microcephaly, High, narrow palate, Small hand, Cleft palate, Aplasia/Hypoplasia of... |
ORPHA:2714 |
Cat-Eye Syndrome |
|
Short stature, Hip dysplasia, Microphthalmia, Anal atresia, Intrauterine growth retardation |
ORPHA:195 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... |
OMIM:211380 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Short tibia, Da... |
ORPHA:356961 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose |
OMIM:300581 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy |
ORPHA:79292 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice... |
ORPHA:91547 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Classic Mycosis Fungoides |
|
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of... |
ORPHA:1765 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Mild sh... |
OMIM:620292 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Short stature, Microcephaly, Micrognathia, Lower limb asymmetry, Cleft palate, Upper limb asymmet... |
ORPHA:2505 |
Thyroid Hypoplasia |
|
Growth delay, Macroglossia, Jaundice, Short stature |
ORPHA:95720 |
Fanconi Anemia, Complementation Group R |
|
Anal atresia, Microcephaly, Absent thumb, Agenesis of permanent teeth, Growth delay, Microphthalm... |
OMIM:617244 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Short stature, Small for gestational age, Failure to thrive in infancy, Microce... |
OMIM:618891 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Anteverted nares, Prominent nasal bridge, Proportionate short stature, Down-sloping s... |
OMIM:227330 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater sciatic notch, S... |
OMIM:250220 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... |
OMIM:619005 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Thin upper lip vermilion, Anteverted nares, Sandal gap, High, narrow palate, Subm... |
OMIM:612863 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Abnormality of the dentition, Car... |
ORPHA:93 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f... |
ORPHA:1449 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... |
ORPHA:139471 |
Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Coxa valga, Protruding tongue, Gingival overgrowth, Cerebral atrophy, Hypoplastic vertebr... |
OMIM:230600 |
Dravet Syndrome |
|
Pes planus, Progressive gait ataxia, Pes valgus, Limited knee extension, Cyanotic episode, Global... |
ORPHA:33069 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Megalencephaly, ... |
OMIM:613603 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Tractional retinal detachment |
OMIM:601813 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... |
OMIM:301044 |
Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Anteverted nares, Choanal atresia, Micrognathia, Postnatal growth r... |
ORPHA:494344 |
Alpha-Mannosidosis, Adult Form |
|
Macroglossia, Subcortical cerebral atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:309288 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tented upper lip vermilion, Short philtrum, Hypoplasia of the corpus callosum, Short nose, Cerebr... |
ORPHA:85277 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Oligodontia, High palate, Short philt... |
OMIM:309590 |
Diamond-Blackfan Anemia 8 |
|
Short stature, Wide nasal bridge, Growth delay, Short nose, Thick upper lip vermilion |
OMIM:612563 |
Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... |
OMIM:139090 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Short stature, Micrognathia, Open bi... |
ORPHA:1974 |
Infantile Krabbe Disease |
|
Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Cachexia, Decreased head... |
ORPHA:206436 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Meckel diverticulum, Failure to thrive, Short stature, Carious teeth, Pyloric stenos... |
OMIM:616395 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Myocarditis, Leukocytosis,... |
ORPHA:829 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat... |
OMIM:600649 |
Tetraamelia-Multiple Malformations Syndrome |
|
Anal atresia, Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Missing... |
ORPHA:3301 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Pes planus, Arachnodactyly, Dental crowding, Protrusio acetabuli, Microg... |
ORPHA:558 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney, Splenic cyst |
OMIM:618188 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Cleft soft palate, Rocker bottom foot, Micrognathia, Cutaneous fi... |
OMIM:606851 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala... |
OMIM:263650 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Optic nerve hypoplasia, Cleft soft palate, Microcephaly, Intestinal malrotation, F... |
OMIM:619321 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Depressed nasal bridge, Short stature, Micrognathia, Underdeveloped nasal... |
OMIM:604173 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Multiple joint contractures, Single transverse palmar... |
ORPHA:536471 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Anteverted nares, Prominent nasal bridge, Microcephaly, Macrocephaly, Hypoplasia of the brainstem... |
ORPHA:500159 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Prematurely aged appearance, Short stature, Cachexia, Microcephaly, Ataxia, Urticaria, Cutaneous ... |
ORPHA:220295 |
Hereditary Bullous Dystrophy, Macular Type |
|
Short stature, Tapered finger, Microcephaly, Growth delay, Short finger, Acrocyanosis |
ORPHA:1867 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy, Ascites |
OMIM:614702 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal steno... |
ORPHA:1790 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Severe short stature, Ataxia, Proportionate short stature, Loss of ambul... |
ORPHA:3208 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout... |
OMIM:601353 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... |
OMIM:618774 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal defect, Uret... |
ORPHA:79328 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Re... |
OMIM:266500 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Aicardi-Goutieres Syndrome 1 |
|
Intracerebral periventricular calcifications, Short stature, Microcephaly, Basal ganglia calcific... |
OMIM:225750 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Williams Syndrome |
|
Micrognathia, Rectal prolapse, Dysmetria, Clinodactyly of the 5th finger, Microdontia, Prematurel... |
ORPHA:904 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Short stature, Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, L... |
OMIM:619318 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... |
OMIM:616050 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Microcephaly, Focal polymicrogyria, Dysplastic cor... |
OMIM:619103 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Short metacarpal, Scapular winging, Anteverted nares, ... |
OMIM:272460 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed nasal bridge, Long nose, Cerebr... |
OMIM:618590 |
Mandibuloacral Dysplasia |
|
Dental crowding, Increased subcutaneous truncal adipose tissue, Micrognathia, Abnormally large gl... |
ORPHA:2457 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Coach Syndrome 1 |
|
Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen... |
OMIM:216360 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Esophageal atresia, Wide nasal bri... |
OMIM:614083 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Wide nose, Short stature, Recurrent upper respiratory tract infections, Temporomand... |
ORPHA:580 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal de... |
ORPHA:568 |
Insulin-Like Growth Factor I Deficiency |
|
Short stature, Micrognathia, Postnatal growth retardation, Microcephaly, Decreased body weight, C... |
OMIM:608747 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa... |
OMIM:617247 |
Achondrogenesis Type 2 |
|
Short stature, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pi... |
ORPHA:93296 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Wolman Disease |
|
Growth delay, Esophageal varix, Cachexia, Steatorrhea |
ORPHA:75233 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastr... |
ORPHA:2538 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal large intestine morphology, Esophageal neoplasm, Clubbing of toes, Weight loss, Palmopla... |
ORPHA:2198 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Death in infancy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Pachygyria, Partial agen... |
OMIM:614643 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Ataxia, Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Failure to th... |
OMIM:602473 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Agenesis of corpus callosum, Bifid uvula, Arachnodactyly, ... |
ORPHA:2461 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Antev... |
ORPHA:175 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p... |
OMIM:617140 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Atelis Syndrome 2 |
|
Pes planus, Single transverse palmar crease, Micrognathia, Prominent nose, Microcephaly, Bulbous ... |
OMIM:620185 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Small for gestational age, Micrognathia, Postnatal growth reta... |
ORPHA:397590 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Clinodactyly o... |
OMIM:115150 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thin upper lip vermilion, Rhizomelia, Short stature, Abnormality ... |
ORPHA:319182 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom... |
OMIM:153670 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Severe short stature, Broad long bones, Micromelia, Microcephaly, Hypoplasia of... |
ORPHA:1422 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Skeletal muscle atrophy, Intestinal pseudo-obstruction, Cache... |
