Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Cofs Syndrome |
|
Wide nasal bridge, Cataract, Optic atrophy, Camptodactyly of finger, Hypogonadism, Joint stiffnes... |
ORPHA:1466 |
Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Anencephaly 2 |
|
Bifid nose, Anencephaly, Anophthalmia |
OMIM:619452 |
Microphthalmia With Limb Anomalies |
|
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anopht... |
OMIM:206920 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small placenta, Intrauterine growth retardation,... |
ORPHA:439167 |
Trisomy 13 |
|
Bilateral single transverse palmar creases, Cryptorchidism, Displacement of the urethral meatus, ... |
ORPHA:3378 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Small hand, Elevated circulating luteinizing hormone level, Moyamoya phenomenon, Abnormal hand mo... |
OMIM:300845 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Cataract, Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mou... |
ORPHA:93267 |
Warburg Micro Syndrome 1 |
|
Wide nasal bridge, Optic atrophy, Microcornea, Overlapping toe, External genital hypoplasia, Micr... |
OMIM:600118 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Retinal detachment, Abnormal bone ossification, Flattened epiphysis, Microphthalmia... |
ORPHA:163649 |
Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Occipital encephalocele, Anophthalmia, Encephalocele, Microphthalmia, Shor... |
OMIM:613885 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... |
ORPHA:363417 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Cataract, Dilated cardiomyopathy, Retrognathia, Long philtrum, Moyamoya phenomen... |
ORPHA:280679 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Retrognathia, Hypogonadism, Narrow mouth, Microphthalmia, Short stature, H... |
ORPHA:2528 |
Microphthalmia, Syndromic 12 |
|
Wide nasal bridge, Broad nasal tip, Anophthalmia, Microphthalmia |
OMIM:615524 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ectopia pupillae, Postnatal growth retardation, Cone/cone-rod dystrophy, Microphthalmia, Hypoplas... |
OMIM:608940 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Microcornea, Optic atrophy, Prominent nose, Micrognathia, Intrauterine growth retardati... |
OMIM:616171 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Clinodactyly, Microphthalmia, Bifid nose, Widely-spaced maxillary ... |
OMIM:136760 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... |
ORPHA:93357 |
Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... |
ORPHA:93323 |
17Q21.31 Microduplication Syndrome |
|
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar f... |
ORPHA:217340 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Large fonta... |
OMIM:257850 |
Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Reduced bone mineral den... |
ORPHA:2370 |
Pierpont Syndrome |
|
Cryptorchidism, Everted lower lip vermilion, Microphthalmia, Short foot, Short nose, Wide nose, M... |
OMIM:602342 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Mandibular prognathia, Cone-shaped epiphysis, Anteverted nares, Congenita... |
OMIM:614613 |
Cockayne Syndrome Type 2 |
|
Male hypogonadism, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of th... |
ORPHA:90322 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Genu valgum, Radioulnar synostosis, Retinal detachment, Microphthalmia, Iris c... |
ORPHA:2712 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Cry... |
ORPHA:139471 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Megalocornea, Cryptorchidism, Everted lower lip vermilion, Short f... |
ORPHA:915 |
Temtamy Syndrome |
|
Short toe, Chorioretinal coloboma, Thick lower lip vermilion, Micrognathia, Abnormal palate morph... |
ORPHA:1777 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microcornea, Malar prominence, Intrauterine growth retardation, Micrognathia, Hypogonad... |
ORPHA:48431 |
Oliver-Mcfarlane Syndrome |
|
Severe short stature, Pigmentary retinopathy, Central heterochromia, Decreased response to growth... |
OMIM:275400 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft ala nasi, Anophthalmia, Microphthalmia |
OMIM:164180 |
Cerebrooculonasal Syndrome |
|
Postnatal growth retardation, Anophthalmia, Encephalocele, High palate, Iris coloboma, U-Shaped u... |
OMIM:605627 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hypermobility, Aplasia/Hypoplasia aff... |
ORPHA:1695 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... |
OMIM:101800 |
Acrodysostosis |
|
Abnormal female external genitalia morphology, Open bite, Open mouth, Cryptorchidism, Bowing of t... |
ORPHA:950 |
Pierpont Syndrome |
|
Microcornea, Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Excessive wr... |
ORPHA:487825 |
Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... |
OMIM:201000 |
Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Cataract, Choanal atresia, Depressed nasal bridge, Optic atrophy,... |
ORPHA:1914 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Wide nasal bridge, Broad alveolar ridges, Delayed eruption of teeth, Campto... |
ORPHA:2863 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Microcornea, Short toe, Downtur... |
ORPHA:1327 |
Alpha-Heavy Chain Disease |
|
Alopecia, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum,... |
OMIM:214150 |
Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Osteopenia, Abnormal lower limb bone morphology, Microphthalmia, Inc... |
ORPHA:2788 |
Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... |
OMIM:618889 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Fl... |
OMIM:251450 |
Proteus-Like Syndrome |
|
Genu recurvatum, Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyr... |
ORPHA:2969 |
Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... |
ORPHA:1106 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Wide nasal bridge, Cataract, Optic atrophy, Conical tooth, Dental malocclusion, Sandal gap, Broad... |
OMIM:618727 |
Short Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Severe short stature, Abnormal mandible morpholo... |
ORPHA:3163 |
Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Chorioretinal coloboma, Short first metatarsal, Anteverted nares, Epiphysea... |
OMIM:619135 |
Distal Duplication 18Q |
|
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal female ext... |
ORPHA:1716 |
Walker-Warburg Syndrome |
|
Cataract, Microcornea, Retinal dysplasia, Optic atrophy, Abnormal optic nerve morphology, Bifid u... |
ORPHA:899 |
Premature Ovarian Failure 12 |
|
Primary amenorrhea, Microphthalmia |
OMIM:616947 |
Pseudopseudohypoparathyroidism |
|
Cataract, Depressed nasal bridge, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hyp... |
OMIM:612463 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Cryptorchidism, Anophthalmia, Contracture of the proximal ... |
OMIM:300166 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Toe syndactyly, Long philtrum, Umbilical hernia, Anteverted nares, Microg... |
ORPHA:171839 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Camptodactyly of finger, Prominent nose, Micrognathia, Microphthalmia, I... |
OMIM:610756 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydact... |
OMIM:615982 |
Weiss-Kruszka Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Single transverse palmar c... |
ORPHA:502430 |
Pyle Disease |
|
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... |