ORPHA:1876 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormal dental morphology, A... |
ORPHA:861 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Short stature, Underdeveloped nasal alae, Glossoptosis, Biparietal narrowing, C... |
ORPHA:2031 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Microphthalmia, Agenes... |
ORPHA:1528 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... |
OMIM:135750 |
Down Syndrome |
|
Sandal gap, Short stature, Aganglionic megacolon, Protruding tongue, Hypoplastic iliac wing, Sing... |
OMIM:190685 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Depressed nasal bridge, Unilateral cleft... |
ORPHA:1299 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Rectal prolapse, Short metatarsal, High palate, Short metacarpal, Depressed nasa... |
OMIM:617157 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Abnormal pancreas... |
ORPHA:116 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Preaxial ha... |
OMIM:236680 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal ... |
OMIM:105650 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Rhegmatogenous retinal detachment, Vitreous hemorrhage, Abnormal optic di... |
ORPHA:891 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Underdeveloped nas... |
OMIM:209885 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, S... |
ORPHA:468631 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Pes planus, Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Cubi... |
OMIM:601552 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Long nose, Prominent nose, Abnormal finger morphology, Short palm, Clin... |
ORPHA:2636 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Death in early adulthood, Hypointensity of cerebral white matter on MRI, Int... |
OMIM:603041 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Dispropo... |
ORPHA:2655 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c... |
ORPHA:790 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... |
OMIM:194080 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Micrognathia, Postax... |
OMIM:617866 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia ... |
OMIM:608328 |
Osteogenesis Imperfecta, Type X |
|
Relative macrocephaly, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromel... |
OMIM:613848 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Cutis marmorata, Narrow mouth, Hypoplasia of the corp... |
OMIM:613735 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Missing rib... |
OMIM:147791 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Prominent nose, Short philtrum, Clinodactyly of th... |
OMIM:301022 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contra... |
OMIM:300166 |
Juvenile Huntington Disease |
|
Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Gait ataxia, Weight loss, Abnormal cere... |
ORPHA:248111 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Depressed nasal bridge, Short stature, Lower limb asymmetry, Flexion contracture, Neonatal epiphy... |
ORPHA:35173 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Iron deficiency anemia, Abno... |
ORPHA:1667 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Recurrent upper respiratory tract infections, Cyanosis |
OMIM:263000 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Underdeveloped nasal al... |
ORPHA:894 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Short stature, Failure to ... |
ORPHA:1340 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Cowden Syndrome |
|
Short stature, Ataxia, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar kerat... |
ORPHA:201 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Growth delay, Choreoathetosis, Microphthalmia, Global brain atrophy |
OMIM:308350 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ... |
ORPHA:740 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Smooth philtrum, Thin upper lip vermilion, Anteverted n... |
ORPHA:261323 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus |
ORPHA:2476 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Cerebellar hypoplasia, Convex nasal ridge |
ORPHA:207 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of th... |
ORPHA:261112 |
Coffin-Siris Syndrome |
|
Simplified gyral pattern, Thick nasal alae, Agenesis of corpus callosum, Dandy-Walker malformatio... |
ORPHA:1465 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... |
ORPHA:39041 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Secondary microcephaly, Cerebellar hypoplasia, Neonatal death, Microphthalmia |
OMIM:613730 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Microdontia, Bifid uvula, ... |
OMIM:613458 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Micromelia, Short stature, Postnatal growth retardation, Si... |
OMIM:614800 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Growth delay, Macroglossia, Short stature, Microcephaly |
ORPHA:93947 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Missing ribs, Microcephaly, Cleft upper lip, ... |
ORPHA:50 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E... |
ORPHA:549 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Talipes, Postnatal growth retardation, Abnormal tongue morphology, Aplasia/Hypo... |
ORPHA:531151 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul... |
OMIM:616580 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Talipes calcaneovalgu... |
ORPHA:818 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost... |
OMIM:134780 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, High p... |
OMIM:619472 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Shprintzen-Goldberg Syndrome |
|
Pes planus, Bowing of the long bones, Failure to thrive, Arachnodactyly, Anteverted nares, Campto... |
ORPHA:2462 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,... |
OMIM:613870 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... |
OMIM:617402 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia, Microcephaly, Disproportionate short-limb short stature, Aplasia/Hypoplasia of the ce... |
ORPHA:2772 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan... |
OMIM:615108 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Choanal stenosi... |
ORPHA:95699 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Hypotension, Arrhythmia, ... |
ORPHA:188 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae |
OMIM:613456 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Clinodacty... |
ORPHA:264450 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal... |
ORPHA:3318 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Long nose, Carious teeth, Microcephaly, Velopharyngeal insufficiency, Dental malocc... |
OMIM:613680 |
Fryns Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Large f... |
OMIM:229850 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Vitreous hemorrhage, Pigmentary retinopathy, Retinal neovascularization |
OMIM:193220 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger synd... |
OMIM:603467 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Tapered f... |
OMIM:601088 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum... |
ORPHA:314655 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Short stature, Micrognathia, Cariou... |
OMIM:616734 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Trisomy 20P |
|
Finger syndactyly, Anteverted nares, Camptodactyly of finger, Talipes, Micrognathia, Abnormality ... |
ORPHA:261318 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Hyphema, Iris coloboma |
OMIM:221900 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, Single transverse palmar ... |
OMIM:618619 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Cortical dyspl... |
OMIM:613406 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper li... |
OMIM:109400 |
Diamond-Blackfan Anemia |
|
Small for gestational age, Depressed nasal bridge, Short stature, Cleft soft palate, Micrognathia... |
ORPHA:124 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Failure to thrive, Cutis marmorata, Talipes, Abnormality of the... |
ORPHA:974 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Cerebellar hypoplasia, Type II lissencephaly, Muscular dystrophy |
OMIM:614830 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Bowing of the legs, Abnormality of the dentition, Stillbirth, Short... |
OMIM:241500 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... |
OMIM:122880 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilat... |
OMIM:619122 |
Thauvin-Robinet-Faivre Syndrome |
|
Pes planus, Bowing of the legs, Large for gestational age, Pedal edema, Macroglossia, Large hands... |
OMIM:617107 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegaly, Exercise-induced myoglob... |
OMIM:201475 |
Acromelic Frontonasal Dysostosis |
|
Preaxial polydactyly, Patellar hypoplasia, Short tibia, Cavum septum pellucidum, Agenesis of corp... |
OMIM:603671 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Short stature, Microcephaly, Esophageal atresia, Tracheoesophageal fistul... |
OMIM:301030 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Microcephaly, Talipes, Postax... |
ORPHA:2166 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Prematurely aged appearance, Micromelia, Clubbing of ... |
ORPHA:1318 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... |
OMIM:616145 |
Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Ataxia, Abnormal foot morphology, Anosmia, Hammertoe, ... |
ORPHA:773 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Wide nose, Macrodactyly, Tapered finger, Abnormality of the den... |
ORPHA:963 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose |
ORPHA:2983 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Large for gestat... |
ORPHA:77301 |
Geleophysic Dysplasia 1 |
|