OMIM:265900 |
Lowry-Maclean Syndrome |
|
Megalocornea, Micrognathia, Delayed eruption of primary teeth, Hypospadias, Short nose, High, nar... |
ORPHA:2409 |
Hydrolethalus |
|
Bifid uvula, Gingival cleft, Micromelia, Retrognathia, Unilateral cleft lip, Micrognathia, Crypto... |
ORPHA:2189 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... |
ORPHA:168549 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Microphthal... |
ORPHA:85167 |
Trisomy 1Q |
|
Small scrotum, Depressed nasal bridge, Toe syndactyly, Microretrognathia, Camptodactyly of finger... |
ORPHA:261344 |
2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality... |
ORPHA:1617 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Martsolf Syndrome 1 |
|
Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Microphtha... |
OMIM:212720 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Attenuation of ret... |
OMIM:616108 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Warburg Micro Syndrome 3 |
|
Cataract, Microcornea, Small scrotum, Optic atrophy, Downturned corners of mouth, Narrow palate, ... |
OMIM:614222 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Long philtrum, Pterygium, Shor... |
ORPHA:93329 |
Cockayne Syndrome Type 1 |
|
Cataract, Male hypogonadism, Mandibular prognathia, Foot joint contracture, Optic atrophy, Pigmen... |
ORPHA:90321 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Ulnar deviation of finger, Hypoplasia of the maxilla, Abnormal optic nerve m... |
ORPHA:1101 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Widely spaced teeth, Anteverted nares, Micrognathia, Astigmatism, Knee flexion contract... |
OMIM:619694 |
Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Keratoconus, Intrauterine g... |
ORPHA:52 |
Otodental Syndrome |
|
Carious teeth, Periodontitis, Microphthalmia, Lens coloboma, Iris coloboma, Cataract, Microcornea... |
ORPHA:2791 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, External genital hypoplasia, Retinal degeneration, Polydactyly, Rod-cone dystrophy,... |
OMIM:615993 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Congenital hip dislocation, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced t... |
OMIM:619797 |
Focal Dermal Hypoplasia |
|
Toe syndactyly, Chorioretinal coloboma, Supernumerary nipple, Cryptorchidism, Anophthalmia, Telan... |
OMIM:305600 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Micrognathia, Talipes equinovarus, Microphthalmia, Rocker bottom... |
OMIM:616570 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Hypoplastic female external genitalia, Clinodactyly, Long philtrum, Anteverted... |
OMIM:618577 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Short toe, Dela... |
OMIM:103580 |
Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Wide nasal bridge, Retrognathia, Chorioretinal coloboma, Long philtrum, Cl... |
OMIM:243310 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Abnormal nasal morphology, Anophthalmia, Spina bifida |
ORPHA:1104 |
Meckel Syndrome |
|
Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Anophthalmia, Encephalocele, Bowing of ... |
ORPHA:564 |
Stickler Syndrome Type 1 |
|
Cataract, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal verte... |
ORPHA:90653 |
Mmep Syndrome |
|
Cryptorchidism, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Man... |
ORPHA:3434 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... |
ORPHA:543 |
Edinburgh Malformation Syndrome |
|
Slender finger, Ulnar deviation of finger, Choanal atresia, Downturned corners of mouth, Joint st... |
ORPHA:1895 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Rhizomelia, Reduced sperm motility, Proximal femoral metaphyseal irregularity, Con... |
OMIM:602271 |
Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Micrognathia, Cryptorchidism, Prominent nasal tip, Broad phalanx, B... |
ORPHA:439822 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Cryptorchidism, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wi... |
OMIM:607812 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short distal phalanx of finger, Anosmia, Cataract, Depressed nasal bridge, Hypogonadism, Epiphyse... |
OMIM:302950 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Genu valgum, Micrognathia, Narrow mouth, Radial head subluxation, Patellar dislocation, Short foo... |
OMIM:614078 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contr... |
OMIM:601812 |
Holoprosencephaly |
|
Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Encephalocele, Arrhythmia, Microphthalmia, ... |
ORPHA:2162 |
Vacterl With Hydrocephalus |
|
Microcornea, Retrognathia, Abnormal optic nerve morphology, Intrauterine growth retardation, Micr... |
ORPHA:3412 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Open mouth, Cryptorchidism, High palate, Short nose, Syndactyly, Downturned corners... |
ORPHA:369891 |
Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Anosmia, Anophthalmia, Midnasal stenosis, Microphthalmia, Abnormal nasopharynx m... |
OMIM:147250 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Broad columella, Underdeveloped nasal alae, Intrauterine growth retardation, Micrognathia, Crypto... |
ORPHA:166035 |
Gapo Syndrome |
|
Keratoconus, Micrognathia, Decreased skull ossification, Dysmenorrhea, Everted lower lip vermilio... |
ORPHA:2067 |
49,Xxxxy Syndrome |
|
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... |
ORPHA:96264 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Joint hypermobi... |
OMIM:610125 |
Micro Syndrome |
|
Wide nasal bridge, Cataract, Microcornea, Optic atrophy, Retinal coloboma, Joint stiffness, Micro... |
ORPHA:2510 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
Absent Eyebrows And Eyelashes With Impaired Intellectual Development |
|
Encephalocele, Convex nasal ridge, Short nose |
OMIM:200130 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... |
OMIM:612350 |
Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia |
OMIM:233270 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Widely-spaced maxillary central incisors, Cleft upper lip, Cryptorchidism, Orofacial... |
OMIM:601349 |
Cohen Syndrome |
|
Finger syndactyly, Genu valgum, Micrognathia, Cryptorchidism, Open mouth, Narrow palm, Arachnodac... |
ORPHA:193 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cervical myelopathy, Cataract, Depressed nasal bridge, Growth delay, Irregular epiphyses, Attenua... |
OMIM:619260 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Abnormality of the dentition, Pigmentary retinopathy, Decreased response to growth hormone stimul... |
ORPHA:3363 |
Hao-Fountain Syndrome |
|
Premature adrenarche, Delayed cranial suture closure, Large fontanelles, Cryptorchidism, Hallux v... |
OMIM:616863 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum, High palate,... |
OMIM:269300 |
Hallermann-Streiff Syndrome |
|
Thin ribs, Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Cryptorchidism, Telan... |
OMIM:234100 |
Kapur-Toriello Syndrome |
|
Cataract, Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, R... |
OMIM:244300 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia i... |
ORPHA:3301 |
Moebius Syndrome |
|
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Micropht... |
OMIM:157900 |
Catifa Syndrome |
|
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... |
OMIM:618761 |
Developmental And Epileptic Encephalopathy 73 |
|
Cataract, Narrow nasal bridge, Hip dysplasia, Flexion contracture, Short nose |
OMIM:618379 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet... |
ORPHA:63442 |
Greig Cephalopolysyndactyly Syndrome |
|
Keratoconus, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Delayed cran... |
OMIM:175700 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Growth delay, Bilateral microphthalmos, Delayed cranial suture closure, Decreased ... |
ORPHA:93325 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Anosmia, Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Hyposm... |
ORPHA:2250 |
Temtamy Syndrome |
|
Aortic regurgitation, Ectopia lentis, Dental crowding, Chorioretinal coloboma, Long philtrum, Mic... |
OMIM:218340 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e... |
ORPHA:2839 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Large fontanelles, Dec... |
ORPHA:1452 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia |
OMIM:619164 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Delayed eruptio... |
OMIM:612462 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Abnormal joint morphology, Flexion contract... |
ORPHA:485 |
Nance-Horan Syndrome |
|
Cataract, Microcornea, Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Reti... |
ORPHA:627 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, Delayed puber... |
ORPHA:496790 |
48,Xxyy Syndrome |
|
Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulna... |
ORPHA:10 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Delayed eruption of teeth, Fasting hyperinsulinemia, Decreased fibular diameter, Post... |
OMIM:619489 |
Morm Syndrome |
|
Micropenis, Cataract, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Delayed cranial suture closure, Micrognathia, Large fontanelles, High, nar... |
ORPHA:2780 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Micrognathia, Open mouth, Cryptorchidism, Irregular dentition, Encephalocele, Ta... |
OMIM:619148 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Osteopenia, Depressed nasal bridge, Decreased response to growth hormone st... |
OMIM:614732 |
Mucolipidosis Iii Alpha/Beta |
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Aortic regurgitation, Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Br... |
OMIM:252600 |
Periventricular Nodular Heterotopia 7 |
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Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:617201 |
Intellectual Developmental Disorder, X-Linked 91 |
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Short 5th finger, Small hand, Clinodactyly, Macrodontia, Cubitus valgus, High palate, Short foot,... |
OMIM:300577 |
Osteogenesis Imperfecta, Type Xii |
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Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Dep... |
OMIM:613849 |
Otopalatodigital Syndrome Type 2 |
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Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
ORPHA:90652 |
Teebi Hypertelorism Syndrome 2 |
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Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... |
OMIM:619736 |
Chung-Jansen Syndrome |
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Long philtrum, Anteverted nares, Micrognathia, Cryptorchidism, Joint hypermobility, Short philtru... |
OMIM:617991 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Hypospadias, Growth delay, 11 pairs of ribs, Cryptorchidism, Anophthalmia, Hydrocephalus, Microph... |
ORPHA:77298 |
Marshall Syndrome |
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Radial bowing, Thick upper lip vermilion, Micrognathia, Knee osteoarthritis, Absent frontal sinus... |
OMIM:154780 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Broad thumb, Delayed cranial suture closure, Cutaneous finger synd... |
OMIM:113000 |
Holoprosencephaly 9 |
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Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Anophthalmia, Bilateral c... |
OMIM:610829 |
Chromosome 6Q11-Q14 Deletion Syndrome |
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Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Umbilical hernia, Micrognathia, Promine... |
OMIM:613544 |
Warburg Micro Syndrome 2 |
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Cataract, Microcornea, Small scrotum, Optic atrophy, Postnatal growth retardation, Overlapping to... |
OMIM:614225 |
Microphthalmia, Lenz Type |
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Cataract, Microcornea, Hypospadias, Abnormality of the dentition, Finger syndactyly, Chorioretina... |
ORPHA:568 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... |
OMIM:204200 |
Laron Syndrome |
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Severe short stature, Depressed nasal ridge, Hypoplastic nasal bridge, Short toe, Delayed eruptio... |
ORPHA:633 |
Codas Syndrome |
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Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Cataract, Abnormal epiphysis ... |
ORPHA:1458 |
Microphthalmia/Coloboma 6 |
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Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
Charge Syndrome |
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Chorioretinal coloboma, Abnormal tibia morphology, Postnatal growth retardation, Narrow mouth, Cr... |
ORPHA:138 |
Lethal Osteosclerotic Bone Dysplasia |
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Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... |
ORPHA:1832 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
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Optic atrophy, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Crypt... |
OMIM:615419 |
3M Syndrome |
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Thin ribs, Decreased fertility, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abn... |
ORPHA:2616 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Broad nasal tip, Bulbous nose, Anteverted nares, Prominent nasal bridge, Anophthalmia |
ORPHA:411986 |
Osteoglophonic Dysplasia |
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Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Chordee, Broad phala... |
OMIM:166250 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorc... |
ORPHA:2701 |
Ramon Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of retinal pigmentation... |
ORPHA:3019 |
Trisomy 18 |
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Narrow mouth, Bilateral single transverse palmar creases, Cryptorchidism, Microphthalmia, Holopro... |
ORPHA:3380 |
Odontochondrodysplasia |
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Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Mic... |
ORPHA:166272 |
Femoral-Facial Syndrome |
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Aplasia/Hypoplasia of the tibia, Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar sy... |
ORPHA:1988 |
Immunodeficiency 75 With Lymphoproliferation |
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Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Fibrochondrogenesis 1 |
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Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Meg... |
OMIM:228520 |
Ruvalcaba Syndrome |