Short palm, Anteverted nares, Camptodactyly of finger, Short stature, Coxa valga, Short foot, Joi... |
OMIM:231050 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Anosmia, Singl... |
ORPHA:2250 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Facial palsy, Furrowed tongue |
ORPHA:2483 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Wide nose, Macrodactyly, Tapered finger, Abnormality of the den... |
ORPHA:314769 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Narrow foot, High palate, Short philtrum, Death in childhood... |
OMIM:309500 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral renal agenes... |
OMIM:614576 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Concave nasal ridge, Pro... |
OMIM:118450 |
Rodrigues Blindness |
|
Narrow nasal bridge, Short stature, Ectodermal dysplasia, Microphthalmia, Tooth malposition |
OMIM:268320 |
Pelviscapular Dysplasia |
|
Hypoplastic scapulae, Short femur, Short stature, Congenital hip dislocation, Hypoplastic ilia, H... |
ORPHA:93333 |
Huntington Disease |
|
Caudate atrophy, Inability to walk, Cerebral atrophy, Abnormality of the sense of smell, Weight l... |
ORPHA:399 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Proximal placement ... |
OMIM:304050 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Pr... |
ORPHA:90673 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... |
OMIM:602782 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Progeroid facial appearance, Abnormally large gl... |
ORPHA:435628 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan... |
OMIM:615109 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdontia, Depres... |
ORPHA:536467 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Telangiectasia of the skin, Enlarged kidney |
ORPHA:276280 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, High palate, Prominent palatine ridges, Microretrognathia, Anteverted... |
ORPHA:280633 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme... |
ORPHA:555874 |
Mosaic Trisomy 16 |
|
Syndactyly, Small for gestational age, Single transverse palmar crease, Abnormality of the nose, ... |
ORPHA:1708 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Prominent nasal bridge, Microg... |
ORPHA:1587 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Abnormal d... |
ORPHA:2176 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplasia of the iris, Finger ... |
ORPHA:2092 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteop... |
OMIM:305600 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, High palate, Clinodactyly of ... |
OMIM:616975 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Microcephaly, Hypodontia... |
ORPHA:1236 |
Proteus Syndrome |
|
Decreased muscle mass, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of... |
ORPHA:744 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... |
ORPHA:98849 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Short stature, Failure to th... |
ORPHA:388 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Micrognathia, Esophageal atresia, Hypoplasia of the radius, ... |
ORPHA:3412 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol... |
OMIM:258850 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Leukocytosis, Sple... |
OMIM:615895 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia, Hepatic st... |
OMIM:255120 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Micrognathia, Short palm, Clinodactyly of the 5th finger, Agenesis of corp... |
ORPHA:508498 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90033 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Prominent fingertip pads, M... |
OMIM:615873 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Failure to thrive, Severe short stature, Camptodactyly of finger, Micrognathia, Long nose, Promin... |
ORPHA:3047 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Micrognathi... |
OMIM:261540 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Choanal Atresia |
|
Nasal congestion, Polydactyly, Cyanosis, Chronic sinusitis |
ORPHA:137914 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Holoprosencephaly |
|
Anophthalmia, Congenital diaphragmatic hernia, Deep philtrum, Depressed nasal ridge, Absent nares... |
ORPHA:2162 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Vasculitis, Optic atrophy, Nephrotic syndrome, Renal amyloidosis, Nep... |
ORPHA:575 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Decreased muscle mass, Decreased palmar creases, Tap... |
ORPHA:2953 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia |
ORPHA:99745 |
Aspartylglucosaminuria |
|
Depressed nasal bridge, Anteverted nares, Short stature, Microcephaly, Hypoplastic frontal sinuse... |
OMIM:208400 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Single transverse palmar crease, Prominent nose, Micrognathia, Widely spac... |
OMIM:612474 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... |
ORPHA:480520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Leukoencephalopathy, Hypoplasia of the brainstem,... |
OMIM:615181 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Short stature, Short foot, Cone-shaped epiphysis, Tip-toe gait, Short p... |
OMIM:614185 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Velocardiofacial Syndrome |
|
Short stature, Talipes, Abnormality of the hand, Microcephaly, Underdeveloped nasal alae, Bulbous... |
OMIM:192430 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bon... |
ORPHA:1508 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microcephaly, Flexion contracture, Hypoplasia of the brainstem, Progressi... |
OMIM:615249 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic live... |
ORPHA:540 |
Jacobsen Syndrome |
|
Pachygyria, Agenesis of corpus callosum, Broad columella, Long hallux, Long philtrum, Abnormality... |
ORPHA:2308 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Cerebe... |
ORPHA:284169 |
Al Amyloidosis |
|
Xerostomia, Weight loss, Macroglossia, Abnormal salivary gland morphology, Bruising susceptibility |
ORPHA:85443 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Depressed nasal bridge, Ataxia, Abnormal foot morphology, Postaxia... |
OMIM:608091 |
Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Ataxia, Acrocyanosis, Failure to thrive, Petechiae |
ORPHA:51188 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Severe short stature, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, H... |
OMIM:600092 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Severe short stature, Bowing of the legs, Metaphyseal widening, Disproportionate short stature, F... |
ORPHA:93352 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Short lingual frenulum, Partial anosmia, Total anosmia, Midgut malrotati... |
ORPHA:2326 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Cachexia, Weight loss |
ORPHA:83469 |
Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Tented upper lip vermilion, Postaxial polydactyly, M... |
OMIM:618460 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Depressed nasal bridge, Micromelia, Macrocephaly, Abnormal metaphysis morphology, ... |
ORPHA:93274 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Muscle fiber at... |
OMIM:182250 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Short stature, Choanal atresia, Microcephaly, Esophageal atresia, Submucous cleft hard... |
OMIM:619227 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal... |
ORPHA:809 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Micrognathia, Flexion contracture, Overtubulated long bones,... |
OMIM:275210 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the lower limb, Abnormality of the upper limb, Weight loss |
ORPHA:2023 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocardit... |
ORPHA:292 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru... |
OMIM:601499 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Uveal Melanoma |
|
Retinal detachment, Vitreous hemorrhage |
ORPHA:39044 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Co... |
ORPHA:465508 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, L... |
ORPHA:47612 |
Kapur-Toriello Syndrome |
|
Failure to thrive, Intestinal malrotation, Dysplastic corpus callosum, Bulbous nose, Orofacial cl... |
ORPHA:2328 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Cyanosis, Clubbing, Neonatal death, Failure to thrive |
OMIM:265120 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Microcephaly, Postaxial hand polydactyly, Wide na... |
OMIM:607330 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Cerebellar hypoplasia, Microphth... |
OMIM:218670 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mo... |
OMIM:154500 |
Gapo Syndrome |
|
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, Wide... |
OMIM:230740 |
Whipple Disease |
|
Myositis, Ataxia, Cachexia, Malabsorption, Pedal edema |
ORPHA:3452 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Microcephaly |
OMIM:250800 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Large for gestational age, Obesity, High palate, Biparietal narrowing, Lo... |
OMIM:605309 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... |
OMIM:232300 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Wide nose, Short stature, Aplasia/Hypoplasia of the cerebellum, Stomach can... |
ORPHA:1052 |
Renal And Mullerian Duct Hypoplasia |
|
Severe postnatal growth retardation, Short nose, Micrognathia |
OMIM:266810 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Distal Deletion 15Q |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous... |
ORPHA:1596 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Micronodular cirrhosis, Punctate va... |
OMIM:192315 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum,... |
ORPHA:3455 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... |
ORPHA:228308 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choanal stenosis, Bif... |
OMIM:620186 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Foot p... |
ORPHA:268249 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Meckel Syndrome |
|
Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Talipes, Micrognathia, ... |
ORPHA:564 |
Oromandibular Dystonia |
|
Torticollis, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnormal mandib... |
ORPHA:93958 |
Cadds |
|
Intrauterine growth retardation, Short nose, Abnormal cerebral white matter morphology, Micrognathia |
ORPHA:369942 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Skeletal muscle atrophy, Cyanosis, Ataxia, Microcephaly, Ragged-red muscle fibe... |
OMIM:252010 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegal... |
OMIM:158350 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Multifocal hyperintensity of cerebral white matter on MRI, Facial hypotonia, Macroglossia, Left v... |
ORPHA:308552 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Broad-based gait, Poor wound healing, Cachexia, ... |
ORPHA:2072 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Ctcf-Related Neurodevelopmental Disorder |
|
Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Microdontia... |
ORPHA:363611 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Sternocleidomastoid amyotrophy, Broad nasal tip, Thickened cortex of long bones, Small hand, Depr... |
ORPHA:488434 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Failure to thrive, Abnormal oral mucosa morphology, Micromelia, Abnorm... |
ORPHA:289 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Broad-based gait, Failure to thrive in infancy, Cerebellar hypoplasia |
OMIM:618805 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... |
ORPHA:93325 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Abnormal dental enamel ... |
ORPHA:464 |
Distal Deletion 9P |
|
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose, B... |
ORPHA:1642 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Absent septum pellucidum, Single transverse palmar cre... |
OMIM:613884 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... |
OMIM:619503 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... |
ORPHA:2307 |
Arterial Tortuosity Syndrome |
|
Long palm, Telangiectasia of the skin, Prematurely aged appearance, Arachnodactyly, Rocker bottom... |
ORPHA:3342 |
Scrub Typhus |
|
Abnormal bleeding, Renal insufficiency, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension |
ORPHA:83317 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Lobulated tongue, Agenesis of corpus callosum, Dandy-Walker malformation, Syndactyl... |
OMIM:249000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Calcinosis, Dental crowding, Acroosteolysis of distal phalan... |
OMIM:248370 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Short nose, Depressed nasal bridge, Proportionate short stature |
ORPHA:99688 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cerebellar vermis hypoplasia, Short stature, Cleft upper lip, Cleft palate, Wide mouth... |
ORPHA:1394 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Spondylo-Ocular Syndrome |
|
Pes planus, Aplasia/Hypoplasia of the lens, Short stature, Facial hypotonia, Disproportionate sho... |
ORPHA:85194 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Anal atresia, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Micrognathia, Microcephaly, ... |
OMIM:236670 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb,... |
OMIM:270400 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Nasal polyposis, Cutis marmorata, Intestinal obstruction, Malabsorption, Wei... |
ORPHA:183 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Bent Bone Dysplasia Syndrome 2 |
|
Relative macrocephaly, Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Hypopl... |
OMIM:620076 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Esophageal Atresia |
|
Barrett esophagus, Cyanosis, Choanal atresia, Intestinal malrotation, Small for gestational age, ... |
ORPHA:1199 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath... |
ORPHA:3386 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnorm... |
OMIM:214500 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneo... |
ORPHA:261537 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe... |
OMIM:614921 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
Deeah Syndrome |
|
Death in infancy, Decreased body weight, Overlapping fingers, Short stature, Malabsorption, Narro... |
OMIM:619004 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Low-output congestive heart ... |
ORPHA:565612 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Cyanosis, Left ventricular hypertrophy, Failure to t... |
ORPHA:444013 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormality of the tongue, Weight loss, Tip-toe gait, Gait disturbance, Eye of... |
ORPHA:216866 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Short stature, Bowing o... |
ORPHA:1855 |
Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Absent septum pellucidum, Aganglionic megacolon, Macrocephaly, Growth delay, Sh... |
ORPHA:3339 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ... |
ORPHA:36412 |
Familial Thrombocytosis |
|
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal... |
ORPHA:71493 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Elbow contracture, Ulnar deviation of the wrist, 2-3 toe syndactyl... |
OMIM:618162 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly,... |
OMIM:600901 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... |
OMIM:619314 |
Candidiasis, Familial, 8 |
|
Macroglossia, Cheilitis |
OMIM:615527 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Aphthous ulcer, Ulcerative colitis, Weight loss, Growth delay, Inflammati... |
OMIM:266600 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly... |
OMIM:617914 |
Floating-Harbor Syndrome |
|
Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Microd... |
ORPHA:2044 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Wrinkly Skin Syndrome |
|
Decreased muscle mass, Cerebellar vermis hypoplasia, Congenital hip dislocation, Excessive skin w... |
ORPHA:2834 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Macular degeneration, Macular hemorrhage |
OMIM:603075 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Short stature, Tapered fing... |
ORPHA:1272 |
Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Micrognathia, Absent radius, Rectal fistula... |
OMIM:115470 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Hypo... |
ORPHA:1101 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Megalencepha... |
OMIM:601707 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge... |
OMIM:613812 |
Cog1-Cdg |
|
Smooth philtrum, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Rhizomelia, Coxa valga, ... |
ORPHA:263508 |
Huntington Disease-Like 1 |
|
Dysmetria, Abnormal basal ganglia morphology, Abnormal shoulder morphology, Weight loss, Gait ata... |
ORPHA:157941 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Microcephaly, Subm... |
OMIM:301043 |
Sézary Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Inability to walk, Flexion con... |
ORPHA:365 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Single interphalangeal crease of fifth finger, Dias... |
OMIM:257920 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... |
ORPHA:3044 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneo... |
ORPHA:2152 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Micrognathia, High palate, Clinodactyly of the 5th... |
OMIM:607932 |
Chiari Malformation Type Ii |
|
Limb muscle weakness, Cyanosis, Agenesis of corpus callosum, Ataxia |
OMIM:207950 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Depressed nasal bridge, Tapered finger, Micrognathia, Microcephaly, Small hand,... |
OMIM:620005 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaund... |
ORPHA:90051 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Microphthalmia, Failure to thrive, Polymicr... |
OMIM:612379 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly,... |
OMIM:227650 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Caudate atrophy, Submucous cleft hard palate, Abnormal caudate nucleus morph... |
ORPHA:209908 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular ... |
OMIM:617713 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... |
ORPHA:131 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splen... |
OMIM:615688 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic scapulae, Short stature, Congenital hip dislocation, Hypoplastic ilia, Hypoplastic ac... |
OMIM:169550 |
Fanconi Anemia, Complementation Group C |
|
Short stature, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly,... |
OMIM:227645 |
Pallister-Hall Syndrome |
|
Large for gestational age, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mesoaxial polyd... |
ORPHA:672 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short philtrum, Deat... |
OMIM:619127 |
Congenital Heart Block |
|
Intrauterine growth retardation, Cyanosis |
ORPHA:60041 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Ecchymosis, Short nose, Bruising susceptibility, Short distal ph... |
OMIM:277450 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Weight loss |
ORPHA:1302 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Growth delay, Thick vermilion border, H... |
OMIM:252160 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal tibia morphol... |
ORPHA:666 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Chops Syndrome |
|
Anteverted nares, Short stature, Microcephaly, High, narrow palate, Obesity, Downturned corners o... |
OMIM:616368 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Ataxia, Erythema, Urticaria, Growth delay, Recurrent aphthous stomatitis,... |