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Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow ex... |
OMIM:180870 |
Microphthalmia, Syndromic 16 |
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Anophthalmia, Microphthalmia |
OMIM:611038 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Small placenta, Postnatal growth retardation, Intrauterine growth retardation, Severe postnatal g... |
ORPHA:73272 |
Pallister-Hall-Like Syndrome |
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Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Occ... |
OMIM:241800 |
Sandestig-Stefanova Syndrome |
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Wide nasal bridge, Clinodactyly, Retrognathia, Intrauterine growth retardation, Microphthalmia, B... |
OMIM:618804 |
Chromosome 16Q22 Deletion Syndrome |
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Wide nasal bridge, Depressed nasal bridge, Growth delay, Broad hallux, Postnatal growth retardati... |
OMIM:614541 |
8Q21.11 Microdeletion Syndrome |
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Finger syndactyly, Micrognathia, Narrow mouth, Cryptorchidism, Abnormal metacarpal morphology, Mi... |
ORPHA:284160 |
Chromosome 8Q21.11 Deletion Syndrome |
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Wide nasal bridge, Cataract, Pigmentary retinopathy, Downturned corners of mouth, Underdeveloped ... |
OMIM:614230 |
Microphthalmia With Linear Skin Defects Syndrome |
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Clitoral hypertrophy, Micrognathia, Mitral regurgitation, Anophthalmia, Abnormal vitreous humor m... |
ORPHA:2556 |
Oculocerebrorenal Syndrome Of Lowe |
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Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Cr... |
ORPHA:534 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cup... |
OMIM:300863 |
Short Syndrome |
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Clinodactyly, Insulin-resistant diabetes mellitus, Megalocornea, Micrognathia, Ovarian cyst, Cata... |
OMIM:269880 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Aortic valve stenosis, Megalocornea, Prominent scalp veins, Subluxation of the small joints of th... |
ORPHA:536471 |
Rothmund-Thomson Syndrome, Type 2 |
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Small hand, Micrognathia, Cryptorchidism, Telangiectasia, Talipes equinovarus, Microphthalmia, Hi... |
OMIM:268400 |
Hurler Syndrome |
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Mitral regurgitation, Diaphyseal undertubulation, Calvarial hyperostosis, Aortic regurgitation, B... |
OMIM:607014 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
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Cataract, Microcornea, Mandibular prognathia, Broad nasal tip, Depressed nasal bridge, Myopic ast... |
OMIM:152950 |
Microphthalmia/Coloboma 4 |
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Microphthalmia |
OMIM:251505 |
Roberts Syndrome |
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Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation... |
ORPHA:3103 |
Biemond Syndrome Type 2 |
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Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus, Microphthalmia |
ORPHA:141333 |
48,Xxxy Syndrome |
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Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... |
ORPHA:96263 |
Grant Syndrome |
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Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,... |
ORPHA:2097 |
Osteoglosphonic Dysplasia |
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Severe short stature, Choanal atresia, Rhizomelia, Tooth agenesis, Anteverted nares, Micrognathia... |
ORPHA:2645 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Secondary hyperparathyroidism, Ri... |
OMIM:277440 |
Rere-Related Neurodevelopmental Syndrome |
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Hypospadias, Choanal atresia, Optic atrophy, Peters anomaly, Chorioretinal coloboma, Postnatal gr... |
ORPHA:494344 |
Robinow Syndrome, Autosomal Dominant 2 |
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Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Cryptorchidism, Short nose, Oligodont... |
OMIM:616331 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
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Carious teeth, Postnatal growth retardation, Overlapping toe, Cutaneous finger syndactyly, Microg... |
OMIM:613026 |
Bardet-Biedl Syndrome 9 |
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Irregular menstruation, Cataract, Postaxial foot polydactyly, Attenuation of retinal blood vessel... |
OMIM:615986 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Clinodactyly, Cryptorchidism, Short foot, Curved ... |
OMIM:305400 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... |
OMIM:609945 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Decreased fibular diameter, Micrognathia, Decreased skull ossification, Multiple prenatal fractur... |
OMIM:616897 |
Filippi Syndrome |
|
Wide nasal bridge, Optic atrophy, 2-4 toe syndactyly, Finger clinodactyly, Underdeveloped nasal a... |
OMIM:272440 |
Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... |
OMIM:184260 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Delayed epiphyseal ossification, Dislocation of the femoral head, Genu valgum, Micrognathia, Narr... |
OMIM:616007 |
Cornelia De Lange Syndrome 5 |
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Small hand, Toe syndactyly, Postnatal growth retardation, Micrognathia, Cryptorchidism, High pala... |
OMIM:300882 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Depressed nasal ridge, Anteverted nares, Short nose |
ORPHA:1355 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
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Optic atrophy, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Narrow mou... |
ORPHA:1495 |
Warburg Micro Syndrome 4 |
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Small scrotum, Microcornea, Optic atrophy, Long philtrum, Decreased testicular size, Anteverted n... |
OMIM:615663 |
Joubert Syndrome 14 |
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Optic atrophy, Growth delay, Prominent nasal bridge, Open mouth, Malar flattening, Tented upper l... |
OMIM:614424 |
Coffin-Siris Syndrome 2 |
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Short distal phalanx of finger, Depressed nasal bridge, Delayed eruption of teeth, Sandal gap, Lo... |
OMIM:614607 |
Distal Deletion 6P |
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Ectopia pupillae, Micrognathia, Talipes equinovarus, Posterior embryotoxon, Short foot, Wide nose... |
ORPHA:96125 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Anteverted nares, Short nose |
ORPHA:2015 |
Pycnodysostosis |
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Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... |
ORPHA:763 |
4H Leukodystrophy |
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Cataract, Optic atrophy, Abnormality of the dentition, Delayed eruption of teeth, Decreased respo... |
ORPHA:289494 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Micrognathia, Narrow mou... |
ORPHA:261120 |
Acromicric Dysplasia |
|
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... |
ORPHA:969 |
Donnai-Barrow Syndrome |
|