ORPHA:343 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar... |
ORPHA:508488 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, T... |
ORPHA:781 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Intestinal fistula... |
ORPHA:709 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy |
OMIM:252900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Renal neutrophilic tubulitis... |
ORPHA:91500 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Aplastic clavicle, Micromelia, Postaxial po... |
OMIM:616546 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Neutropeni... |
ORPHA:391673 |
Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Prolonged neonatal jaundice |
ORPHA:226316 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Hippocampal atrophy, High palate, Depressed nasal bridge, Anteverted nares, Short s... |
OMIM:619325 |
Wilson Disease |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Cirrhosis, Acute hepatitis, Br... |
ORPHA:905 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi... |
ORPHA:668 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of ... |
ORPHA:85165 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Asbestos Intoxication |
|
Hypoxemia, Clubbing of fingers, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduri... |
OMIM:619259 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Crumpled long bones, Rhizomelia, Short stature, Micromelia, Bowing of the legs,... |
OMIM:610682 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis |
ORPHA:2400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Simplified gyral pattern, Downturned corners of mouth, Cerebellar hemi... |
ORPHA:500150 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Degcags Syndrome |
|
Prominent nose, Micrognathia, Premature graying of hair, High palate, Diaphragmatic eventration, ... |
OMIM:619488 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepa... |
OMIM:260920 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Norrie Disease |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Cachexia, Microcephaly, Hypoplasia of the ir... |
ORPHA:649 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Clubbing, Weight loss |
ORPHA:747 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... |
ORPHA:84064 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Prominent nose, Postnatal growth retardation, Microcephaly... |
OMIM:210900 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneo... |
ORPHA:261552 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, Microdontia, S... |
OMIM:613610 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Microcephaly, Cleft upper lip, Postaxial hand polydactyly, 2-3 toe syndactyly, ... |
OMIM:264480 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... |
ORPHA:2673 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Small for gestational age, Absent thumb, Absent radius, Short thumb, Preaxial hand... |
OMIM:227646 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Eosinophilic Fasciitis |
|
Muscular edema, Myositis, Acrocyanosis, Weight loss |
ORPHA:3165 |
1P21.3 Microdeletion Syndrome |
|
Micrognathia, Broad nasal tip, Obesity, Wide mouth, Macrocephaly, Short nose |
ORPHA:293948 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palat... |
OMIM:603457 |
Charge Syndrome |
|
Anophthalmia, Abnormal tibia morphology, Aplasia/Hypoplasia of the cerebellum, Clinodactyly of th... |
ORPHA:138 |
Celiac Disease, Susceptibility To, 1 |
|
Cerebral calcification, Short stature, Ataxia, Postnatal growth retardation, Celiac disease, Stea... |
OMIM:212750 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Recurrent patellar disloc... |
OMIM:615877 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... |
ORPHA:2729 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Dental crowding, Micrognathia, Flexion contracture, Knee flexion cont... |
ORPHA:2020 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... |
ORPHA:2137 |
Thyroid Ectopia |
|
Growth delay, Macroglossia, Jaundice, Short stature |
ORPHA:95712 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ... |
OMIM:618332 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chroni... |
OMIM:249100 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly |
ORPHA:77299 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Cyanosis, Clubbing, Hypoxemia, Neonatal death, Failure to thrive |
OMIM:610921 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... |
ORPHA:2363 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... |
OMIM:616843 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Absent septum pellucidum, Small for gestational age, Microcephaly, Growth... |
OMIM:618500 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Optic disc pallor, Retinal atrophy, Renal insufficiency, Neurogenic bladder, Unilat... |
ORPHA:90324 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Hypoplasia of the maxilla, Flexion contracture, ... |
OMIM:259050 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Malabsorption, Erythema, Abnormality of the tongue, Cheilitis, ... |
ORPHA:37 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... |
ORPHA:293173 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Disproportionate short sta... |
ORPHA:93317 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Short stature, Small for gestational age, Ataxia, Wide mouth, High palate... |
OMIM:300661 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Urticaria, Col... |
ORPHA:37042 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Mild p... |
ORPHA:85408 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red ce... |
OMIM:613179 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... |
ORPHA:508 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... |
OMIM:177850 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphad... |
OMIM:603553 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy... |
OMIM:300842 |
Fraser Syndrome |
|
Cleft ala nasi, Anophthalmia, Dental crowding, Orofacial cleft, High palate, Finger syndactyly, D... |
ORPHA:2052 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature, Cleft palate, Microcephaly |
OMIM:257910 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Hallux valgus, Depressed nasal bridg... |
OMIM:614188 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Deviated nasal se... |
OMIM:123500 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Myocarditis, Cervical lymphadenopathy, Vasculitis, Thr... |
ORPHA:50918 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Left ventric... |
ORPHA:79330 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Broad-based gait, Cerebellar vermis hypoplasia, ... |
OMIM:620330 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Prolonged pr... |
OMIM:267700 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Prematu... |
OMIM:113620 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... |
ORPHA:77261 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Micromelia, Short iliac bones, Depressed nasal ridge, Abnormal iliac w... |
ORPHA:3003 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular atrophy, Reticular pigmentary degeneration, Granular... |
ORPHA:75376 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Prea... |
OMIM:263520 |
Dyskeratosis Congenita |
|
Cerebral calcification, Telangiectasia of the skin, Short stature, Esophageal stenosis, Abnormali... |
ORPHA:1775 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Short stature, Talipes, Microcephaly, Submucous cleft hard palate, Bifid u... |
OMIM:617660 |
Central Retinal Vein Occlusion |
|
Papilledema, Intraretinal hemorrhage, Macular degeneration, Pigmentary retinopathy, Retinal neova... |
ORPHA:411527 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Congenital diaphragmatic he... |
OMIM:614437 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Choanal atresia, Probosc... |
ORPHA:141099 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped... |
ORPHA:920 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... |
ORPHA:534 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl... |
OMIM:619522 |
Retinoblastoma |
|
Retinal calcification, Vitreous hemorrhage, Leukemia |
OMIM:180200 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Downturned corners of mo... |
OMIM:619539 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Micr... |
ORPHA:77298 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin time, Hepatic bridging f... |
OMIM:618641 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Clubbing, Telangiectasia, Hypoxemia, Ischemic stroke |
ORPHA:2038 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Abnormality of the ... |
ORPHA:3206 |
Tetraamelia Syndrome 1 |
|
Anal atresia, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Cleft upper lip, Si... |
OMIM:273395 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Single transverse palmar crease, High, narrow palate, Short philtrum, High palate, Decreased body... |
OMIM:619475 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Abnormal tibia morphology, Upper limb asymmetry, Shoulder girdl... |
ORPHA:64755 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ... |
ORPHA:1454 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Toe syndactyly, Hypoplastic sacrum, Choanal atresia, Absence of ... |
OMIM:604292 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Ataxia, Microcephaly, Cerebral atrophy, Death in childhood, Failure t... |
OMIM:618426 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Pachygyria, ... |
OMIM:607872 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Dend Syndrome |
|
Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho... |
ORPHA:79134 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Dental crowding, Cutaneous finger ... |
OMIM:219000 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Microsporidiosis |
|
Myositis, Sinusitis, Cachexia, Weight loss, Rhinitis, Glossitis |
ORPHA:2552 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... |
OMIM:619426 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:235555 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Corneal neovasculariz... |
OMIM:617388 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Toe syndactyly, Short stature, Bulbous nose, Hypoplasia of the radius, ... |
ORPHA:140952 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Structural foot deformity, Hypoplasia of the brainstem, Clinodactyly... |
ORPHA:464306 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Abnormality of retinal pigmentati... |
ORPHA:167 |
Distal Deletion 19P |
|
Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Short philtrum |
ORPHA:96129 |
Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Ataxia, Progeroid facial appearance, Microcephaly, Basal ganglia calcification, Mi... |
OMIM:610651 |
Slc39A8-Cdg |
|
Short stature, Failure to thrive in infancy, Inability to walk, Elbow flexion contracture, Knee f... |
ORPHA:468699 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Short stature, Malabsorption, Weight loss, Glossoptosis, Failure to thrive |
ORPHA:47 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Short palm, Agenesis of corpus callosum, Dandy-Walker malformation, Lon... |
ORPHA:93271 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Weight loss |
OMIM:606438 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Diastasis recti, Micrognathia, Prominent nose, Submucous cleft hard palate, Wide ... |
OMIM:618971 |
Ollier Disease |
|
Abnormal metaphysis morphology, Micromelia |
ORPHA:296 |
Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatitis, Melena... |
ORPHA:319251 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nose, Anophthalmia, Severe short stature, Abnormal dental enamel morphology, Absent septum p... |
ORPHA:2556 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Progressive flexion contractures, Ataxia, Equinus calcaneus, 2-3 toe sy... |
ORPHA:522077 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Overlapping toe, Microcephaly, Partial agenesis of the corpus callosum |
OMIM:617478 |
Trichothiodystrophy |
|
Multiple joint contractures, Prematurely aged appearance, Cerebral dysmyelination, Hypoplasia of ... |
ORPHA:33364 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short philtrum, Arachnodactyly, Abnormal dental enamel morphology, Short stature, W... |
ORPHA:567 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... |
OMIM:210250 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Weight loss, Inflammation of t... |
ORPHA:324964 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Orofacial cleft, Thin ve... |
ORPHA:1519 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Mucopolysacchariduria, Splenomegaly |
ORPHA:93474 |
Shigellosis |
|
Abscess, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Peritonitis, Urethritis, Cholestas... |
ORPHA:810 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Pes planus, Cleft soft palate, Myopathy, Talipes equinova... |
OMIM:614557 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Failure to thrive, Cyanosis |
ORPHA:91359 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft ha... |
OMIM:157170 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis, Clubbing |
OMIM:610910 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Vater/Vacterl Association |
|
Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Postnat... |
OMIM:192350 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto... |
ORPHA:67 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Anophthalmia, Short stature, Severe short stature, Congenital diaphrag... |
OMIM:601186 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... |
OMIM:619991 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsorption, Oro... |
ORPHA:92050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Increased variability in muscle fiber diame... |
OMIM:616538 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma... |
ORPHA:1572 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Meconium ileus, Knee flexion contracture, Difficulty walking, Hyperintensity of cerebra... |
OMIM:617239 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hy... |
OMIM:222700 |
Mucolipidosis Type Ii |
|
Hip contracture, Short stature, Depressed nasal bridge, Diastasis recti, Limited wrist movement, ... |
ORPHA:576 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Missing ribs, Postnatal... |
OMIM:206900 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Diastasis recti, Intestinal malrotat... |
OMIM:601776 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Lysosomal Acid Lipase Deficiency |
|
Cachexia, Jaundice, Esophageal varix, Weight loss, Steatorrhea, Failure to thrive |
ORPHA:275761 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased mean corpuscular hem... |
ORPHA:90041 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Malabsorption |
ORPHA:33355 |
Brucellosis |
|
Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymphadenopathy,... |
ORPHA:1304 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Microphthalmia, Short stature, Abnormality of the dentition |
ORPHA:1806 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Wide nasal bridge |
OMIM:301018 |
Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Short stature, Small for gestational age, Basal ganglia calcification, Macr... |
OMIM:127000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... |
OMIM:617099 |
Urachal Cyst |
|
Abdominal mass, Abscess, Dysuria, Pyuria, Leukocytosis, Peritonitis, Urachus fistula, Hematuria |
ORPHA:488 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Broad-based gait, Intestinal pseudo-obstruction, Ataxi... |
OMIM:607459 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Depressed nasal bridge, Anteverted nares, Short stature, Celiac disease, Recurrent uppe... |
ORPHA:293987 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Colchicine Poisoning |
|
Renal insufficiency, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Oliguria, ... |
ORPHA:31824 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Pachygyria, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, H... |
OMIM:253280 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Congestive heart failu... |
OMIM:615512 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Cyanosis, Microcephaly |
ORPHA:159 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Hepatospleno... |
OMIM:608233 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... |
ORPHA:3016 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Agyria, Hypoplasia of the pyramidal tract, Flexion contracture, Calf mus... |
OMIM:253800 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Absent septum pellucidum, Ileal atresia, ... |
OMIM:618820 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... |
ORPHA:199302 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia |
OMIM:610125 |
Phacoanaphylactic Uveitis |
|
Tractional retinal detachment, Hyphema, Retinal arteritis |
ORPHA:209959 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje... |
ORPHA:268 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Ataxia, Microcephaly, Erythema, Telangiectasia, Weigh... |
ORPHA:420741 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Short stature, Microcephaly, Conical tooth, E... |
OMIM:308300 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Microcephaly, Cerebral atrophy, Growth delay, Thick vermilion border, Hypoplasia of the corpus ca... |
OMIM:252150 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Cutis marmorata, Microcephaly, Cleft upper lip, Cortical dysplasia, Cleft palate,... |
OMIM:100300 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Congestive heart failure... |
ORPHA:2331 |
Glossopharyngeal Neuralgia |
|
Weight loss, Mandibular pain, Abnormal palate morphology, Tongue pain |
ORPHA:221098 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis, Lymphade... |
ORPHA:342 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Duodenal stenosis, Microphthalmia, Failure to thri... |
ORPHA:2470 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Splenomegaly, Leukocytosis, Vasculitis, Peritonitis, Lymphadenopathy, Abnormal myoc... |
ORPHA:32960 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypoxemia, Clubbing, Weight loss |
ORPHA:79127 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cholest... |
OMIM:300972 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Cerebral atrophy |
OMIM:261680 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomega... |
ORPHA:14 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... |
OMIM:105210 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Anal stenosis, Hypoplasia of the maxilla, Wide nasal br... |
OMIM:180500 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Ren... |
OMIM:617913 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Renal insufficiency, Sudden cardiac death |
ORPHA:764 |
Xeroderma Pigmentosum, Complementation Group D |
|
Ataxia, Microcephaly, Telangiectasia, Choreoathetosis, Microphthalmia, Cutaneous photosensitivity |
OMIM:278730 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Failure to thrive, Cyanosis, Clubbing |
OMIM:610913 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... |
OMIM:609049 |
Yellow Fever |
|
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Anuria, Renal insufficiency, Supraven... |
ORPHA:99829 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Lip telang... |
OMIM:613471 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Macular atrophy, Microvesicular hepati... |
OMIM:619418 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Cleft palate, Cleft upper lip, Micrognathia |