Cataract, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the iris, Umbilical hernia, Mala... |
OMIM:222448 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, Large hands, High palate, Sho... |
ORPHA:192 |
Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Bifid scrotum, Long ... |
ORPHA:93328 |
Microphthalmia, Syndromic 3 |
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Cataract, Optic nerve aplasia, Postnatal growth retardation, Cryptorchidism, Anophthalmia, Missin... |
OMIM:206900 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Small scrotum, Depressed nasal bridge, Conical tooth, Abnormality of th... |
ORPHA:228390 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Median cleft palate, Abnormality of the fontanelles or cranial sutures, Corneal opac... |
ORPHA:2432 |
Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Clitoral hypertrophy, Nat... |
ORPHA:313855 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Retinal degeneration, Microphthalmia |
OMIM:251700 |
Bartsocas-Papas Syndrome |
|
Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Under... |
ORPHA:1234 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Hand clenching, Congenital hip dislocation, Subdural hemorrhage, Overlapping fingers, Micrognathi... |
OMIM:618291 |
Cerebrooculonasal Syndrome |
|
Long philtrum, Widely spaced teeth, Anophthalmia, Postaxial hand polydactyly, Microdontia, Solita... |
ORPHA:66625 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cataract, Depressed nasal bridge, Optic atrophy, Short nose, Intrauterine growth retardation, Mic... |
OMIM:619833 |
Frank-Ter Haar Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Genu recurvatum, Delayed eruption of teeth, Camptodact... |
ORPHA:137834 |
De Barsy Syndrome |
|
Prominent veins on trunk, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Talipes equ... |
ORPHA:2962 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Intrauterine growth retardation, Convex nasal ridge, Craniosynostosis,... |
OMIM:600252 |
Verheij Syndrome |
|
Short 5th finger, Wide nasal bridge, Broad nasal tip, Growth delay, Clinodactyly, Retrognathia, B... |
OMIM:615583 |
Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... |
OMIM:311300 |
Hallermann-Streiff Syndrome |
|
Small hand, Rib exostoses, Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Microphthalmi... |
ORPHA:2108 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... |
ORPHA:3258 |
Cutis Marmorata Telangiectatica Congenita |
|
Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Subcutaneous hemorrhage, Arterial ... |
ORPHA:1556 |
Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... |
OMIM:260660 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Long philtrum, Juvenile cataract, Thin upper lip vermilion, Smooth philtr... |
ORPHA:438178 |
Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Microphthalmia, Absent distal ... |
OMIM:619339 |
Temple-Baraitser Syndrome |
|
Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Everted lower lip vermilion, H... |
ORPHA:420561 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Narrow mouth, Cryptorchidism... |
ORPHA:251028 |
Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Aortic root aneu... |
OMIM:145420 |
3C Syndrome |
|
Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Postnatal growth retardation, M... |
ORPHA:7 |
Oculodentodigital Dysplasia |
|
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Arrhythmia, Short h... |
ORPHA:2710 |
Sjogren-Larsson Syndrome |
|
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Enamel hypoplasia, Opacificati... |
OMIM:270200 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Short nose, Microphthalmia, ... |
ORPHA:2547 |
2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Abnor... |
ORPHA:251014 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of ... |
ORPHA:163966 |
Bresek Syndrome |
|
Growth delay, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Hydroce... |
ORPHA:85284 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Retinal detachment, ... |
ORPHA:819 |
Witteveen-Kolk Syndrome |
|
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Hyperpl... |
OMIM:613406 |
Duane Retraction Syndrome |
|
Chorioretinal coloboma, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Evert... |
ORPHA:233 |
Ohdo Syndrome |
|
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Ant... |
OMIM:249620 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Postnatal growth retardation, Overlapping toe, Micrognathia, Cryptorchidism, High palate, Broad n... |
OMIM:613792 |
Potocki-Shaffer Syndrome |
|
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Single transverse palm... |
OMIM:601224 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Malar flattening, S... |
ORPHA:2145 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Postnatal growth retardation, Large fontanelles, Flat acetabular... |
OMIM:613320 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Limitation of joint mobilit... |
ORPHA:95699 |
Trichothiodystrophy |
|
Carious teeth, Cryptorchidism, Clubbing, High, narrow palate, Osteopenia, Microcornea, Macular de... |
ORPHA:33364 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Cataract, Rhizomelia, Microcornea, Long philtrum, Ectopia pupillae, Anophthal... |
OMIM:615877 |
Mietens Syndrome |
|
Elbow dislocation, Elbow ankylosis, Abnormal fibula morphology, Hip dislocation, Short nose, Wide... |
ORPHA:2557 |
Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Pursed lips, Postnatal growth retardation, Narrow mouth, Cryptorch... |
OMIM:193700 |
Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Impacted tooth, Abnormal pupil morphology, Bilatera... |
ORPHA:236 |
Dubowitz Syndrome |
|
Small hand, Broad thumb, Toe syndactyly, Delayed cranial suture closure, Abnormal female external... |
ORPHA:235 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the costochondral junction, Postnatal growth retardation, Stippling of the epiphys... |
ORPHA:79345 |
1Q21.1 Microdeletion Syndrome |
|
Broad thumb, Toe syndactyly, Ankyloglossia, Cryptorchidism, Talipes equinovarus, Microphthalmia, ... |
ORPHA:250989 |
Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... |
OMIM:224300 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, External genital hypoplasia, Re... |
OMIM:615981 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Broad columella, Underdeveloped nasal alae, Diastema, Micrognathia, Malar fl... |
ORPHA:436245 |
Hartsfield Syndrome |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Enceph... |
ORPHA:2117 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Retinopathy, Exencephaly, Ambiguous genitalia, Micropenis, Retinal dystrophy |
OMIM:614464 |
Emanuel Syndrome |
|
Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, High palate, Patent ductu... |
ORPHA:96170 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palma... |
ORPHA:264200 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... |
ORPHA:750 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
Incontinentia Pigmenti |
|
Finger syndactyly, Supernumerary nipple, Abnormal hand morphology, Retinal detachment, Microphtha... |
ORPHA:464 |
Marden-Walker Syndrome |
|
High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Postna... |
OMIM:248700 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante... |
OMIM:267760 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Clitoral hypertrophy, Postnatal growth retardation, Micrognathia, Cryptorchidism... |
OMIM:210600 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Small hand, Depressed nasal bridge, Bifid uvula, Long philtrum, Decreased ... |
OMIM:241410 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy, Micr... |
OMIM:601794 |
Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ... |
ORPHA:1692 |
Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Small scrotum, Toe syndactyly, Finger syndactyly, Thumb contracture,... |
OMIM:607932 |
Sjögren-Larsson Syndrome |
|
Macular degeneration, Abnormal dental enamel morphology, Joint stiffness, Retinopathy, Abnormalit... |
ORPHA:816 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Optic atrophy, Bulbous nose, Micrognathia, Absent distal phalanges, Singl... |
OMIM:614219 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Abnormality of the uterus, Umbilical hernia, Retinal detachment, Retinal ... |
ORPHA:2143 |
Monosomy 9Q22.3 |
|
Palmar pits, Cataract, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, ... |
ORPHA:77301 |
Marshall Syndrome |
|
Thick upper lip vermilion, Micrognathia, Genu valgum, Abnormal vitreous humor morphology, Retinal... |
ORPHA:560 |
Pseudohypoparathyroidism Type 1B |
|
Cataract, Pituitary resistance to thyroid hormone, Depressed nasal bridge, Elevated circulating p... |
ORPHA:94089 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Depressed nasal bridge, Limitation of joint mobility, Ocular alb... |
ORPHA:2719 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... |
OMIM:143200 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Limitation of joint mobility, Limited hip movement, Ankyloglossia, Microgn... |
ORPHA:740 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal ra... |
OMIM:601559 |
Cockayne Syndrome A |
|
Carious teeth, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Cryptorc... |
OMIM:216400 |
Frontorhiny |
|
Cataract, Hypoplasia of the maxilla, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly... |
ORPHA:391474 |
Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... |
ORPHA:3472 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Everted lower lip vermilion, High palate, Anterior open-bite malocclusion, Short nose... |
OMIM:617877 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Dislocated radial head, Hip dislocation, Bilateral microphthalmos, Knee flexion con... |
OMIM:610758 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cryptorchidism, Talipes equinovarus, Retinal detachment, Everted lower lip vermilion, Finger join... |
OMIM:620371 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Fibular bowing, Secondary hyperparathyroidism, Rickets, Bulging ... |
OMIM:264700 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios |
ORPHA:397590 |
Burn-Mckeown Syndrome |
|
Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose |
ORPHA:1200 |
Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test, Anteverted nares, Malar flattening, Wormia... |
OMIM:601853 |
Jacobsen Syndrome |
|
Chorioretinal coloboma, Micrognathia, Cryptorchidism, Microphthalmia, Holoprosencephaly, Hypospad... |
OMIM:147791 |
Congenital Rubella Syndrome |
|
Cataract, Type I diabetes mellitus, Intrauterine growth retardation, Aplasia/Hypoplasia of the ir... |
ORPHA:290 |
Bcard Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth retardation... |
OMIM:612394 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Short ribs, Limb ... |
OMIM:618961 |
Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... |
OMIM:611040 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Microphthalmia, Flat acetabular roof, Pa... |
OMIM:616300 |
Tarp Syndrome |
|
Clinodactyly, Micrognathia, Large fontanelles, Talipes equinovarus, Bilateral talipes equinovarus... |
OMIM:311900 |
Peho-Like Syndrome |
|
Optic atrophy, Retrognathia, Open mouth, Short nose, Tapered finger |
OMIM:617507 |
Triploidy |
|
Cataract, Hypospadias, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Narrow m... |
ORPHA:3376 |
Distal Duplication 5Q |
|
Carious teeth, Absent thumb, Chorioretinal coloboma, Long philtrum, Micrognathia, Prominent nasal... |
ORPHA:96097 |
Osteogenesis Imperfecta |
|
Thin ribs, Carious teeth, Aortic root aneurysm, Abnormal tibia morphology, Genu valgum, Micrognat... |
ORPHA:666 |
Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Rod-cone dystrophy, Foot polydactyly, High palate, Short foot, Retina... |
OMIM:209900 |
Bent Bone Dysplasia Syndrome 1 |
|
Coronal craniosynostosis, Clitoral hypertrophy, Abnormally large globe, Natal tooth, Micrognathia... |
OMIM:614592 |
Diabetes Insipidus, Neurohypophyseal |
|
Short nose, Wide nose |
OMIM:125700 |
Oculodentodigital Dysplasia |
|
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Microphthalmia, Hig... |
OMIM:164200 |
Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Postn... |
OMIM:200990 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Wide nasal bridge, Growth delay, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Open... |
OMIM:613604 |
Achondrogenesis Type 1B |
|
Severe short stature, Disproportionate short stature, Abnormal enchondral ossification, Micromeli... |
ORPHA:93298 |
Elsahy-Waters Syndrome |
|
Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, I... |
OMIM:211380 |
Scheie Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Depressed nasal bridge, Genu valgum, Mitral stenosis... |
OMIM:607016 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Alopeci... |
OMIM:602450 |
Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Long philtrum, Micrognathia, Cryptorchidism, Arachnodactyly, Aplasi... |
ORPHA:1702 |
Acrocraniofacial Dysostosis |
|
Broad thumb, Genu valgum, Micrognathia, Choanal atresia, Ulnar deviation of finger, Short 1st met... |
ORPHA:949 |
Joubert Syndrome 37 |
|
Wide nasal bridge, Decreased testicular size, Anteverted nares, Cryptorchidism, Prominent metopic... |
OMIM:619185 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia |
ORPHA:1528 |
Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar synostosis, Short... |
OMIM:194190 |
Perlman Syndrome |
|
Wide nasal bridge, High, narrow palate, Retrognathia, Abnormal pancreas morphology, Anteverted na... |
ORPHA:2849 |
Harel-Yoon Syndrome |
|
Optic atrophy, Hypertrophic cardiomyopathy, Micrognathia, Developmental cataract, Corneal opacity... |
OMIM:617183 |
Bardet-Biedl Syndrome 17 |
|
Anosmia, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Macular atrophy, P... |
OMIM:615994 |
Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Bruising susceptibility... |
ORPHA:49042 |
Three M Syndrome 1 |
|
Postnatal growth retardation, Hypospadias, Hip dislocation, Short 5th finger, Joint dislocation, ... |
OMIM:273750 |
Acrofacial Dysostosis, Catania Type |
|
Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Finger syndactyly, Hy... |
ORPHA:1786 |
Familial Exudative Vitreoretinopathy |
|
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... |
ORPHA:891 |
Fraser Syndrome 1 |
|
Clitoral hypertrophy, Cutaneous finger syndactyly, Cryptorchidism, Anophthalmia, Encephalocele, A... |
OMIM:219000 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Vascular granular osmiophilic material deposition, Optic atrophy, Macular degeneration, Retinal d... |
OMIM:256730 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi... |
OMIM:146510 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Wide nasal bridge, Cataract, Microretrognathia, Cleft lip, Downturned corners of mouth, Long phil... |
OMIM:618571 |
Charge Syndrome |
|
Postnatal growth retardation, Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalm... |
OMIM:214800 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, High palate, Short fo... |
OMIM:170390 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Depressed nasal ridge, Palmoplantar keratoderma, Delayed eruption of teeth, Decreased fertility, ... |
ORPHA:1816 |
Achondrogenesis Type 1A |
|
Severe short stature, Micromelia, Abnormal enchondral ossification, Long philtrum, Umbilical hern... |
ORPHA:93299 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Postnatal growth retardatio... |
ORPHA:93324 |
Chromosome 3Q29 Duplication Syndrome |
|
Wide nasal bridge, Bulbous nose, Abnormally large globe, Short nose |
OMIM:611936 |
C Syndrome |
|
Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Cry... |
OMIM:211750 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract, Moderate postnatal growth retardation, Epiphyseal stippling, Knee flexion contracture, ... |
OMIM:118650 |
Mosaic Trisomy 9 |
|
Limitation of joint mobility, Elbow dislocation, Micrognathia, Large fontanelles, Cryptorchidism,... |
ORPHA:99776 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Short thumb, Long philtrum, Prominent nasal bridge, Limited elbow extension an... |
ORPHA:401935 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Hypogo... |
ORPHA:1135 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Trisomy 12P |
|
Wide nasal bridge, Downturned corners of mouth, Supernumerary nipple, Micrognathia, Aplasia/Hypop... |
ORPHA:1699 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... |
OMIM:600002 |
Traboulsi Syndrome |
|
Arachnodactyly, Microphthalmia, High palate, Wide nose, Cataract, Anterior synechiae of the anter... |
OMIM:601552 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Microphthalmia, ... |
OMIM:251270 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Microphthalmia, Iris coloboma, Cataract, Polydact... |
OMIM:109400 |
Cat-Eye Syndrome |
|
Chorioretinal coloboma, Abnormal rib morphology, Intrauterine growth retardation, Microphthalmia,... |
ORPHA:195 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Cataract, Disproportionate short stature, ... |
ORPHA:1856 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Prominent nasal brid... |
ORPHA:71267 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Clinodactyly, Brachydactyly, Ocular anterior segment dysgenesis, Microphthalmia, ... |
OMIM:610023 |
Proboscis Lateralis |
|
Chorioretinal coloboma, Anophthalmia, Microphthalmia, High palate, Holoprosencephaly, Iris colobo... |
ORPHA:141099 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Ectopia lentis, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Sho... |
ORPHA:2325 |
Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... |
OMIM:190350 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d... |
ORPHA:363741 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Small hand, Depressed nasal bridge, Abnormality of the dentition, Long phi... |
ORPHA:2323 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Everted lower lip vermilion, Microphthalmia, Short nose, Pierre-Robin sequence, A... |
ORPHA:364577 |
Mend Syndrome |
|
Aortic valve stenosis, Cataract, Asymmetry of the mouth, Broad hallux, Overlapping toe, Overlappi... |
ORPHA:401973 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Anosmia, Hypoplasia of the zygomatic bone, Bifid scrotum, Joint s... |
ORPHA:1295 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Rod-cone dystr... |
OMIM:266920 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Carious teeth, Aortic root aneurysm, Postnatal growth retardation, Dysplasia of the femoral head,... |
ORPHA:536467 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Dent... |
ORPHA:83451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus, Developmental cataract, Microphthalmia, Macroglossia, Abnormal lef... |
OMIM:613155 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia |
OMIM:218670 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... |
ORPHA:1248 |
Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Cryptorch... |
ORPHA:221016 |
Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal b... |
ORPHA:1791 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Ectopic thymus tissue, Postnatal growth retardation, Micrognathia, Cryptorc... |
OMIM:113620 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... |
ORPHA:85128 |
Ruvalcaba Syndrome |
|
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Abnor... |
ORPHA:3121 |
Myopathy, Tubular Aggregate, 1 |
|
Weakness of the intrinsic hand muscles, Abnormal pupil morphology, Flexion contracture, Joint con... |
OMIM:160565 |
Hypophosphatasia, Infantile |
|
Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Abnormality of the dentition, ... |
OMIM:241500 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Delayed... |
ORPHA:2511 |
Werner Syndrome |
|
Cataract, Hypogonadism, Retinal degeneration, Premature arteriosclerosis, Convex nasal ridge, Sho... |
OMIM:277700 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Optic atrophy, Flared metaphysis... |
OMIM:218400 |
Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Long philtrum, Umbilical hern... |
OMIM:616638 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Orofacial cleft, Hydrocephalus, Ocular anterior segment dysgenesis, Deve... |
ORPHA:324416 |
Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Cataract, Small scrotum, Depressed nasal bridge, Clinodactyly, Overlapping toe, O... |
OMIM:617822 |
Momo Syndrome |
|
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Chorioretinal coloboma, Bilatera... |
ORPHA:2563 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Depressed... |
OMIM:617102 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Disproportionate shor... |
ORPHA:457395 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Clinodactyly, Micrognathia, Narrow mouth, Short nose, Wide nose, Slender finger, Downturned corne... |
ORPHA:391408 |
Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Cataract, Rectovaginal fistula, Delayed eruption of... |
OMIM:600373 |
Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... |
ORPHA:166277 |
Frank-Ter Haar Syndrome |
|
Megalocornea, Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipes equ... |
OMIM:249420 |
Hec Syndrome |
|
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Vaginal hydrocele, Abnormal retinal vascul... |
ORPHA:2119 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Small scrotum, Underdeveloped nasal alae, Camptodactyly of finger, Intrauterine growth retardatio... |
ORPHA:2083 |
16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, High, narrow palate, Prominent fingertip pads, Retrognathia, Bilateral cryptorc... |
ORPHA:485405 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Precocious puberty, Anteverted na... |
OMIM:619356 |
Apert Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Large fontanelles, Aplasia/Hypoplasia of the thum... |
ORPHA:87 |
Seckel Syndrome 2 |
|
Microglossia, Growth delay, Prominent nose, Micrognathia, Heart murmur, Microdontia, Microphthalm... |
OMIM:606744 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Microcornea, Long philtrum, Congestive heart failure, Umbilical hernia, Micrognath... |
ORPHA:2505 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Pigmentary retinopathy, Choroidal neovascularization, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Short nose |
OMIM:155050 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu valgum, Genu varum, Short nose, Short dental root, Osteopenia, Disproportionate short-limb s... |
OMIM:271510 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Cataract, Umbilical hernia, Intrauterine growth retardation, Large fo... |
OMIM:219150 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Depressed nasal bridge, Broad hallux, Retinal pigment epithelial mottling, Long philtru... |
OMIM:614105 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Underdeveloped nasal alae, Downturned corners of mouth, Long phi... |
ORPHA:353298 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose |
ORPHA:1450 |
Trisomy 17P |
|
Aortic valve stenosis, Micrognathia, Narrow mouth, High palate, Patent ductus arteriosus, Wide no... |
ORPHA:261290 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Retinal thinning, Genu valgum, Asteroid hyalosis, Narrow mouth, B... |
OMIM:132450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Optic atrophy, Congenital contracture, Peters anomaly, Cleft upper lip, Megalocornea, O... |
OMIM:236670 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... |
OMIM:180700 |
Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Microcornea, Diastema, Supernumerary maxillary incisor, Prominent n... |
OMIM:302350 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short distal phalanx of finger, Broad columella, Underdeveloped nasal alae, Hypoautofluorescent r... |
OMIM:250410 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... |
OMIM:235510 |
Woolly Hair Nevus |
|
Precocious puberty, Heterochromia iridis, Brachydactyly, Persistent pupillary membrane, Widely-sp... |
ORPHA:79414 |
Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract, Carious teeth, High iliac wing, Hypoplasia of the maxilla, Delayed ... |
ORPHA:50814 |
Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Patellar aplasia, Cryptorchidism, Telangiectasia, Premature ovarian insufficiency,... |
ORPHA:221008 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Finger syndactyly, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovar... |
ORPHA:2215 |
Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... |
ORPHA:50945 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Micrognathia, Osteopetrosis, Microphthalmia, Iris transillumination defect... |
OMIM:617306 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Sub-RPE deposits, Chorioretinal ... |
OMIM:605670 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... |
OMIM:613731 |
Aymé-Gripp Syndrome |
|
Reduced arm span, Limitation of joint mobility, Megalocornea, Delayed cranial suture closure, Pos... |
ORPHA:1272 |
Mirage Syndrome |
|
Microphallus, Radial club hand, Decreased testicular size, Overlapping fingers, Adrenal insuffici... |
OMIM:617053 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Optic atrophy, Joint hypermobility, Wormian bones, Brachydactyly,... |
ORPHA:2787 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Cataract, Gastrointestinal hemorrhage, Optic atrophy, Arteriovenous malformation, Pulmonary embol... |
ORPHA:394 |
Aspergillosis |
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Keratitis, Nasal congestion, Osteomyelitis, Abnormal long bone morphology, Stroke, Sinusitis, Abn... |
ORPHA:1163 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Postnatal growth retardation, Arrhythmia, Long nose, Hypospadias, Pierre-Robin sequence, Bicorona... |
OMIM:619184 |
Distal Deletion 10Q |
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Clinodactyly, Postnatal growth retardation, Micrognathia, High palate, Patent ductus arteriosus, ... |
ORPHA:96148 |
Trichorhinophalangeal Syndrome, Type Iii |
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Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Underdeve... |
OMIM:190351 |
Van Maldergem Syndrome 2 |
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Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Irregular dentition, Tal... |
OMIM:615546 |
Pfeiffer Syndrome |
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Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... |
OMIM:101600 |
Isolated Ectopia Lentis |
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Cataract, Mandibular prognathia, Ectopia lentis, Ectopia pupillae, Joint stiffness, Malar flatten... |
ORPHA:1885 |
Foxp1 Syndrome |
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Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ... |
ORPHA:391372 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Cataract, Optic atrophy, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, R... |
ORPHA:1473 |
Marbach-Rustad Progeroid Syndrome |
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Growth delay, Eruption failure, Intrauterine growth retardation, Micrognathia, Reduced bone miner... |
OMIM:619322 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Hypoplastic iliac wing... |
OMIM:210720 |
Focal Dermal Hypoplasia |
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Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Open bite, Microphthalmia, Iris colobo... |
ORPHA:2092 |
Pycnodysostosis |
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Aplastic clavicle, Narrow palate, Carious teeth, Persistent open anterior fontanelle, Persistence... |
OMIM:265800 |
Osteogenesis Imperfecta, Type Xxii |
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Dentinogenesis imperfecta, Slender long bone, Decreased circulating osteocalcin level, Intrauteri... |
OMIM:619795 |
Epiphyseal Dysplasia, Multiple, 1 |
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Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Severe short stature, ... |
OMIM:132400 |
Coffin-Siris Syndrome 3 |
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Depressed nasal bridge, Long philtrum, Umbilical hernia, Anteverted nares, Wide mouth, Intrauteri... |
OMIM:614608 |
Craniofacial-Deafness-Hand Syndrome |
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Depressed nasal ridge, Hypoplasia of the maxilla, Ulnar deviation of finger, Depressed nasal brid... |
ORPHA:1529 |
Pseudohypoparathyroidism Type 1C |
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Short metacarpal, Cataract, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd me... |
ORPHA:79444 |
Difference Of Sex Development-Intellectual Disability Syndrome |
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Small scrotum, Downturned corners of mouth, Hypogonadism, Genu valgum, Short philtrum, Thin vermi... |
ORPHA:2983 |
Melnick-Needles Syndrome |
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Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Tooth malposition, De... |
ORPHA:2484 |
Treacher-Collins Syndrome |
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Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Microphthalm... |
ORPHA:861 |
Char Syndrome |
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