OMIM:153400 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia |
OMIM:239200 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Failure to thrive, Agenesis of corpus callosum, Delayed eruption of primary teeth |
OMIM:300952 |
Mowat-Wilson Syndrome |
|
Prominent nasal tip, Delayed eruption of teeth, Short stature, Aganglionic megacolon, Microcephal... |
OMIM:235730 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate, Single transverse palmar crease |
OMIM:619053 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... |
OMIM:611881 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Cutaneous photosensitivity, Palmoplantar keratoderma |
ORPHA:312 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl... |
OMIM:617666 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,... |
ORPHA:171 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Hypercapnia, Ataxia, Weight loss, Abnormal cerebral white matt... |
OMIM:164310 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Prolon... |
ORPHA:30391 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Clubbing of fingers, Cyanosis, Pedal edema |
ORPHA:199241 |
Poems Syndrome |
|
Metaphyseal sclerosis, Clubbing of fingers, Acrocyanosis, Weight loss |
ORPHA:2905 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Obesity |
ORPHA:363741 |
Encephalocraniocutaneous Lipomatosis |
|
Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Cerebellar hypoplasia, Hypoplasia... |
OMIM:613001 |
Pemphigus Vulgaris |
|
Urticaria, Weight loss, Abnormal oral cavity morphology |
ORPHA:704 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Obesity |
OMIM:601794 |
Aicardi-Goutières Syndrome |
|
Myositis, Cerebral calcification, Cutis marmorata, Short stature, Multiple joint contractures, Mi... |
ORPHA:51 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Clubbing of toes, Clubbing of fingers, Left ventricular hypertrophy, Failure to thrive |
ORPHA:99106 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Weight loss, Digital flexor tenosynovitis, Interphalan... |
OMIM:180300 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice |
ORPHA:676 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, High palate, Depressed nasal bridge, Wide nasal bridge |
OMIM:110100 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Nephroblastoma, Cardiomegaly, Optic atrophy, Coloboma, Abnormal cardiac septum m... |
ORPHA:97297 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Nephrocalcinosis |
ORPHA:53715 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha... |
OMIM:248450 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Wrist sw... |
OMIM:309000 |
Pseudomyxoma Peritonei |
|
Intestinal obstruction, Weight loss, Inflammation of the large intestine |
ORPHA:26790 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Gastritis, Facial palsy, Cerebral edema |
ORPHA:31826 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Single transverse palmar crease, Gait disturbance, Macrocephaly, Short nose |
OMIM:614863 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Flexion contracture, Premature graying of hair, Microdontia, Clinodactyly of the... |
OMIM:194050 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Single tr... |
OMIM:309801 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Genu recurvatum, Porencephalic cyst, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:2612 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:619377 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Classical Ehlers-Danlos Syndrome |
|
Pes planus, Abnormality of the temporomandibular joint, Prematurely aged appearance, Phalangeal d... |
ORPHA:287 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Weight loss, Hypoxemia, Clubbing of fingers, Stippled calcification in carpal bones, Ox... |
ORPHA:60025 |
Primary Hyperoxaluria |
|
Failure to thrive, Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental... |
ORPHA:416 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, Long fibula, Biparietal narrowing, Abnormal metaphysis morp... |
ORPHA:935 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... |
OMIM:187300 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ... |
OMIM:606721 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... |
OMIM:619487 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Weight loss, Shuffling gait, Hyposmia, Lewy bodies, Cerebral cortical atrophy, Hypomimi... |
ORPHA:411602 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly, Mucosal telangiectasiae |
ORPHA:2463 |
Gerstmann-Straussler Disease |
|
Neurofibrillary tangles, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia, Lower limb muscle... |
OMIM:137440 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Ataxia, Weight loss |
ORPHA:79242 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Macroglossia |
OMIM:218700 |
Holoprosencephaly 1 |
|
Short stature, Proboscis, Microcephaly, Aplasia of the nose, Cerebellar hypoplasia, Microphthalmi... |
OMIM:236100 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Malabsorption, Weight loss, Protein-losing enteropathy, Steatorrhea |
ORPHA:2070 |
Bullous Pemphigoid |
|
Urticaria, Erythema, Weight loss |
ORPHA:703 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anophthalmia, Anteverted nares, Severe short stature, Microcephaly, Wide nasal bridge,... |
ORPHA:2526 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Townes-Brocks Syndrome |
|
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Agenesis of corpus c... |
ORPHA:857 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Non-Functioning Paraganglioma |
|
Weight loss, Flushing |
ORPHA:94080 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola... |
OMIM:309800 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... |
ORPHA:29073 |
Lynch Syndrome |
|
Intestinal polyposis, Death in infancy, Death in early adulthood, Malabsorption, Flexion contract... |
ORPHA:144 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent upper and lower respiratory tract infections, Failure to thrive in infancy, Proportiona... |
ORPHA:171876 |
Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Weight loss |
ORPHA:767 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss |
ORPHA:65682 |
Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria |
ORPHA:268943 |
Perry Syndrome |
|
Short stepped shuffling gait, Akinesia, Weight loss |
OMIM:168605 |
Giant Cell Arteritis |
|
Ataxia, Epistaxis, Recurrent pharyngitis, Weight loss, Glossitis |
ORPHA:397 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Multiple... |
ORPHA:1662 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Pedal edema, Weight loss |
ORPHA:168811 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Cardiomegaly, Pericardial ... |
ORPHA:51608 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Short stature, Anteverted nares, High palate, Short nose, Bruising susc... |
OMIM:609942 |
Yao Syndrome |
|
Xerostomia, Oral ulcer, Weight loss |
OMIM:617321 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Colo... |
OMIM:619534 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... |
OMIM:245600 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Depressed nasal bridge, Short stature, Small for gestational age, Microceph... |
OMIM:613355 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypoxemia, Generalized abnormality of skin, Weight loss |
ORPHA:2902 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Congenital Tracheomalacia |
|
Cyanosis, Esophageal atresia, Recurrent upper respiratory tract infections, Tracheoesophageal fis... |
ORPHA:95430 |
Familial Dysautonomia |
|
Growth delay, Acrocyanosis, Ataxia, Gait disturbance |
ORPHA:1764 |
Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia |
OMIM:259770 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Acrocyanosis, Hypogeusia |
OMIM:223900 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Weight loss |
ORPHA:160148 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Lip telangiectasia, Tong... |
OMIM:610655 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Fatal Familial Insomnia |
|
Cerebral cortex with spongiform changes, Ataxia, Weight loss |
OMIM:600072 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia |
OMIM:612109 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Tracheoesophageal fistula, Abnormal skeletal muscle morphology |
ORPHA:142 |
Polymyositis |
|
Weight loss, Gait disturbance, Abnormal muscle fiber morphology |
ORPHA:732 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxilla, Cleft up... |
OMIM:164210 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Kaposi Sarcoma |
|
Abnormality of the lower limb, Weight loss |
ORPHA:33276 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hy... |
ORPHA:77293 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... |
OMIM:181000 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps, Weight loss, Stomach cancer, Giant h... |
ORPHA:2494 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Microcephaly, Jaundice, Leukoencephalopathy, Weight loss |
ORPHA:20 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Glossitis, Angular cheilitis, Weight loss |
ORPHA:35858 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Epistaxis, Malabsorption, Weight loss, Bruising susceptibility |
ORPHA:79430 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Weight loss |
ORPHA:90060 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Weight loss |
OMIM:188580 |
Nephroblastoma |
|
Aniridia, Weight loss |
ORPHA:654 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Familial Colorectal Cancer Type X |
|
Malabsorption, Flexion contracture, Weight loss, Neoplasm of the rectum, Gait disturbance, Neopla... |
ORPHA:440437 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation |
OMIM:616749 |
Choreoacanthocytosis |
|
Caudate atrophy, Temporomandibular joint crepitus, Equinovarus deformity, Protruding tongue, Abno... |
ORPHA:2388 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Ataxia, Jaundice, Pedal edema, Abnormal skeletal muscle morpholo... |
ORPHA:284 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal obstruction, Intestinal perforation, Weight loss, Myopathy, Petechiae, Purpura |
ORPHA:85450 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Aicardi-Goutieres Syndrome 7 |
|
Intracerebral periventricular calcifications, Atrophic gastritis, Microcephaly, Basal ganglia cal... |
OMIM:615846 |
Myasthenia Gravis |
|
Myositis, Acrocyanosis |
ORPHA:589 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:256700 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Weight loss |
ORPHA:449400 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Peripheral Primitive Neuroectodermal Tumor |
|
Jaundice, Lower limb muscle weakness, Torticollis, Weight loss |
ORPHA:370348 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Weight loss |
ORPHA:90362 |
Wild Type Attr Amyloidosis |
|
Pedal edema, Weight loss |
ORPHA:330001 |
Malignant Atrophic Papulosis |
|
Intestinal fistula, Telangiectasia of the skin, Intestinal perforation, Weight loss, Ischemic stroke |
ORPHA:679 |
Pneumocystosis |
|
Hypoxemia, Weight loss |
ORPHA:723 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Cystic Echinococcosis |
|
Urticaria, Jaundice, Abnormality of the diaphragm, Weight loss |
ORPHA:400 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Weight loss, Downturned corners of mouth, Lower-limb joint contracture, Intrauterine grow... |
ORPHA:99885 |
Hypermobile Ehlers-Danlos Syndrome |
|
Pes planus, Abnormality of the dentition, Malabsorption, Abnormal foot morphology, Abnormality of... |
ORPHA:285 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Cerebral calcification, Short stature, Failure to thrive in infancy, Met... |
OMIM:219800 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Dermatomyositis |
|
Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Weight loss, Acrocyanosis, I... |
ORPHA:221 |
Bronchial Neuroendocrine Tumor |
|
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss |
ORPHA:97287 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Erdheim-Chester Disease |
|
Abnormal metaphysis morphology, Ataxia, Abnormal epiphysis morphology, Weight loss |
ORPHA:35687 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy, Villous atrophy, Short stature, Weight loss, Growth delay, Protein-losin... |
OMIM:614162 |
Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies, Weight loss |
OMIM:605543 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Telangiectasia of the skin, Erythema, Weight loss, Cutaneous photosensitivi... |
ORPHA:93672 |
Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Weight loss |
ORPHA:97289 |
Congenital Tracheal Stenosis |
|
Cyanosis, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diver... |
ORPHA:141127 |
Papillorenal Syndrome |
|
Microphthalmia, Short stature |
OMIM:120330 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Weight loss, Ischemic stroke, Vasculitis in the skin, Acrocyan... |
ORPHA:48435 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Sinusitis, Epistaxis, Abnormality of the nose, Weight loss, Abnormal oral... |
ORPHA:900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Flushing |
ORPHA:276621 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Weight loss, Flushing |
ORPHA:29072 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Weight loss |
ORPHA:33577 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Weight loss |
ORPHA:134 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Facial telangiectasia, Intermittent jaundice |
ORPHA:100085 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pedal edema |
ORPHA:99103 |
Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
Glucagonoma |
|
Intestinal obstruction, Necrolytic migratory erythema, Intermittent jaundice, Weight loss, Steato... |
ORPHA:97280 |
Simple Cryoglobulinemia |
|
Weight loss, Cold urticaria, Vascular skin abnormality, Purpura |
ORPHA:91139 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
Thymoma |
|
Myositis, Ulcerative colitis, Weight loss |
ORPHA:99867 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... |
ORPHA:42775 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Cyanosis |
ORPHA:99050 |
Neuroendocrine Tumor Of The Colon |
|
Facial telangiectasia, Weight loss |
ORPHA:100080 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Klatskin Tumor |
|
Jaundice, Weight loss |
ORPHA:99978 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Esophageal neoplasm, Weight loss, Failure to thrive, Abnormal esophagus morp... |
ORPHA:1018 |
Late-Onset Isolated Acth Deficiency |
|
Celiac disease, Failure to thrive, Weight loss |
ORPHA:199299 |
Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis, Clubbing, Pedal edema |
ORPHA:97214 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Neuroendocrine Tumor Of The Rectum |
|
Facial telangiectasia, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Facial telangiectasia, Weight loss |
ORPHA:100082 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, Abnormal s... |
ORPHA:2298 |
Familial Pancreatic Carcinoma |
|
Jaundice, Colon cancer, Intestinal pseudo-obstruction, Weight loss |
ORPHA:1333 |
Toxic Epidermal Necrolysis |
|
Malabsorption, Intestinal perforation, Erythema, Tracheoesophageal fistula, Weight loss |
ORPHA:537 |
Neuroendocrine Tumor Of Stomach |
|
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss |
ORPHA:100075 |
Aortic Arch Interruption |
|
Left ventricular hypertrophy, Cyanosis, Pedal edema |
ORPHA:2299 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Castleman Disease |
|
Jaundice, Intestinal obstruction, Weight loss |
ORPHA:160 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Short stature, Weight loss, Hypocapnia, Failure to thrive, Premature fusion of the r... |
ORPHA:90794 |
Behçet Disease |
|
Myositis, Ataxia, Malabsorption, Oral ulcer, Weight loss, Gait disturbance, Recurrent aphthous st... |
ORPHA:117 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Retinal hemorrhage |
ORPHA:79098 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Weight loss |
ORPHA:97286 |
Penile Agenesis |
|
Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Bilateral talipes equinovarus,... |
ORPHA:49 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Peripapillary atrophy... |
OMIM:175780 |
Parathyroid Carcinoma |
|
Mandibular pain, Peptic ulcer, Weight loss |
ORPHA:143 |
Stevens-Johnson Syndrome |
|
Esophageal stricture, Erythema, Weight loss |
ORPHA:36426 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Zollinger-Ellison Syndrome |
|
Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Erythema, Weight loss, Esophagitis |
ORPHA:913 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... |
ORPHA:79102 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Dermatological manifestations of systemic disorders, Weight loss |
ORPHA:100078 |
Grfoma |
|
Intestinal obstruction, Weight loss, Intermittent jaundice, Palmoplantar hyperhidrosis, Subcutane... |
ORPHA:97261 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Purpura, Dorsocervical fat pad, Neoplasm of the stomach, Poor wound healing, Intra-oral... |
ORPHA:99889 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Colitis, Weight loss, Steatorrhea |
ORPHA:309031 |
Vipoma |
|
Malabsorption, Erythema, Weight loss, Intermittent jaundice, Subcutaneous lipoma |
ORPHA:97282 |
Ppoma |
|
Intestinal obstruction, Weight loss, Subcutaneous lipoma, Intermittent jaundice |
ORPHA:97278 |
Somatostatinoma |
|
Intestinal obstruction, Weight loss, Intermittent jaundice, Steatorrhea, Subcutaneous lipoma |
ORPHA:97283 |
Acute Adrenal Insufficiency |
|
Weight loss, Failure to thrive, Delayed puberty |
ORPHA:95409 |
African Trypanosomiasis |
|
Abnormal basal ganglia MRI signal intensity, Miscarriage, Akinesia, Jaundice, Weight loss, Choreo... |
ORPHA:3385 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss, Intermittent jaundice |
ORPHA:100086 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Failure to thrive, Cyanosis |
ORPHA:216694 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Xerostomia, Weight loss, Enlargement of parotid gland, Abnormality of the extraocular m... |
ORPHA:79078 |
Goodpasture Syndrome |
|
Cyanosis, Weight loss |
OMIM:233450 |
Igg4-Related Retroperitoneal Fibrosis |
|
Pedal edema, Weight loss |
ORPHA:49041 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Addison Disease |
|
Celiac disease, Failure to thrive, Weight loss, Delayed puberty |
ORPHA:85138 |
Rat-Bite Fever |
|
Tendonitis, Parotitis, Weight loss |
ORPHA:31205 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Reactive Arthritis |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Weight loss |
ORPHA:29207 |
Pancreatoblastoma |
|
Jaundice, Weight loss |
ORPHA:677 |
Tropical Pancreatitis |
|
Jaundice, Weight loss |
ORPHA:103918 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Oral ulcer, Weight loss, Colitis, Vasculitis in the s... |
OMIM:619381 |
Chronic Graft Versus Host Disease |
|
Poor wound healing, Esophageal stricture, Erythema, Xerostomia, Flexion contracture, Weight loss,... |
ORPHA:99921 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Delayed puberty |
ORPHA:91347 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Facial palsy, Weight loss, Enlargement of parotid gland, Parotitis |
ORPHA:797 |
Multiple Endocrine Neoplasia Type 1 |
|
Gingival fibromatosis, Duodenal ulcer, Peptic ulcer, Weight loss |
ORPHA:652 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Weight loss |
ORPHA:3337 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |