| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... |
OMIM:611561 |
| Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Occipital encephalocele, Enlarged kidney, Microphthalmia, Encephalocele, Narrow ches... |
OMIM:613885 |
| Meckel Syndrome, Type 2 |
|
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... |
OMIM:603194 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Hypospadias, Anencephaly, Dandy-Walker malformation, Postaxial hand poly... |
OMIM:614175 |
| Immune Thrombocytopenia |
|
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... |
ORPHA:3002 |
| Meckel Syndrome, Type 4 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... |
OMIM:611134 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... |
OMIM:184260 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Stillbirth, Abnormal hip bone morphology, Renal agenesis, Upper limb phocomelia, Cle... |
ORPHA:294975 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... |
OMIM:113100 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o... |
ORPHA:2839 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3... |
OMIM:236500 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Long philtrum, Abnormal fibula morphology, Polycystic kidney dysplasia,... |
ORPHA:1988 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Purpura, Pulmonary embolism |
OMIM:612304 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Agenesis of corpus callosum... |
OMIM:614120 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Renal cyst, Postaxial polydacty... |
OMIM:614815 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short long bone, Flat acetabular roof, Short ribs, Microdontia, Mesomelia, Syndactyly, Short dist... |
OMIM:614091 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviatio... |
ORPHA:1692 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly, Microcephaly, Cleft palate, Short distal phalanx of f... |
OMIM:601355 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Distal Deletion 13Q |
|
Abnormality of the hand, Renal hypoplasia/aplasia, Anencephaly, Abnormal metacarpal morphology, E... |
ORPHA:1590 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... |
OMIM:618167 |
| Microphthalmia/Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Short long bone, Femoral bowing, Short ribs, Absent tibia, Intestinal malrotatio... |
OMIM:613091 |
| C Syndrome |
|
Radial deviation of finger, Dislocated radial head, Renal cortical cysts, Thick anterior alveolar... |
OMIM:211750 |
| Schisis Association |
|
Anencephaly, Encephalocele, Anal atresia, Spina bifida, Renal agenesis, Micromelia, Tracheoesopha... |
ORPHA:63862 |
| Gombo Syndrome |
|
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Urinary incontinence, Sandal gap, Short philtrum, Single trans... |
OMIM:617927 |
| Hydrolethalus |
|
Gingival cleft, Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydact... |
ORPHA:2189 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Narrow chest, Hydrocephalus... |
OMIM:616546 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi... |
ORPHA:2476 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:615397 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... |
OMIM:186000 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Polycystic kidney dysplasia, 2-3 toe syndactyl... |
OMIM:617866 |
| Cousin Syndrome |
|
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... |
OMIM:260660 |
| Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Short long bone, Short ribs, Intestinal malrotation, Cystic renal dysplasia, Short f... |
OMIM:269860 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Anencephaly, Microcephaly, Overlapping toe, Penoscrotal transposition, Advanced e... |
OMIM:619148 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Renal hypoplasia/aplasia, Hydranencephaly, Enlarged thorax, Limitation of joint mobility, Microce... |
ORPHA:2570 |
| Syndactyly, Type Iv |
|
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... |
OMIM:186200 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Postaxial hand polyd... |
OMIM:612284 |
| Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Bell-shaped thorax, Hydranencephaly, Meningocele, Tracheomalacia,... |
ORPHA:1393 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic leg shortening, Occipital encephalocele, Short ribs, Abnormal 5th metacarpal morpholog... |
ORPHA:397715 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... |
OMIM:174500 |
| Jawad Syndrome |
|
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... |
OMIM:251255 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Meningocele, Hydr... |
ORPHA:1908 |
| Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit... |
OMIM:164180 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microphthalmia, Intrauterine growth retardation, Cerebellar hypoplasia, Edema... |
OMIM:616570 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Microphthalmia, Short long bone, Flat acetabular roof, Short ribs, ... |
OMIM:616300 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Ectopic kidney, Hypospadias, Hypoplasia of penis, Finger syndactyly, Ane... |
ORPHA:887 |
| Crossed Polysyndactyly |
|
Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philt... |
ORPHA:2935 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Myelomeningocele, M... |
ORPHA:66637 |
| Pentalogy Of Cantrell |
|
Orofacial cleft, Abnormal tibia morphology, Hypospadias, Anencephaly, Encephalocele, Hydrocephalu... |
ORPHA:1335 |
| Trisomy 13 |
|
Bilateral single transverse palmar creases, High, narrow palate, Microphthalmia, Narrow chest, An... |
ORPHA:3378 |
| Anophthalmia Plus Syndrome |
|
Tessier cleft, Anophthalmia, Bilateral cleft palate, Non-midline cleft of the upper lip, Spina bi... |
ORPHA:1104 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Coloboma, Microphthalmia |
OMIM:613094 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly, Agenesis... |
OMIM:615665 |
| Trisomy 18 |
|
Bilateral single transverse palmar creases, Microphthalmia, Abnormal hip bone morphology, Anencep... |
ORPHA:3380 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... |
OMIM:615633 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... |
ORPHA:2216 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele, Abnormality of the urinary system, Agenesis of ce... |
OMIM:213010 |
| Trisomy 17P |
|
Orofacial cleft, Clinodactyly of the 5th finger, Hypoplasia of penis, Hydrocephalus, Polycystic k... |
ORPHA:261290 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Nephronophthisis, Coloboma, Micropenis, Exencephaly |
OMIM:614464 |
| Orofaciodigital Syndrome Iv |
|
Cerebral atrophy, Short finger, Hamartoma of tongue, Tongue nodules, High palate, Porencephalic c... |
OMIM:258860 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Joubert Syndrome 14 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Sho... |
OMIM:614424 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervi... |
ORPHA:63260 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... |
OMIM:311895 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Diprosopus |
|
Non-midline cleft of the upper lip, Cleft palate, Anencephaly |
ORPHA:1681 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Hypoplasia of the corpus callosum, Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped... |
OMIM:617102 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplasia of the corpus callosum, Preaxial polydactyly, Unilateral renal agenesis, Lissencephaly... |
OMIM:618142 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly, Renal insufficiency, Renal cyst |
OMIM:615987 |
| Trisomy 1Q |
|
Congenital megaureter, Anophthalmia, Hydrocephalus, Short thorax, Narrow mouth, Anal atresia, Abn... |
ORPHA:261344 |
| Meckel Syndrome |
|
Microphthalmia, Ureteral duplication, Anencephaly, Microcephaly, Encephalocele, Hydrocephalus, Da... |
ORPHA:564 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, ... |
OMIM:146510 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Microphthalmia, Radial deviation of finger, Anencephaly, Intestinal malr... |
OMIM:249000 |
| Joubert Syndrome 7 |
|
Genu valgum, Nephronophthisis, Encephalocele, Abnormal corpus callosum morphology, Postaxial hand... |
OMIM:611560 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Intestinal malrotation, Neonatal death, Cleft palate |
OMIM:615524 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... |
ORPHA:1106 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia |
OMIM:617562 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Pectus carinatum, Short long bone, Short ribs, Intestin... |
OMIM:263520 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndactyly, Thick corp... |
OMIM:615938 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... |
ORPHA:139471 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Neonatal death, Renal cyst, Epiphyseal stippling |
OMIM:614870 |
| Orofaciodigital Syndrome Vi |
|
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... |
OMIM:277170 |
| Houge-Janssens Syndrome 2 |
|
Hypoplasia of the corpus callosum, Unilateral renal agenesis, Hydrocephalus, Pectus excavatum, Po... |
OMIM:616362 |
| Cerebrooculonasal Syndrome |
|
Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, Hypoplasia of peni... |
ORPHA:66625 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Cleft palate |
OMIM:612913 |
| Tarp Syndrome |
|
Rocker bottom foot, Meckel diverticulum, Glossoptosis, Pectus excavatum, Tongue nodules, Clinodac... |
OMIM:311900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Triphalangeal Thumb With Polysyndactyly |
|
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... |
OMIM:190605 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplasia of the corpus callosum, Y-shaped metacarpals, Postaxial polydactyly, Renal hypoplasia,... |
OMIM:615996 |
| Orofaciodigital Syndrome I |
|
Radial deviation of finger, Myelomeningocele, Microcephaly, Ovarian cyst, Syndactyly, Tongue nodu... |
OMIM:311200 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Aplasia/Hypoplasia o... |
OMIM:612651 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic... |
ORPHA:3103 |
| Fanconi Anemia, Complementation Group O |
|
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Renal cyst, Anal atresia, Dea... |
OMIM:613390 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... |
OMIM:174200 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Joubert Syndrome 16 |
|
Polydactyly, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Coloboma, Renal cyst |
OMIM:614465 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... |
OMIM:617610 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Rocker bottom foot, Renal cortical microcysts, Hypospadias, Polymicrogyria, Ulnar deviation of th... |
OMIM:214100 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Increase... |
OMIM:113650 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly |
OMIM:615984 |
| Jeune Syndrome |
|
Abnormal metaphysis morphology, Abnormal clavicle morphology, Nephronophthisis, Narrow chest, Sho... |
ORPHA:474 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Narrow greater sciatic notch, Polycystic kidney dysplasia, Short long bone, Decreased skull ossif... |
OMIM:263210 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618498 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Polycystic kidney dysplasia, Dandy-Walker malformation,... |
ORPHA:314588 |
| Limb Body Wall Complex |
|
Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology... |
ORPHA:2369 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Renal agenesis, Bifid dista... |
OMIM:120400 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Thin vermilion border, Hypospadias, High palate, Narrow mouth, Postaxial polydactyly, Microcephal... |
ORPHA:544254 |
| Multiple Synostoses Syndrome 3 |
|
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... |
OMIM:612961 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Cut... |
ORPHA:166024 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Sandal gap, Postaxial hand polydactyly, High palate, Ankyloglossia, Postax... |
OMIM:174300 |
| Congenital Disorder Of Glycosylation, Type If |
|
Cerebral atrophy, Thin vermilion border, Renal cortical cysts, Death in infancy, Microcephaly, Fl... |
OMIM:609180 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Microcephaly, Cleft palate, Proximal renal tubular acidosis, S... |
OMIM:181180 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Syndactyly, Bra... |
OMIM:615982 |
| Joubert Syndrome 37 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia, High palate, Pos... |
OMIM:619185 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Tracheoesopha... |
ORPHA:2538 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Epiphyseal stippling |
OMIM:614859 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia |
OMIM:615113 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Verheij Syndrome |
|
Cerebral atrophy, Long philtrum, Optic nerve hypoplasia, Coloboma, Branchial cyst, Renal cyst, Re... |
OMIM:615583 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... |
OMIM:231680 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe, Short thumb, Short 5th finger |
OMIM:176305 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Short ribs, Postaxial hand polydactyly, Micromelia, Death... |
OMIM:241800 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly |
OMIM:614970 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Abnormal cortical gyration, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malf... |
ORPHA:899 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Microphthalmia, Abnormal cortical gyration, Hypospadias, Anencephaly, Upper limb unde... |
OMIM:236680 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly |
OMIM:607539 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Short philtrum, Coloboma, Bullet-shaped distal phalanx of the hallux, Camptodacty... |
ORPHA:1617 |
| Microhydranencephaly |
|
Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Pachygyria, Cerebellar hypoplasia, Mu... |
OMIM:605013 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Nephronophthisis, Aplasia/Hypoplasia of the cerebellar vermis, Renal cor... |
OMIM:610188 |
| Coffin-Lowry Syndrome |
|
Pectus carinatum, Short metacarpal, Everted lower lip vermilion, Pectus excavatum, Microcephaly, ... |
OMIM:303600 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Death in infancy, Microcephaly, Long toe, Narrow palate, B... |
OMIM:608836 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Microphthalmia, Polycystic kidney dysplasia, Postaxial hand polydactyly,... |
OMIM:619879 |
| Acrorenal-Mandibular Syndrome |
|
Split foot, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Narrow palate, Pol... |
OMIM:200980 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Dandy-Walker malformation, Postaxial hand polydactyly |
ORPHA:1566 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, High palate, Limitation of joint mobility, Pec... |
ORPHA:376 |
| Frontonasal Dysplasia 1 |
|
Widely-spaced maxillary central incisors, Radial deviation of finger, Microphthalmia, Pectoral mu... |
OMIM:136760 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... |
OMIM:607361 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Hem... |
OMIM:615937 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Hypospadias, Sandal gap, Dental crowding, Postaxial polydactyly, ... |
OMIM:615761 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Microphthalmia, Proximal placement of thumb, Short philtrum, Cerebral white ... |
ORPHA:435638 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal i... |
OMIM:615993 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Bresek Syndrome |
|
Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Vesicoureteral refl... |
ORPHA:85284 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Pseudoachondroplasia |
|
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular... |
ORPHA:750 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Joint co... |
OMIM:225790 |
| Iniencephaly |
|
Rocker bottom foot, Orofacial cleft, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy... |
ORPHA:63259 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency |
OMIM:615991 |
| Campomelia, Cumming Type |
|
Abnormal intestine morphology, Pancreatic cysts, Bowing of the long bones, Abnormally ossified ve... |
ORPHA:1318 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormal palate morphology, Abnormality of the dentition, Pectus excavatum, Carious teeth, Radiou... |
ORPHA:3270 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Cerebrooculonasal Syndrome |
|
Narrow palate, Hypoplasia of the corpus callosum, Solitary median maxillary central incisor, Ence... |
OMIM:605627 |
| Femoral-Facial Syndrome |
|
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Long philtrum... |
OMIM:134780 |
| Nephronophthisis 14 |
|
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Swollen lip, Primary microcephaly... |
OMIM:256520 |
| Joubert Syndrome 36 |
|
Mesoaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:618763 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand poly... |
ORPHA:2091 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin vermilion border, Abnormal renal morphology, High palate, Anal atresia, Postaxial polydactyl... |
OMIM:613792 |
| Arthrogryposis, Distal, Type 1C |
|
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... |
OMIM:619110 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... |
OMIM:615297 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Micropenis, Syndactyly, Brachydactyly |
OMIM:615983 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Death in infancy, ... |
OMIM:210710 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis |
OMIM:613824 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cubitus valgus, Hypospadias, Epiphyseal stippling, Polycystic kidney dysplasia, Single transverse... |
OMIM:614866 |
| Abruzzo-Erickson Syndrome |
|
Abnormal palate morphology, Hypospadias, Abnormal localization of kidney, Coloboma, Cleft palate,... |
ORPHA:921 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... |
OMIM:617967 |
| Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Abnor... |
ORPHA:971 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia, Molar tooth sign on MRI |
OMIM:619582 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Hajdu-Cheney Syndrome |
|
Dislocated radial head, Intestinal malrotation, Crowded carpal bones, Umbilical hernia, Long phil... |
OMIM:102500 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Death in childhood, Cubitus valgus, Polycystic kidney dysplasia, Single transverse palmar crease,... |
OMIM:214110 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Cerebellar atrophy, Hypoplasia of the pons, Intrauterine growth retardation, Cere... |
OMIM:616171 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Microphthalmia, Short long bone, Short ribs, Esophageal diverticulu... |
OMIM:617925 |
| Mesomelic Limb Shortening And Bowing |
|
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft palate, Bowing... |
OMIM:249710 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Cleft palate, Hypospadias, Radioulnar synostosis |
OMIM:302905 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Cerebral atrophy, Global brain atrophy, Polycystic kidney dysplasia, Microcephaly, Wide mouth, Lo... |
OMIM:608776 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Cerebellar vermis hypoplasia, Polyc... |
OMIM:619562 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... |
ORPHA:957 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Postaxial hand polydactyly, Duplication of... |
OMIM:617127 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... |
OMIM:602088 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Abnormal hip bone morphology, Abnormal lower lip morphology, Vesicouret... |
ORPHA:1166 |
| Arima Syndrome |
|
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... |
OMIM:243910 |
| Focal Dermal Hypoplasia |
|
Midclavicular aplasia, Microphthalmia, Ureteral duplication, Aniridia, Short ribs, Short metacarp... |
OMIM:305600 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Microphthalmia, Hypospadias, Hydrocephalus, Coloboma |
ORPHA:141333 |
| Congenital Herpes Simplex Virus Infection |
|
Microcephaly, Hydranencephaly |
ORPHA:293 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,... |
OMIM:611263 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... |
OMIM:617405 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation |
OMIM:223200 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Intest... |
ORPHA:404440 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Esophageal varix, Panc... |
OMIM:263200 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:1113 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microphthalmia, Retrocerebellar cyst, Cerebellar hypoplasia, Hypoplasia ... |
OMIM:617255 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... |
ORPHA:3104 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly, Renal dysplasia, Hypospadias |
OMIM:615985 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Renal ... |
OMIM:615986 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar cyst, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, C... |
OMIM:615181 |
| Eiken Syndrome |
|
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... |
ORPHA:79106 |
| Aase-Smith Syndrome |
|
Abnormal hip bone morphology, Dandy-Walker malformation, Slender finger, Joint stiffness, Camptod... |
ORPHA:916 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hypospadias, Esophageal atresia, Hypoplasia of penis, Hydrocephalus, 11 pairs of ... |
ORPHA:77298 |
| 15q26 overgrowth syndrome |
|
Abnormality of the kidney, Long philtrum, Horseshoe kidney, Craniosynostosis, Polycystic kidney d... |
DECIPHER:81 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Broad finger, Perianal abscess, Pectus carinatum, Upturned corners of mouth, Pectus excavatum, Sh... |
OMIM:614684 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... |
OMIM:132400 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Microphthalmia, Hypoplasia of the brainstem |
OMIM:615771 |
| Polycystic Kidney Disease 7 |
|
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... |
OMIM:620056 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypopla... |
OMIM:617926 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Isolated Osteopoikilosis |
|
Abnormality of the kidney, Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal ... |
ORPHA:166119 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Thin corpus callosum, Cerebral calcification, Everted lower lip vermilion, Pectus excavatum, Corp... |
OMIM:620371 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Broad thumb, Short finger, High palate, Postaxial hand polydactyly |
OMIM:300209 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Unilateral renal... |
OMIM:614576 |
| Rhyns Syndrome |
|
Osteopenia, Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, A... |
ORPHA:140976 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization |
OMIM:193235 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... |
OMIM:617895 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Syndactyly, Umbilical hernia, Craniosynostosis, Hypospadias, Hydrocephalus, Postaxia... |
OMIM:175700 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Finger syndactyly, Hydrocephalus, Postaxial hand polydactyly, Broad thumb, Broa... |
ORPHA:380 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Renal hypoplasia, Brachydactyly |
OMIM:600151 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease, Coloboma, Cleft upper lip, Cleft palate, Tessier number 4 fac... |
OMIM:600251 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... |
OMIM:602501 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Camptodactyly... |
OMIM:300244 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Cleft palate, Joint hypermobility... |
OMIM:610125 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts, Bowing of the long bones |
OMIM:211890 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Short philtrum, Anophthalmia, Everted lower lip vermilion, Hyp... |
ORPHA:411986 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hypoplasia of the corpus callosum, Long philtrum, Abnormal cortical gyration, Cerebellar hypoplas... |
OMIM:300968 |
| Metatropic Dysplasia |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... |
ORPHA:2635 |
| Orofaciodigital Syndrome Type 5 |
|
Abnormal oral frenulum morphology, Microcephaly, Bifid uvula, Accessory oral frenulum, Aganglioni... |
ORPHA:2919 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypospadias, Gingival overgrowth, Pectus excavatum, Microcephaly, Cleft palate, Short distal phal... |
ORPHA:2013 |
| Thomas Syndrome |
|
Cleft upper lip, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate |
ORPHA:3316 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Long philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Po... |
OMIM:606232 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... |
DECIPHER:46 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Molar tooth sign on MRI, Genu valgum, Lymphedema, Epiphyseal dysplasia, Clinodactyly... |
OMIM:607131 |
| Mosaic Trisomy 14 |
|
Bilateral single transverse palmar creases, Hypospadias, Narrow chest, Hypoplasia of penis, Ectop... |
ORPHA:1703 |
| Galloway-Mowat Syndrome 7 |
|
Cubitus valgus, Microcephaly, Minimal change glomerulonephritis, Hallux valgus, Single transverse... |
OMIM:618348 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele, Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
| Solitary Median Maxillary Central Incisor |
|
Cyclopia, Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Coloboma, Prom... |
OMIM:147250 |
| Acromicric Dysplasia |
|
Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal, Short foot, Short pal... |
OMIM:102370 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morpho... |
ORPHA:280195 |
| Mmep Syndrome |
|
Split foot, Microphthalmia, Triphalangeal thumb |
ORPHA:3434 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hypoplasia of the corpus callosum, Megalencephaly, Abnormally large globe, Hydrocephalus, Polymic... |
OMIM:603387 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hyp... |
OMIM:613155 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, High, narrow palate, Hydrocephalus, Myo... |
ORPHA:228308 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Microdontia, Overlapping t... |
ORPHA:221120 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metaphysis morphology, Thin vermilion border, Abnormal hip bone morphology, Abnormal met... |
ORPHA:2631 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Long philtrum, Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb... |
OMIM:619721 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly, Renal cyst, Hypospadias |
OMIM:605231 |
| Acalvaria |
|
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Cleft palate, Holoprosencephaly, Aplasia... |
ORPHA:945 |
| Aminopterin Syndrome Sine Aminopterin |
|
Megalencephaly, Oligodontia, High palate, Umbilical hernia, Arachnodactyly, Rudimentary postaxial... |
OMIM:600325 |
| Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... |
ORPHA:90650 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Lateral clavicle hook, Orofacial cleft, Genu valgum, Nephronophthisis, Bell-shaped thorax, Cone-s... |
OMIM:615630 |
| Moebius Syndrome |
|
Microphthalmia, Radial deviation of finger, Hypoplasia of the brainstem, Split hand, Abnormal pel... |
OMIM:157900 |
| Orofaciodigital Syndrome Ii |
|
Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, ... |
OMIM:252100 |
| Cardioacrofacial Dysplasia 1 |
|
Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Limb undergrowth, Long thorax,... |
OMIM:619142 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Anteriorly placed anus, Everted lower lip vermilion, Camptodactyly,... |
OMIM:619980 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/hypoplasia involving bones of the hand, Hypospadias, Anencephaly, Absent foot, Aplasia/Hy... |
ORPHA:96176 |
| Tarp Syndrome |
|
Rocker bottom foot, Horseshoe kidney, Finger syndactyly, Single transverse palmar crease, Abnorma... |
ORPHA:2886 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Thoracic kyphosis, Microcephaly, Arachnodactyly, Large hands, Cleft palate, Cleft lip |
OMIM:300263 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Micromelia |
ORPHA:291 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Microphthalmia, Ectopic kidney, Death in infancy, Neonatal death, Cerebel... |
OMIM:613730 |
| Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia, Radial deviation of finger, Wrist flexion contracture, Microcephaly, Short humeru... |
OMIM:268300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Anencephaly, 11 pairs of ribs, Hydrocephalus, Dandy-Walker malformation,... |
OMIM:615287 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Thin vermilion border |
ORPHA:79323 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Cerebral atrophy, Long philtrum, Thick lower lip vermilion, Triphalangeal thumb, Clinodactyly of ... |
OMIM:220500 |
| Hartsfield Syndrome |
|
Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Split hand, Lobar holoprosence... |
ORPHA:2117 |
| Thoracoabdominal Syndrome |
|
Anencephaly, Hypospadias, Hydrocephalus, Renal agenesis, Cleft upper lip, Cleft palate |
OMIM:313850 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Holoprosencephaly |
|
Microphthalmia, Solitary median maxillary central incisor, Hypoplasia of penis, Tooth agenesis, M... |
ORPHA:2162 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Molar tooth sign on MRI, Postaxial hand polydactyly, Postaxial fo... |
OMIM:617757 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly |
OMIM:610023 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... |
OMIM:183600 |
| Au-Kline Syndrome |
|
Lipomyelomeningocele, Pectus excavatum, Bifid uvula, Craniosynostosis, Overlapping toe, Dilatatio... |
OMIM:616580 |
| Distal Deletion 12Q |
|
Ectopic kidney, Microcephaly, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Long ph... |
ORPHA:96149 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... |
OMIM:602418 |
| Fliedner-Zweier Syndrome |
|
Hypoplasia of the corpus callosum, Long philtrum, Unilateral renal agenesis, Meningocele, High pa... |
OMIM:620511 |
| Otopalatodigital Syndrome Type 2 |
|
Glossoptosis, Flared iliac wing, Myelomeningocele, Anodontia, Fibular aplasia, Tarsal synostosis,... |
ORPHA:90652 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip |
OMIM:300484 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, ... |
OMIM:263630 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Vesicoureteral reflux, Pectus excavatum, Downturned corners of mouth, Smoot... |
OMIM:618548 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Hematuria, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma |
OMIM:120433 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Polyhydramnios, Cerebellar vermis hypoplasia, Postaxial hand polydactyly... |
OMIM:300804 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Hepatic cysts, Stage 5 c... |
OMIM:618061 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Coloboma, Cleft upper lip, Foot ol... |
OMIM:601357 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... |
OMIM:208500 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Hydrocephalus, Postaxial polydactyly, Hyperechogenic kidneys, Renal i... |
OMIM:219730 |
| Atelosteogenesis, Type Ii |
|
Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetab... |
OMIM:256050 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Delayed er... |
OMIM:612350 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Schneckenbecken Dysplasia |
|
Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short long bone, Flat acetabula... |
OMIM:269250 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn... |
OMIM:616730 |
| Nephronophthisis 15 |
|
Polydactyly, Cerebellar vermis hypoplasia, Nephronophthisis |
OMIM:614845 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Single transve... |
OMIM:617527 |
| Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Pectus carinatum, Short long bone, Short ribs, Cone-shaped epiphyses of p... |
OMIM:225500 |
| Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... |
OMIM:177170 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectu... |
OMIM:615777 |
| Ulbright-Hodes Syndrome |
|
Short ribs, Short metacarpal, Abnormal forearm bone morphology, Mesomelia, Short humerus, Hypopla... |
ORPHA:3404 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red... |
ORPHA:157 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar cyst, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the pons... |
OMIM:613153 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Microcephaly, Bifid uvula, Polydactyly, Ab... |
OMIM:607932 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... |
OMIM:605967 |
| Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Rhizomelia, Widely spaced teeth, Sandal gap, Narrow chest, 2-3 toe syndactyly, ... |
OMIM:614099 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... |
ORPHA:163966 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Pectus excavatum, Wide mouth, Long philtrum, Joint hypermobility, Cone-shaped epiphysis, Renal at... |
OMIM:618659 |
| Triploidy |
|
Hypospadias, Narrow chest, Meningocele, Finger syndactyly, Hydrocephalus, Hypoplasia of penis, No... |
ORPHA:3376 |
| Coach Syndrome 1 |
|
Occipital encephalocele, Nephronophthisis, Unilateral renal agenesis, Encephalocele, Aplasia/Hypo... |
OMIM:216360 |
| Stromme Syndrome |
|
Stillbirth, Preaxial polydactyly, Iris coloboma, Microphthalmia, Hydrocephalus, Optic nerve hypop... |
OMIM:243605 |
| Duane-Radial Ray Syndrome |
|
Microphthalmia, Pectoralis hypoplasia, Sandal gap, Small thenar eminence, Short humerus, Absent t... |
OMIM:607323 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Dandy-Walker malformation, Cerebellar atrophy, Postaxial hand polydactyl... |
OMIM:617622 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad metacarpals, Microcephaly, Short phalanx of finger, Bro... |
OMIM:618724 |
| Pseudotrisomy 13 Syndrome |
|
Cyclopia, Microphthalmia, 11 pairs of ribs, Encephalocele, Hydrocephalus, Polymicrogyria, 2-3 toe... |
OMIM:264480 |
| Trichohepatoenteric Syndrome 1 |
|
Large placenta, Hypospadias, Galactosuria, Narrow mouth, Renal cortical microcysts, Bifid uvula, ... |
OMIM:222470 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Macular coloboma, Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger,... |
OMIM:216800 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Osteopenia, Cerebral atrophy, Lambdoidal craniosynostosis, Hydroureter, H... |
OMIM:615398 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
| Renal Tubular Dysgenesis |
|
Bilateral single transverse palmar creases, Proximal tubulopathy, Nephropathy, Microcephaly, Mult... |
ORPHA:3033 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Thin corpus callosum, Small epiphyses, Short... |
OMIM:620269 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| 15Q24 Microdeletion Syndrome |
|
Abnormal thumb morphology, Long philtrum, Abnormal palate morphology, Thick lower lip vermilion, ... |
ORPHA:94065 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Recurrent urinary tract infections, Limited elbow extension and s... |
OMIM:244600 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Long philtrum, Abnormal bone ossification, Microphthalmia, Abnormal femoral neck/head morphology,... |
ORPHA:163649 |
| Joubert Syndrome 2 |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Microphthalmia, Encephalocele, Elon... |
OMIM:608091 |
| Floating-Harbor Syndrome |
|
Dislocated radial head, Short metacarpal, Microdontia, Nephrocalcinosis, Wide mouth, Congenital p... |
ORPHA:2044 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Esophageal varix |
OMIM:618955 |
| Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Solitary median maxillary central incisor, Conical tooth, Postaxi... |
OMIM:193530 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Abnormal metacarpal morphology, Pectus carinatum, Glossoptosis, Pectus excavatum, Cleft palate, O... |
ORPHA:166100 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... |
ORPHA:352665 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... |
OMIM:145001 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Narrow chest, Oligodactyly, Narrow mouth, Forearm undergrowt... |
OMIM:251230 |
| Carpenter Syndrome 1 |
|
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... |
OMIM:201000 |
| Acrofacial Dysostosis, Catania Type |
|
Hypoplasia of the corpus callosum, Hypospadias, Spina bifida occulta, Cerebellar vermis hypoplasi... |
OMIM:101805 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short metacarpal, Short lo... |
ORPHA:56304 |
| Cerebrocostomandibular Syndrome |
|
Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Microcephaly, Short humerus, ... |
OMIM:117650 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol... |
ORPHA:93307 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Cofs Syndrome |
|
Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia, Aplasia/Hypoplasia of t... |
ORPHA:1466 |
| Arthrogryposis, Distal, Type 3 |
|
Single transverse palmar crease, Ulnar deviation of the hand or of fingers of the hand, High pala... |
OMIM:114300 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Split hand, Camptodactyly, Narrow mouth, Renal hypoplasia, Cleft palate |
OMIM:246560 |
| Trisomy 8Q |
|
Orofacial cleft, Deep palmar crease, Hypoplasia of penis, Bone cyst, Non-midline cleft of the upp... |
ORPHA:1752 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Anophthalmia, Hydr... |
ORPHA:3412 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupping, Hypoplasi... |
OMIM:300863 |
| Harrod Syndrome |
|
Abnormal shoulder morphology, Hypospadias, High palate, Abnormal pelvic girdle bone morphology, N... |
ORPHA:2115 |
| Ectrodactyly-Polydactyly Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... |
ORPHA:1892 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Orofacial cleft, Microphthalmia, Hydrocephalus, Narrow mouth, Aplasia/Hypoplasia involving the pe... |
ORPHA:3301 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... |
ORPHA:1826 |
| Diaphanospondylodysostosis |
|
Absent in utero rib ossification, Enlarged kidney, Hammertoe, Talipes equinovarus, Tracheomalacia... |
OMIM:608022 |
| Microphthalmia, Syndromic 2 |
|
Microphthalmia, Sandal gap, Microcephaly, Bifid uvula, Umbilical hernia, Long philtrum, 2-3 toe c... |
OMIM:300166 |
| Holoprosencephaly 9 |
|
Microphthalmia, Thin corpus callosum, Solitary median maxillary central incisor, Bilateral cleft ... |
OMIM:610829 |
| Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne... |
OMIM:236700 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... |
OMIM:609945 |
| Diastrophic Dysplasia |
|
Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of... |
ORPHA:628 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Epispadias, Long philtrum, Abnormal cortical gyration, Hypospadias, Encephalocele, Lissencephaly,... |
ORPHA:2211 |
| Martsolf Syndrome 1 |
|
Microphthalmia, Slender ulna, Pectus carinatum, Short metacarpal, Pectus excavatum, Microcephaly,... |
OMIM:212720 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Limitation of joint mobility, High pal... |
ORPHA:3098 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... |
OMIM:601331 |
| Non-Distal Duplication 13Q |
|
Thin vermilion border, Narrow chest, High palate, Postaxial hand polydactyly, Everted lower lip v... |
ORPHA:1702 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Cerebellar cyst, Microphthalmia, Hydrocephalus, Abnormal brainstem morph... |
ORPHA:370959 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... |
ORPHA:1856 |
| Slc35A2-Cdg |
|
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Dan... |
ORPHA:356961 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Meningocele, Glossoptosis, Renal cyst, Chorioretinal coloboma, Mu... |
ORPHA:2031 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcificati... |
OMIM:302960 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
| Achondrogenesis, Type Ii |
|
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Abnormally large globe, Hypopla... |
OMIM:200610 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Rhizomelia, Hypospadias, Anophthalmia, 2-3 toe syndactyly, Coloboma, Long philtru... |
OMIM:615877 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My... |
ORPHA:93322 |
| Renpenning Syndrome |
|
Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Shor... |
ORPHA:3242 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Amelogenesis imperfecta, Genu valgum, Small epiphyses, Short thorax, Short long bone, High palate... |
OMIM:618363 |
| Joubert Syndrome 25 |
|
Cerebellar hypoplasia, Molar tooth sign on MRI |
OMIM:616781 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Long philtrum, High, narrow palate, Aniridia, Anophthalmia, Pectus excavatum, Camptodactyly of fi... |
ORPHA:1101 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Megalencephaly, Hydrocephalus, Polymicrogyria, Narrow mouth, Postaxial hand polydactyly, Abnormal... |
ORPHA:83473 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem m... |
ORPHA:1532 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... |
ORPHA:65759 |
| 14Q22Q23 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... |
ORPHA:264200 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Polyuria, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Short fourt... |
OMIM:615994 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Radial deviation of finger, Renal hypoplasia/aplasia, Dental crowding, Prominent ... |
OMIM:309800 |
| Greenberg Dysplasia |
|
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... |
OMIM:215140 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... |
OMIM:614078 |
| Charge Syndrome |
|
Microphthalmia, Tracheoesophageal fistula, Microcephaly, Umbilical hernia, Bifid femur, Aplasia/H... |
ORPHA:138 |
| Thanatophoric Dysplasia, Type Ii |
|
Temporal lobe dysplasia, Flared metaphysis, Short greater sciatic notch, Narrow chest, Wide-cuppe... |
OMIM:187601 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cervical ribs, Fibular aplasia, Abnormality of the kidney, Clinodactyly of the 5th finger, Fused ... |
ORPHA:3320 |
| Isolated Klippel-Feil Syndrome |
|
Renal hypoplasia/aplasia, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Ectopic ... |
ORPHA:2345 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Radial club hand, Microcephaly, Cleft palate, Holoprosencephaly, Abnormal morphology of... |
ORPHA:2165 |
| Atelosteogenesis Type I |
|
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Narrow che... |
ORPHA:1190 |
| Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... |
OMIM:311300 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... |
OMIM:266920 |
| Nephronophthisis 20 |
|
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... |
OMIM:617271 |
| Branchio-Oculo-Facial Syndrome |
|
Orofacial cleft, Non-midline cleft of the upper lip, Coloboma, High palate, Everted lower lip ver... |
ORPHA:1297 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split foot, Toe syndactyly, Cleft palate, Split hand |
OMIM:183700 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Hamartomatous stomach polyps, Abnormal sternum morphology, Calcification of falx ... |
OMIM:109400 |
| 22Q11.2 Deletion Syndrome |
|
Microphthalmia, Multiple suture craniosynostosis, Intestinal malrotation, Arachnodactyly, Microce... |
ORPHA:567 |
| Ruvalcaba Syndrome |
|
Limited elbow extension, Short metatarsal, Narrow chest, Dental crowding, Short metacarpal, Micro... |
OMIM:180870 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Unilateral renal agenesis, Hyd... |
ORPHA:457284 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Radial club hand, Short philtrum, Microcephaly, Aplasia/Hypoplasia affe... |
ORPHA:3305 |
| Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasi... |
ORPHA:959 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of penis, Tooth malposition, Anophthalmia, Failure of eruption of perm... |
ORPHA:2250 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... |
OMIM:184250 |
| Orofaciodigital Syndrome Type 3 |
|
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Thoracic kyphosis, Postaxial hand polyda... |
ORPHA:2752 |
| Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolescence, Neona... |
OMIM:619751 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... |
OMIM:186500 |
| Otospondylomegaepiphyseal Dysplasia |
|
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... |
ORPHA:1427 |
| Microphthalmia, Syndromic 3 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hypospadias, Esophageal atresia, Anophthalmia,... |
OMIM:206900 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Solitary median maxillary central incisor, Flexion contracture of the 2nd toe, Fl... |
ORPHA:2712 |
| Microphthalmia, Syndromic 8 |
|
Orofacial cleft, Microphthalmia, Split foot, Cleft upper lip, Microcephaly, Cleft palate, Widely-... |
OMIM:601349 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Polycystic kidney dysplasia, Sagittal craniosynostosis, Renal cyst, Umbilical hernia,... |
OMIM:610199 |
| Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
ORPHA:2438 |
| Pierpont Syndrome |
|
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Short palm, Short toe... |
OMIM:602342 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Renal hypoplasia/aplasia, Short ribs, Hypoplastic pelvis, Split foot, Tooth agene... |
ORPHA:2092 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level, Coloboma, Mi... |
OMIM:274270 |
| Pierpont Syndrome |
|
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Excessive wrinkling o... |
ORPHA:487825 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal |
OMIM:112410 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Hydrocephalus, Non-midline cleft of the upper lip, Postaxial hand polydactyly, Micro... |
ORPHA:2075 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the kidney, High, narrow palate, Radial deviation of finger, Aganglionic megacolon... |
OMIM:209900 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Microcephal... |
OMIM:618950 |
| Genitopalatocardiac Syndrome |
|
Cleft upper lip, Cleft palate, Hypospadias, Renal cyst |
OMIM:231060 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short long bone, Femoral bowing, Short... |
OMIM:615503 |
| Distal Monosomy 7Q36 |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... |
ORPHA:1636 |
| Fraser Syndrome 1 |
|
Renal hypoplasia/aplasia, Dental crowding, Myelomeningocele, Microcephaly, Aplasia/Hypoplasia of ... |
OMIM:219000 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Polycystic kidney dysplasia, Dandy-Walker malformation, Pancreatic cysts, Intest... |
OMIM:208540 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid distal phalanx of the thumb... |
OMIM:200990 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial deviation of the han... |
OMIM:227270 |
| Fryns Syndrome |
|
Rocker bottom foot, Microphthalmia, Ureteral duplication, Proximal placement of thumb, Meckel div... |
OMIM:229850 |
| Seckel Syndrome 1 |
|
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... |
OMIM:210600 |
| Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... |
OMIM:609583 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft upper lip, Cleft palate, Micropenis |
OMIM:615849 |
| Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Microphthalmia, Short thumb |
OMIM:609054 |
| Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S... |
OMIM:108720 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Short clavicles, Myelomeningocele, Broad thumb, Cleft palate, Craniosyno... |
ORPHA:60015 |
| Nail-Patella Syndrome |
|
Microphakia, Pectus excavatum, Disproportionate prominence of the femoral medial condyle, Biceps ... |
OMIM:161200 |
| Marden-Walker Syndrome |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Abnormal sternum morphology, Microcephaly,... |
OMIM:248700 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilater... |
OMIM:274000 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerv... |
OMIM:607597 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Aganglionic megacolo... |
ORPHA:2473 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebral atrophy, Long philtrum, High, narrow palate, Hypoplasia of the corpus callosum, Micropht... |
OMIM:618494 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Fraser Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of penis, Dental crowding, Myelomeningocele,... |
ORPHA:2052 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia... |
ORPHA:2491 |
| Congenital Factor X Deficiency |
|
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... |
ORPHA:328 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... |
ORPHA:1307 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Ectopic kidney, Dislocated radial head, Abnormal renal morphology, M... |
OMIM:122470 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Long philtru... |
OMIM:190351 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Gingival overgrowth, Abnormal intestine morphology, Abno... |
ORPHA:1834 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:2378 |
| Holzgreve Syndrome |
|
Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:2167 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Triangular mouth, Cerebellar vermis hypoplasia, Vesicoureteral reflux, Rena... |
OMIM:618460 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Orofaciodigital Syndrome Type 1 |
|
Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Con... |
ORPHA:2750 |
| Dysosteosclerosis |
|
Short ribs, Broad femoral neck, Broad ribs, Clavicular sclerosis, Abnormal metaphyseal trabeculat... |
OMIM:224300 |
| Fryns Syndrome |
|
Microphthalmia, Intestinal malrotation, Wide mouth, Long philtrum, Short distal phalanx of finger... |
ORPHA:2059 |
| Cockayne Syndrome Type 2 |
|
Hypoplasia of the primary teeth, Subcortical white matter calcifications, Anophthalmia, Enamel hy... |
ORPHA:90322 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Ectrodactyly, Tooth agenesis, Cleft upper lip, Cleft palate, Agenesis of corpus callo... |
OMIM:147950 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Thin ribs, Vesicoureteral reflux, Decreased calvarial ossification, Hydronephr... |
OMIM:618265 |
| Acrofacial Dysostosis, Weyers Type |
|
Tessier cleft, Advanced eruption of teeth, Clinodactyly of the 5th finger, Solitary median maxill... |
ORPHA:952 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Single transverse palmar crease, Absent distal phalanges, Retrocer... |
OMIM:614219 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High palate, Upper limb asymmetry |
ORPHA:231140 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Abnormal tongue morphology, Downturned corners of mouth, Hydronephrosis, Hip dysplas... |
ORPHA:531151 |
| Czeizel-Losonci Syndrome |
|
Congenital megaureter, Hitchhiker thumb, Hydrocephalus, Spina bifida occulta, Single transverse p... |
ORPHA:2437 |
| Marden-Walker Syndrome |
|
Renal hypoplasia/aplasia, Pectus carinatum, Pectus excavatum, Joint stiffness, Arachnodactyly, Mi... |
ORPHA:2461 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Microphthalmia, Hypoplasia of penis, Intestinal malrotation, Microcephaly, Mu... |
ORPHA:99776 |
| Prune Belly Syndrome |
|
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... |
ORPHA:2970 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Abnormal palate morphology, Clinodactyly of the 5th finger, Hypopl... |
ORPHA:3082 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow greater sciatic notch, Encephalocele, Narrow chest, Hydrocephalus, Short long bone, Limita... |
OMIM:224400 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Cerebellar hypoplasia, Hypospadias, Flared metaphysis, Short ribs, Decreased skull os... |
OMIM:616897 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... |
OMIM:613095 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Abnormality of the upper urinary tract, Micromelia, Abnormal rib m... |
ORPHA:2145 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ... |
ORPHA:1507 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Meckel diverticulum, ... |
OMIM:312870 |
| Joubert Syndrome 27 |
|
Polydactyly, Molar tooth sign on MRI |
OMIM:617120 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo... |
OMIM:228520 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... |
OMIM:305620 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... |
OMIM:176240 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... |
ORPHA:2756 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Syndactyly |
OMIM:617767 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Intestinal pseudo-obstruction, Finger syndactyly, Cerebral calcification, Fetal megacystis, Micro... |
ORPHA:73246 |
| Temtamy Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum |
ORPHA:1777 |
| Cleidocranial Dysplasia |
|
Glossoptosis, Decreased skull ossification, Abnormal epiphysis morphology, Abnormal metacarpal mo... |
ORPHA:1452 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Polycystic kidney dysplasia, Scapular winging, Ethylmalonic aciduria, 3-Methyl... |
ORPHA:26791 |
| 2Q37 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th finger... |
ORPHA:1001 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Microphthalmia, Pectus carinatum, Pectus excavatum, Ureteral stenosis, Microc... |
OMIM:272950 |
| Osteopathia Striata With Cranial Sclerosis |
|
Flexion contracture of toe, Dental crowding, Pectus excavatum, Intestinal malrotation, Arachnodac... |
OMIM:300373 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Short mandibular rami, Orofacial cleft, Renal hypoplasia/aplasia, Triphalangeal thumb, Aplasia/Hy... |
ORPHA:2549 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Progressive microcephaly, Short long bone, Glossoptosis, Microcephaly, Broad femoral neck, Long p... |
OMIM:611209 |
| Pelger-Huet Anomaly |
|
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th... |
OMIM:169400 |
| Apert Syndrome |
|
Limited elbow movement, Megalencephaly, Pectus carinatum, Broad thumb, Bifid uvula, Syndactyly, C... |
OMIM:101200 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Postaxial hand polydactyly, Renal cyst... |
OMIM:213300 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microphthalmia, Polyhydramnios, Symphalangism affecting the phalanges of... |
ORPHA:2547 |
| Crane-Heise Syndrome |
|
Hypoplasia of penis, Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebr... |
ORPHA:1512 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol... |
ORPHA:1422 |
| Bardet-Biedl Syndrome 21 |
|
Postaxial hand polydactyly, Abnormality of the dentition, Hypoplasia of the fovea, Hypodontia, Ho... |
OMIM:617406 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Joint hypermobility, Overlapping toe, Long philtrum, Aplasia/Hypoplasia of the cerebellum, Abnorm... |
ORPHA:480880 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Foot polydactyly, Renal agenesis, Aganglionic megacolon, Postaxial hand polydactyly |
ORPHA:2155 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Hypoplastic iliac wing, Short long bone, Short metacarpal, Pectus excavatum, Wide mouth, Thoracic... |
OMIM:611717 |
| Orofaciodigital Syndrome Ix |
|
High palate, Abnormality of the dentition, Camptodactyly, Retinal coloboma, Microcephaly, Hand po... |
OMIM:258865 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Microdontia, Talon cusp,... |
OMIM:605282 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Bowing of the long b... |
ORPHA:85166 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Trisomy 20P |
|
Reduced bone mineral density, Abnormal hip bone morphology, Everted lower lip vermilion, Microdon... |
ORPHA:261318 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Microphthalmia, Polyhydramnios |
ORPHA:261272 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydrocephalus, Dandy-Walker malformation, Coloboma, Anal atresia, Missing ribs, Clef... |
OMIM:220210 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho... |
OMIM:169550 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Cerebellar vermis atrophy, Bilateral microphthalmos, Atrophy/Degeneration affecting the brainstem... |
ORPHA:77299 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Orofacial cleft, Cyclopia, Renal hypoplasia/aplasia, Microphthalmia, Hypospadias, Encephalocele, ... |
ORPHA:2166 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Supernumerary tooth, Aplasia of the epiglottis, Horseshoe kidney, Narrow chest, Short clavicles, ... |
OMIM:617088 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... |
OMIM:114290 |
| Acrofrontofacionasal Dysostosis |
|
Hypospadias, Non-midline cleft of the upper lip, High palate, Abnormal epiphysis morphology, Ever... |
ORPHA:1784 |
| Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Hypospadias, Dandy-Walker malformation, Postax... |
ORPHA:36 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Joubert Syndrome 24 |
|
Talipes equinovarus, Polymicrogyria, Postaxial hand polydactyly, Pachygyria, Cerebellar hypoplasi... |
OMIM:616654 |
| Rhombencephalosynapsis |
|
Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Abnormal renal morphol... |
ORPHA:59315 |
| Seckel Syndrome 5 |
|
Abnormal cortical gyration, Clinodactyly of the 5th finger, Hypospadias, 11 pairs of ribs, Oligod... |
OMIM:613823 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Intestinal malrotation, Dandy-Walker malformation, Multicystic kidney dysplasia |
ORPHA:3032 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... |
OMIM:617805 |
| Joubert Syndrome 21 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Bell-shaped thorax, Encephalocele, An... |
OMIM:615636 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... |
ORPHA:464321 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Long philtrum, Short dista... |
OMIM:616331 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hypoplasia of the corpus callosum, Stillbirth, Death in childhood, Renal tubular acidosis, Renal ... |
OMIM:614922 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... |
OMIM:272460 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly |
OMIM:619981 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation, Slender finger, Death in infancy, Cleft palate, Flexion... |
OMIM:147800 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Vesicoureteral reflux, Renal hypoplasia, Duodenal stenosis, Horsesh... |
ORPHA:2470 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Tessier cleft, Ectopic kidney, 2-3 toe syndactyly, Narrow mouth, Microcephaly, Cleft upper lip, C... |
OMIM:239800 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly |
ORPHA:64754 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Pectus excavatum, Hip dysplasia, Joint ... |
ORPHA:3375 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Overlapping toe, Microphthalmia |
OMIM:600118 |
| Raine Syndrome |
|
Subperiosteal bone formation, Cerebral calcification, Pectus excavatum, Microdontia, Death in inf... |
OMIM:259775 |
| Curry-Jones Syndrome |
|
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, P... |
ORPHA:1553 |
| Ogden Syndrome |
|
Enlarged kidney, Everted upper lip vermilion, Sandal gap, Pectus excavatum, Microcephaly, Umbilic... |
OMIM:300855 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Everted lowe... |
OMIM:619736 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Pectus excavatum... |
OMIM:304120 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Narrow chest, Femoral bowing, Glossoptosis, Micromelia, Dumbbell-shaped long bone, Me... |
ORPHA:440354 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Microphthalmia, Intrauterine growth retardation, Ascites |
ORPHA:858 |
| Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... |
OMIM:617642 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Smith-Mccort Dysplasia 2 |
|
Limited elbow extension, Genu valgum, Short metatarsal, Barrel-shaped chest, Pectus carinatum, Fl... |
OMIM:615222 |
| Kapur-Toriello Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Iris col... |
OMIM:244300 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Narrow chest, Short long bone, Brachydactyly, Hepatic cysts, Stage 5 chronic kidney ... |
OMIM:613819 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma, Cortical tubers |
OMIM:600273 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Renal cortical cysts, Dandy-Walker malformation, Vesicoureteral reflux, Nephroli... |
OMIM:130650 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Horseshoe kidney, Short hallux, Finger syndactyly, Tracheomalacia, Vesicoure... |
ORPHA:93260 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow chest, Encephalocele, Clubbing of fingers, Hypoplastic pubic bone, Hydrocephalus, Miscarri... |
ORPHA:1865 |
| Carpenter Syndrome 2 |
|
Pectus carinatum, Pectus excavatum, Broad thumb, Umbilical hernia, Long philtrum, Craniosynostosi... |
OMIM:614976 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Sandal gap, Everted lower lip vermilion, Microcephaly, Long philtrum, Abnormal fi... |
ORPHA:251014 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Hypoplasia of the corpus callosum, Thin vermilion border, Patellar hypoplasia, Gingival overgrowt... |
ORPHA:464288 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Narrow mouth, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga |
OMIM:132450 |
| Cardioacrofacial Dysplasia 2 |
|
Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Narrow chest, Clubbin... |
OMIM:619143 |
| Kinsship Syndrome |
|
Dislocated radial head, Death in infancy, Microcephaly, Mesomelia, Wide mouth, Cervical ribs, Pri... |
OMIM:619297 |
| Proboscis Lateralis |
|
Orofacial cleft, Cyclopia, Agenesis of canine, Microphthalmia, Unilateral renal agenesis, Anophth... |
ORPHA:141099 |
| Thanatophoric Dysplasia, Type I |
|
Narrow chest, Temporal lobe dysplasia, Short greater sciatic notch, Flared metaphysis, Hydrocepha... |
OMIM:187600 |
| Curry-Jones Syndrome |
|
Microphthalmia, Chiari type I malformation, Triphalangeal hallux, Lipomyelomeningocele, Broad thu... |
OMIM:601707 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis, Cleft palate, Cleft lip, Micropenis, Clinodactyly |
OMIM:614838 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Ecchymosis, Epistaxis, Subconjunctival hemorrhage, Bruisi... |
ORPHA:464329 |
| Epidermal Nevus Syndrome |
|
Osteopenia, Polycystic kidney dysplasia, Weakness of long finger extensor muscles |
ORPHA:35125 |
| Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormality of the wrist, A... |
ORPHA:3138 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... |
ORPHA:99827 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Small placenta, Ectrodactyly, Microphal... |
ORPHA:397590 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent... |
ORPHA:251028 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Pectus excavatum, Cleft upper lip, Cleft palate, Finger joint hypermob... |
OMIM:244200 |
| Cockayne Syndrome Type 1 |
|
Hypoplasia of the primary teeth, Foot joint contracture, Anophthalmia, Abnormality of the dentiti... |
ORPHA:90321 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... |
OMIM:608180 |
| Charge Syndrome |
|
Microphthalmia, Tracheoesophageal fistula, Absent tibia, Microcephaly, Abnormal palmar dermatogly... |
OMIM:214800 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o... |
ORPHA:93267 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Coloboma, Short long... |
ORPHA:85167 |
| Momo Syndrome |
|
Abnormal bone ossification, Thick lower lip vermilion, Bilateral microphthalmos, Delayed eruption... |
ORPHA:2563 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu... |
OMIM:214150 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Long philtrum, Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Pectus cari... |
ORPHA:77258 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Adducted thumb, Bilateral microphthalmos, Flexion contracture of toe, Flared ... |
OMIM:610758 |
| Microphthalmia, Isolated 5 |
|
Cystoid macular edema, Microphthalmia |
OMIM:611040 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Thin vermilion border, Clinodactyly of the 5th finger, Bilateral cleft palate, High palate, Bilat... |
OMIM:618829 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Clinodactyly of the 5th finger, Cavum septum pellucidum, Abnormal renal morphology, Single transv... |
ORPHA:329224 |
| Radio-Renal Syndrome |
|
Hypoplasia of the radius, High, narrow palate, Renal hypoplasia/aplasia, Abnormality of the elbow... |
ORPHA:3015 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Pectus excavatum, Broad thumb, Microcephaly, Long philtru... |
ORPHA:508498 |
| Coach Syndrome 2 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619111 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Osteopenia, Nephronophthisis, Hypoplasia of the femoral head, Stage 5 chronic kidney... |
OMIM:616629 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... |
OMIM:603546 |
| Cat-Eye Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Short sternum, Bi... |
OMIM:258850 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Spina bifida occulta, Meningocele, Finger syndactyly, Short thorax, Abnormal rib mor... |
ORPHA:2311 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ... |
OMIM:147891 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pierre-Robin ... |
OMIM:602196 |
| Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly |
ORPHA:2917 |
| Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Spina... |
ORPHA:949 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral... |
OMIM:215150 |
| Smith-Mccort Dysplasia 1 |
|
Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic acetabulae, Limitation of join... |
OMIM:607326 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Hypoplasia of the corpus callosum, Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talip... |
OMIM:119800 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Proximal placement of thumb, Esophageal atresia, Hydrocephalus, Tracheoesophagea... |
OMIM:314390 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Genu valgum, Osteoporosis, Cleft palate, Micropenis |
OMIM:614880 |
| Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Renal hypoplasia, Hydronephrosis, Neonatal... |
OMIM:601186 |
| Stevenson-Carey Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Recurrent urinary tract infections, Coloboma, ... |
OMIM:611961 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Non-midline cleft of the up... |
ORPHA:1770 |
| Oculomaxillofacial Dysostosis |
|
Tessier cleft, Abnormality of the dentition, Abnormality of the humerus, Aplasia/Hypoplasia affec... |
ORPHA:1794 |
| Orofaciodigital Syndrome Xix |
|
Narrow palate, Cleft soft palate, Midline notching of lower lip, Postaxial hand polydactyly, High... |
OMIM:620107 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Renal hypoplasia/aplasia, Mesoaxial polydactyly, Cerebellar vermis hypoplas... |
ORPHA:2754 |
| Kniest Dysplasia |
|
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Tracheomalacia... |
OMIM:156550 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Rocker bottom foot, Optic nerve hypoplasia, Microcephaly, Craniosynostosis, Megarectum, Coxa valg... |
OMIM:301056 |
| Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Foot polydac... |
ORPHA:2318 |
| Seckel Syndrome 2 |
|
Cerebellar hypoplasia, Microphthalmia, Clinodactyly of the 5th finger, Cerebellar calcifications |
OMIM:606744 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Proximal renal tubular acidosis |
OMIM:615824 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage |
OMIM:611773 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| Osteoglophonic Dysplasia |
|
Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Long philtru... |
OMIM:166250 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Microcephaly, Hypospadias, Hypoplastic ischia |
OMIM:616910 |
| Acromesomelic Dysplasia 4 |
|
Sandal gap, Short metacarpal, Mesomelia, Umbilical hernia, Metaphyseal irregularity, Prominent de... |
OMIM:619636 |
| Van Den Ende-Gupta Syndrome |
|
Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower lip vermilion,... |
OMIM:600920 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Microcepha... |
OMIM:170390 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Long philtrum, Hypospadias, Multicystic kidney dysplasia, Triangular mouth, Hydrocephalus, Dandy-... |
OMIM:257300 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Coloboma, Unilateral microphthalmos, Anal atresia, Microcephaly, Horses... |
OMIM:619318 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Proximal placement of thumb, Microcephaly, Malrotation of colon, Hypospadias, Elb... |
OMIM:113620 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Microc... |
ORPHA:85201 |
| Joubert Syndrome 23 |
|
Polydactyly, Coloboma, Dysplastic corpus callosum |
OMIM:616490 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic nerve hypoplasia, Optic disc hypoplasia |
OMIM:182230 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Purpura, Bradycardia, Hypotension, Ecchymosis, Subconjunctival hemorrhage, Excessive... |
ORPHA:319213 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... |
ORPHA:340 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... |
ORPHA:3429 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A, Encephalocele |
ORPHA:1003 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Pectus carinatum, Everted lower lip vermilion, Microcephaly, Contracture of the p... |
ORPHA:464738 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... |
OMIM:268305 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Limitation of joint mobility, ... |
OMIM:151200 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polydactyly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Deep palmar creas... |
OMIM:247200 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Hypospadias, Abnormal finger morphology, Hip dysplasia, Wrist flexion contra... |
ORPHA:436003 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Microcephaly, Wide mouth, Umbilical hernia, 2-3 toe cutaneous syndactyly, Short philtrum, Cerebel... |
OMIM:618454 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Flexion contracture of toe, Finger joint contrac... |
ORPHA:48431 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Thin corpus callosum, Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Cerebellar ve... |
OMIM:600092 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Hypoplasia of the corpus callosum, Aganglionic megacolon, Hypospadias, Finger syndactyly, Microce... |
ORPHA:66629 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Microcephaly, Postaxial foot polydactyly |
OMIM:617119 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Pde4D Haploinsufficiency Syndrome |
|
Long philtrum, Short metatarsal, Hypospadias, Short philtrum, Upper limb undergrowth, Abnormal de... |
ORPHA:439822 |
| Frontorhiny |
|
Microphthalmia, Iris coloboma, Encephalocele, Camptodactyly of finger, Basal encephalocele, Cleft... |
ORPHA:391474 |
| Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Recurrent urinary tract infections, Single transverse palmar crease... |
OMIM:618161 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Renal cyst, Metaphyseal dysplasia, Thick vermilion border, Metaphyseal chondrod... |
OMIM:250410 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Abnormal r... |
OMIM:118100 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Cl... |
ORPHA:2237 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Calcification ... |
OMIM:271665 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
| Otodental Dysplasia |
|
Agenesis of premolar, Delayed eruption of teeth, Coloboma, Enamel hypoplasia, Long philtrum, Toot... |
OMIM:166750 |
| Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Ascites, Brachydac... |
OMIM:602361 |
| Limb-Mammary Syndrome |
|
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... |
OMIM:603543 |
| Joubert Syndrome With Renal Defect |
|
Orofacial cleft, Aganglionic megacolon, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasi... |
ORPHA:220497 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Unilateral renal dysplasia, Apl... |
OMIM:184705 |
| Kniest Dysplasia |
|
Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Dumbbell-shaped long bone, ... |
ORPHA:485 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,... |
OMIM:164745 |
| Kyphomelic Dysplasia |
|
Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, T... |
OMIM:211350 |
| Nager Syndrome |
|
Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Unilateral renal agene... |
ORPHA:245 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Hypospadias, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis... |
OMIM:619334 |
| Ivic Syndrome |
|
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... |
OMIM:147750 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, 11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Dental crowding, Shor... |
OMIM:619184 |
| Eales Disease |
|
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... |
ORPHA:40923 |
| Xylt1-Cdg |
|
Long philtrum, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Microcephaly, Cl... |
ORPHA:370930 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Hydrocephalus, Dandy-Walker malformation, Pleural effusion, Camptodactyly, K... |
OMIM:617822 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Narrow ... |
ORPHA:140 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Hypoplasia of the corpus callosum, Cerebral dysmyelination, Hammertoe, Polymicrogyria... |
OMIM:261515 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Hypospadias, Short philtrum,... |
OMIM:616449 |
| Ectrodactyly-Polydactyly |
|
Split foot, Split hand, Postaxial hand polydactyly |
OMIM:225290 |
| Orofaciodigital Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... |
ORPHA:2751 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Abnormal rib morphology, Renal agenesis, ... |
OMIM:601076 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contra... |
OMIM:618914 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly |
OMIM:619694 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Short philtrum, Abnormally large globe, Hydrocephalus, Abnormal renal morp... |
OMIM:239300 |
| 2P15P16.1 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Sandal gap, Optic nerve hypoplasia, Enlarged thorax, ... |
ORPHA:261349 |
| Antley-Bixler Syndrome |
|
Narrow chest, Abnormal renal morphology, Femoral bowing, Narrow mouth, Abnormal rib morphology, J... |
ORPHA:83 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Radial dysplasia, Chiari type I malformation, Hydrocephalus, Absent thumb |
OMIM:617244 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavatum, Ureteral ste... |
OMIM:309350 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short metacarpal, Renal cyst, Cerebral cortical atrophy, Metaphyseal chondrodysplasia, Brachydact... |
ORPHA:166035 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:250220 |
| Papillorenal Syndrome |
|
Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi... |
OMIM:120330 |
| 3Q29 Microduplication Syndrome |
|
Microphthalmia, Aniridia, Craniosynostosis, Sandal gap, Ectopic anus, High palate, Abnormality of... |
ORPHA:251038 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Microcephaly, Single transv... |
OMIM:614701 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Progressive clavicular acroosteolysis, Death in early adulthood, Short clavicles, Dental crowding... |
OMIM:608612 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Orofacial cleft, Microphthalmia, Coloboma, Wide mouth, Agenesis of corpus... |
OMIM:614583 |
| Acromesomelic Dysplasia 1 |
|
Limited elbow extension, Hypoplasia of the radius, Broad finger, Thoracolumbar kyphosis, Short me... |
OMIM:602875 |
| Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Foot polydac... |
ORPHA:220493 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
| Hajdu-Cheney Syndrome |
|
Partial absence of toe, Pectus carinatum, Decreased skull ossification, Intestinal malrotation, M... |
ORPHA:955 |
| Smith-Lemli-Opitz Syndrome |
|
Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasia of penis, Tooth agenesis, Micro... |
ORPHA:818 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Short ribs, Microcephaly, Aplasia of the epiglottis, Cerebellar vermis h... |
OMIM:615948 |
| Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
| Bartsocas-Papas Syndrome |
|
Renal hypoplasia/aplasia, Finger syndactyly, Narrow mouth, Synostosis of joints, Microcephaly, Ap... |
ORPHA:1234 |
| Craniofacial Microsomia 1 |
|
Cervical ribs, Occipital encephalocele, Microphthalmia, Genu valgum, Transverse facial cleft, Ect... |
OMIM:164210 |
| Distal Duplication 17Q |
|
Genu valgum, Rhizomelia, Short philtrum, Pectus carinatum, Vesicoureteral reflux, High palate, Mi... |
ORPHA:3379 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Short ribs, Urethrovaginal fistula, Long philtrum, Short thorax, Dandy-Walke... |
ORPHA:93271 |
| Cree Mental Retardation Syndrome |
|
Rocker bottom foot, Hypospadias, Cleft soft palate, Coloboma, Pectus excavatum, Cutaneous finger ... |
OMIM:606851 |
| Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di... |
OMIM:610688 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Orofacial cleft, Multicystic kidney dysplasia, Renal insufficiency, Hydr... |
ORPHA:1454 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:251270 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Bifid uvula, Symphalangism affecting the phalanges of the hand, Wide ... |
ORPHA:2658 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Death in infancy, Microce... |
OMIM:224690 |
| Carey-Fineman-Ziter Syndrome |
|
Long philtrum, Thin vermilion border, Aplasia of the pectoralis major muscle, Glandular hypospadi... |
ORPHA:1358 |
| Aprosencephaly Syndrome |
|
Anencephaly, Aprosencephaly, Finger aplasia |
OMIM:207770 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Everted lower lip vermilion, Microcephaly, Advanced eruption of teeth, Hypos... |
ORPHA:261494 |
| Adams-Oliver Syndrome |
|
Microphthalmia, Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent toe, Abnorma... |
ORPHA:974 |
| Monosomy 9Q22.3 |
|
Polydactyly, Long philtrum, Orofacial cleft, Microphthalmia, Palmar pits, Delayed eruption of tee... |
ORPHA:77301 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Hypospadias, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced... |
OMIM:614613 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndact... |
OMIM:217085 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carinatum, Microdontia, Generaliz... |
OMIM:245600 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Deviation of the thumb, Short hallux, Finger syndactyly, Hydrocephalus, Trac... |
ORPHA:93259 |
| Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Encephalocele, Agenesis of cerebellar vermis, Intrauterine growth retardation, Ol... |
ORPHA:228390 |
| Congenital Myopathy 17 |
|
Overlapping fingers, Dental malocclusion, Narrow chest, High palate, Pectus excavatum, Renal hypo... |
OMIM:618975 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Unilateral renal agenesis, Cone-shaped epiphyses of the phalanges of the hand, ... |
OMIM:101800 |
| Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Renal hypoplasia, Optic di... |
ORPHA:1475 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Microcephaly, Tented upper lip vermilion, Brachydactyly, Smooth p... |
ORPHA:313781 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hypophosphatemic rickets, Abnormality of dental color, Recurrent fractures, Abnormal ... |
OMIM:163200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the b... |
OMIM:615249 |
| 3Mc Syndrome 3 |
|
Tessier cleft, Preaxial polydactyly, Penoscrotal hypospadias, Cleft upper lip, Clinodactyly, Clef... |
OMIM:248340 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... |
OMIM:606895 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Tapered finger, Sandal gap |
ORPHA:1438 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, N... |
OMIM:609638 |
| Kabuki Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Microdontia, Microcephaly, Joint hypermobility, Sh... |
ORPHA:2322 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Death in infancy, Intestinal... |
OMIM:270400 |
| C Syndrome |
|
Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Dislocated radial head, Pec... |
ORPHA:1308 |
| Lathosterolosis |
|
Hypoplasia of penis, Meningocele, Cerebral calcification, Gingival overgrowth, Postaxial hand pol... |
ORPHA:46059 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Tapered finger, Scapular winging, Renal cyst, Carious teeth, Clinodactyly, Dental malocclusion, D... |
OMIM:615560 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Death in in... |
OMIM:601559 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Abnormal metaphysis morphology, Osteopetrosis, High, narrow palate, Spina bifida occulta, Delayed... |
ORPHA:2780 |
| Schinzel-Giedion Syndrome |
|
Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Umbilical hernia, Short distal pha... |
ORPHA:798 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... |
ORPHA:2788 |
| Frank-Ter Haar Syndrome |
|
Broad alveolar ridges, Broad clavicles, Short long bone, Pectus excavatum, Wide mouth, Camptodact... |
OMIM:249420 |
| Oliver Syndrome |
|
Clinodactyly of the 5th finger, Short philtrum, Prominent fingertip pads, Postaxial hand polydact... |
ORPHA:2920 |
| Robinow Syndrome |
|
Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Mesomelia, Bifid distal phalanx... |
ORPHA:97360 |
| Idiopathic Aplastic Anemia |
|
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage |
ORPHA:88 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Dental crowding, Microdontia, Syndactyly, Multiple renal cysts, Joint hyperm... |
ORPHA:110 |
| Senior-Loken Syndrome 8 |
|
Polydactyly, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulo... |
OMIM:616307 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Gout, Nephropathy, Chronic kidney disease |
OMIM:617056 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Limitation of knee ... |
OMIM:183900 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Long philtrum, High, narrow palate, Global brain atrophy, Congenital megaureter, Slen... |
ORPHA:369837 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, C... |
OMIM:616975 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Polymicrogyria, Multiple renal cysts, Renal cyst, Lissencephaly |
OMIM:614883 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Postaxial hand polydactyly, Ab... |
ORPHA:2916 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Pectus excavatum, Death in infancy, Broad thumb, Wide ... |
ORPHA:373 |
| Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Abnormal sternum morphology, Pectus carinatum, Absent distal phalanges, Pectus exc... |
OMIM:610168 |
| Bor Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... |
ORPHA:107 |
| Mesomelia-Synostoses Syndrome |
|
Short umbilical cord, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal... |
OMIM:600383 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand, Micropenis |
OMIM:245800 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Rocker bottom foot, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hyperextensibi... |
ORPHA:521426 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis in the skin, Vasculitis, Hematochezia, Subconjunctival hemorrhage |
OMIM:617718 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Renal cyst, Epiphyseal stippling |
OMIM:614862 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... |
ORPHA:370022 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Optic disc hypoplasia, Cerebellar vermis hypoplasia, Rhombencephalosynap... |
OMIM:619306 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology |
ORPHA:206448 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, High, ... |
ORPHA:2879 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Monosomy 18P |
|
Microphthalmia, Lymphedema, Holoprosencephaly, Brachydactyly |
ORPHA:1598 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Abnormal sternum morphology, Pectus carinatum, Postaxial hand polydactyly, High pa... |
OMIM:609192 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal thumb morphology, Enlarged kidney, Spina bifida occulta, Tibial bowing, Abnormal femoral... |
ORPHA:500095 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Cystic renal dysplasia, Hydroureter, Postaxial hand polydactyly, Hydronephrosis, Pos... |
OMIM:615989 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Jacobsen Syndrome |
|
Death in infancy, Intestinal malrotation, Abnormality of the anus, Long philtrum, Hip dislocation... |
ORPHA:2308 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vert... |
ORPHA:800 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia, Rocker bottom foot |
OMIM:610756 |
| Acrocardiofacial Syndrome |
|
Abnormal metacarpal morphology, Hypospadias, Hypoplasia of penis, Finger syndactyly, Split hand, ... |
ORPHA:2008 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... |
OMIM:619902 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar cyst, Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Cerebellar dysplasia,... |
OMIM:613150 |
| Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:608629 |
| Cranioectodermal Dysplasia 2 |
|
Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatum, Mesomelia, Syndactyly, Br... |
OMIM:613610 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Hand polydactyly, Cleft palate, Rib fusion, Craniosynostosis, Multicystic kidne... |
ORPHA:261197 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... |
OMIM:300106 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand |
OMIM:619339 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Hydroureter, Narrow chest, Vesicoureteral reflux, Joint stiffness, Camptod... |
ORPHA:2604 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Micr... |
ORPHA:508533 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... |
OMIM:620076 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Increased susceptibility to fractures, Osteopenia, Talipes equinovarus, Flared metaphysis, Dyspla... |
OMIM:615349 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Tracheoesophageal fistula, ... |
OMIM:192350 |
| Thauvin-Robinet-Faivre Syndrome |
|
Coloboma, Renal cyst, Retinal coloboma, Nephroblastoma, Long hallux, Large hands, Bifid ureter, T... |
OMIM:617107 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap |
OMIM:300887 |
| Sandestig-Stefanova Syndrome |
|
Bilateral single transverse palmar creases, Rocker bottom foot, Microphthalmia, Camptodactyly, In... |
OMIM:618804 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Pectus excavatum, Microcephaly, Arachnodactyly, Primary microcephaly, Polydactyly, Hypospadias, P... |
ORPHA:464306 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Zellweger Syndrome |
|
Hypospadias, Epiphyseal stippling, Polymicrogyria, High palate, Death in infancy, Pyloric stenosi... |
ORPHA:912 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... |
OMIM:271640 |
| Tuberous Sclerosis Complex |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Cortical dysplasia, Renal cell carcinoma,... |
ORPHA:805 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization |
ORPHA:891 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Microphthalmia, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Joint st... |
ORPHA:534 |
| Oculodentodigital Dysplasia |
|
Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Microcep... |
OMIM:164200 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormal metaphy... |
ORPHA:290 |
| Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of the phalanges... |
ORPHA:3474 |
| Marshall Syndrome |
|
Small proximal tibial epiphyses, Calcification of falx cerebri, Bifid uvula, Irregular femoral ep... |
OMIM:154780 |
| Wiedemann-Steiner Syndrome |
|
Long philtrum, Clinodactyly of the 5th finger, Hypodontia, 2-3 toe syndactyly, Exaggerated cupid'... |
OMIM:605130 |
| Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Global brain atrophy, Microphthalmia, Frontal cortical atrophy, Remnants of ... |
ORPHA:2714 |
| Marshall-Smith Syndrome |
|
Short mandibular rami, Optic nerve hypoplasia, Prominent fingertip pads, Glossoptosis, Pectus exc... |
OMIM:602535 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Upper limb undergrowth, Recurrent urinary tract infections, High palat... |
OMIM:614527 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Enlarged kidney, Talipes equinovarus, Femoral bowing, Hepatic cysts, Cystic renal dys... |
OMIM:615415 |
| Fibrochondrogenesis |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... |
ORPHA:2021 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ... |
ORPHA:989 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Absent phalangeal crease, Cleft palate, Flexion cont... |
OMIM:618469 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, P... |
OMIM:619269 |
| Cloacal Exstrophy |
|
Abnormal fibula morphology, Renal hypoplasia/aplasia, Abnormal tibia morphology, Ectopic kidney, ... |
ORPHA:93929 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Proteinuria, Micropenis, P... |
OMIM:619471 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin... |
OMIM:619135 |
| Townes-Brocks Syndrome 1 |
|
Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Microcephaly, Urethral valve... |
OMIM:107480 |
| Constricting Bands, Congenital |
|
Tessier cleft, Encephalocele, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyly, Bladde... |
OMIM:217100 |
| Marburg Hemorrhagic Fever |
|
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Hypotensio... |
ORPHA:99826 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... |
OMIM:119600 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Microcephaly, Syndactyly, Joint hypermobility, Broad ribs, Hypospadias, Elbow fl... |
OMIM:151050 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
| Momo Syndrome |
|
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Retinal coloboma, Short sternu... |
OMIM:157980 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Rocker bottom foot, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, D... |
ORPHA:488642 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Narrow chest, High palate, Postaxial hand polydactyly, Death in infan... |
OMIM:235255 |
| Acrofacial Dysostosis 1, Nager Type |
|
Radial deviation of finger, Microcephaly, Absent thumb, Wide mouth, Absent radius, Overlapping to... |
OMIM:154400 |
| Cerebellar-Facial-Dental Syndrome |
|
Inferior cerebellar vermis hypoplasia, Slender long bone, Single transverse palmar crease, Abnorm... |
ORPHA:444072 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th toe, Secondary microcephaly, Clinodact... |
OMIM:620113 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Increased density of long bones... |
OMIM:269150 |
| Mend Syndrome |
|
Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, High palate, Long fing... |
OMIM:300960 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Absent thumb, Short thumb, Chia... |
OMIM:609053 |
| Distal Deletion 15Q |
|
Short finger, 2-3 toe cutaneous syndactyly, Genu valgum, Generalized joint hypermobility, Hypospa... |
ORPHA:1596 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Triphalangeal thumb, Vesicoureteral reflux, Esophagitis, Osteoporosis, Sprengel anoma... |
OMIM:612562 |
| Craniofrontonasal Syndrome |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hypospadias, Abnormal rib cage... |
OMIM:304110 |
| Cat Eye Syndrome |
|
Rectal fistula, Anal stenosis, Microphthalmia, Meckel diverticulum, Vesicoureteral reflux, Anal a... |
OMIM:115470 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
| Adnp Syndrome |
|
Urinary incontinence, Focal white matter lesions, Sandal gap, Abnormal finger morphology, Broad t... |
ORPHA:404448 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the kidney, Conical tooth, Midgu... |
OMIM:263750 |
| 16P13.11 Microdeletion Syndrome |
|
Cyclopia, Exaggerated cupid's bow, Pectus excavatum, Microcephaly, Camptodactyly of finger, Cleft... |
ORPHA:261236 |
| Myhre Syndrome |
|
Abnormal metaphysis morphology, Epispadias, Gingival cleft, Thin vermilion border, Hypospadias, C... |
ORPHA:2588 |
| Pseudoxanthoma Elasticum |
|
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... |
OMIM:264800 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon... |
OMIM:143095 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Polyhydramnios, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Camptoda... |
OMIM:616920 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:570 |
| Orofaciodigital Syndrome Type 4 |
|
Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Microcephaly, Bifid uvula, Genu varu... |
ORPHA:2753 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Type II lissencephaly, Microceph... |
OMIM:236670 |
| Alg3-Cdg |
|
Neural tube defect, Dandy-Walker malformation, Hypoplasia of the pons, Metaphyseal chondrodysplas... |
ORPHA:79321 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Optic nerve hypoplasia, ... |
OMIM:614643 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Esophageal varix |
ORPHA:53035 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
| Neurooculocardiogenitourinary Syndrome |
|
Abnormal cerebellum morphology, Microphthalmia, Abnormality of the palmar creases |
OMIM:618652 |
| Polydactyly, Postaxial, Type A6 |
|
Abnormal dental morphology, Broad phalanges of the 5th finger, Postaxial foot polydactyly, Postax... |
OMIM:615226 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Everted lower lip vermilion, Renal hypoplasia, Long philtrum, Cerebel... |
ORPHA:75389 |
| Cerebellofaciodental Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ... |
OMIM:616202 |
| Temtamy Syndrome |
|
Microphthalmia, Short 2nd toe, Brachydactyly, Talipes equinovarus, Hip dislocation |
OMIM:218340 |
| Opsismodysplasia |
|
Long philtrum, Rhizomelia, Bell-shaped thorax, Renal phosphate wasting, Narrow chest, Metaphyseal... |
OMIM:258480 |
| Japanese Encephalitis |
|
Pulmonary edema, Distal upper limb muscle weakness, Elbow flexion contracture, Abnormal midbrain ... |
ORPHA:79139 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Abnormality of the kidney, Hydrocephalus, Gingival overgrowth, Protruding tongue, Hy... |
ORPHA:93400 |
| Orofaciodigital Syndrome X |
|
Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b... |
OMIM:165590 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:617563 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Everted lower lip vermilion, Wide mouth, Open mouth, Macroglossia, Clinodactyly, Talipe... |
OMIM:616789 |
| Trisomy 10P |
|
Abnormality of the kidney, Orofacial cleft, Thin vermilion border, Ulnar deviated club hands, Abn... |
ORPHA:171929 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Dental malocclusion, Gingival overgrowth, Vesicoureteral reflux, Camptodactyly,... |
OMIM:616894 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Palmoplantar cutis gyrata, Dislocated radial head, Pectus carinatum, Arachnodactyly, Bifid uvula,... |
OMIM:130070 |
| Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Intestinal malrotation, Short sternum, Non-acidotic proximal tubulopathy,... |
OMIM:222448 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Broad thumb, Foot polydactyly, Han... |
ORPHA:250989 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Microcephaly, Joint hypermobility, Craniosynostosis, Overlapping toe, Postaxial... |
OMIM:213980 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph... |
OMIM:608940 |
| Tetrasomy 9P |
|
Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Dental crowding, ... |
ORPHA:3310 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:618805 |
| Fetal Akinesia Deformation Sequence 1 |
|
Rocker bottom foot, Wrist flexion contracture, Thoracic hypoplasia, Long philtrum, Small placenta... |
OMIM:208150 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Abnormality of the kidney |
OMIM:613464 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Absent radius, Aplasia/Hy... |
ORPHA:1352 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Protein-losing enteropathy, Polycystic kidney dysplasia, Re... |
ORPHA:731 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Broad distal phalanx... |
ORPHA:2636 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Umbilical hernia, Long ph... |
OMIM:265000 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Townes-Brocks Syndrome |
|
Microphthalmia, Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Urethral valve, Wid... |
ORPHA:857 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly, Posterior fossa cyst at the... |
OMIM:220220 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Anal atresia, Tracheoesophageal ... |
ORPHA:2973 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Ectopic kidney, Hypospadias, Horseshoe kidney, Madelung deformity, Enuresis nocturna, Vesicourete... |
OMIM:301111 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoplasia of the corpus callosum, Branchial anomaly, Abnormal bladder morphology, Ve... |
ORPHA:453499 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Narrow chest, Abnormally large globe, Abnormal renal morphology, High... |
ORPHA:1655 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Intestinal polyposis, Stomach cancer, Dandy-Walke... |
ORPHA:1052 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Hypoplasia of the corpus callosum, Abnormal sternum morphology, Short ribs, Postaxial hand polyda... |
ORPHA:2519 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar cyst, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morph... |
ORPHA:370997 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... |
ORPHA:83461 |
| Dihydropyrimidinase Deficiency |
|
Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil level, Elevated... |
OMIM:222748 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent th... |
OMIM:263650 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypoplasia of the corpus callosum, Ankle flexion contracture, Hypospadias, Unilateral renal agene... |
ORPHA:464311 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Microphthalmia, Clinodactyly of the 5th finger, Cavum septum pellucidum, Increased... |
OMIM:617306 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Death in childhood, Proximal tubulopathy, Renal cyst, Vi... |
OMIM:602579 |
| Retinoblastoma |
|
Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage |
ORPHA:790 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Dental crowding, ... |
OMIM:180849 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Microphthalmia, Brachydactyly |
OMIM:614526 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology, Lymphedema, Aplasia/Hypoplasia of the cerebellum |
ORPHA:79279 |
| Lathosterolosis |
|
2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Osteoporo... |
OMIM:607330 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Turnpenny-Fry Syndrome |
|
Hypoplasia of the primary teeth, Dental crowding, Pectus carinatum, Thoracic kyphoscoliosis, Pect... |
OMIM:618371 |
| Syndromic Diarrhea |
|
Gastritis, Polycystic kidney dysplasia, Colitis, Renal hypoplasia, Villous atrophy |
ORPHA:84064 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Neural tube defect, Clinodactyly |
OMIM:119580 |
| Galloway-Mowat Syndrome 1 |
|
Microphthalmia, Dandy-Walker malformation, Cerebellar atrophy, Camptodactyly, Slender finger, Hyp... |
OMIM:251300 |
| Scarf Syndrome |
|
Long philtrum, Pectus carinatum, Short sternum, Enamel hypoplasia, Umbilical hernia, Joint hyperm... |
ORPHA:3134 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Catel-Manzke Syndrome |
|
Pectus carinatum, Glossoptosis, Short metacarpal, Pectus excavatum, Ulnar deviation of the 2nd fi... |
OMIM:616145 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Gout, Stage ... |
OMIM:603860 |
| Renpenning Syndrome 1 |
|
Cerebral atrophy, Microphthalmia, Death in childhood, Clinodactyly of the 5th finger, Hypospadias... |
OMIM:309500 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Steatorrhea, Death in childhood, Cerebellar vermis hypoplasia, Proximal tubulopathy, ... |
OMIM:212065 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Calcification of falx cerebri, Syndactyly, Tubulonodular pericallosal lip... |
OMIM:603671 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontotemporal cerebral atrophy, Everted lower lip vermilion, Broad thumb, Syndactyly, Dark urine... |
OMIM:619534 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Single transverse palmar crease, Microphthalmia, Oligohydramnios |
OMIM:619053 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... |
ORPHA:2334 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Long philtrum, Abnormal palate morphology, Postaxial hand polydactyly |
ORPHA:1389 |
| Trisomy 8P |
|
Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Microcephaly, Nephrocalcinosis, Bifi... |
ORPHA:264450 |
| Monosomy 9P |
|
Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Hypospad... |
ORPHA:261112 |
| 3Mc Syndrome 1 |
|
Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Spina bifida occul... |
OMIM:257920 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Bardet-Biedl Syndrome 2 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:615981 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Sandal gap, Holoprosencephaly, 3-4 finger cutaneous syndactyly, Cerebellar hypopl... |
OMIM:612530 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Cerebellar atrophy, Camptodactyly, Arachnodactyly, Intrauterine growth retardatio... |
OMIM:617729 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Edema |
ORPHA:2526 |
| Orofaciodigital Syndrome Type 14 |
|
Epispadias, Supernumerary tooth, Hypoplasia of the corpus callosum, Deviation of the hallux, Apla... |
ORPHA:434179 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Epispadias, Microphthalmia, Hypospadias, Anophthalmia, Hydrocephalus, Abnormal dental enamel morp... |
ORPHA:2556 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Craniosynostosis, Finger syndactyly, Laryngotracheomalacia, Abnor... |
ORPHA:503 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cerebellar cyst, Microphthalmia, Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypo... |
OMIM:253800 |
| Garg-Mishra Progeroid Syndrome |
|
Microphthalmia, Slender long bone, Slender metacarpals, Broad palm, Coxa valga |
OMIM:620601 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Abnormal brainstem morpho... |
ORPHA:163961 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, ... |
OMIM:615873 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, Tooth agene... |
ORPHA:221016 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Encephalocele |
ORPHA:1791 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Um... |
ORPHA:672 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones |
ORPHA:3191 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pericarditis, Subconjunctival hemorrhage, Arrhythmia, First degr... |
ORPHA:509 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Hypoplasia of the corpus callosum, Renal cyst, Microcephaly, Wide mouth, Smooth philtrum, Agenesi... |
OMIM:617260 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Microphthalmia, Proximal placement of thumb |
OMIM:617883 |
| Aicardi Syndrome |
|
Microphthalmia, Bifid ribs, Intestinal polyposis, Short philtrum, Polymicrogyria, Partial agenesi... |
ORPHA:50 |
| Meier-Gorlin Syndrome 7 |
|
Dislocated radial head, Progressive microcephaly, Clubbing, Joint hypermobility, Craniosynostosis... |
OMIM:617063 |
| Duplication Of The Pituitary Gland |
|
Polyhydramnios, Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Urinary incontinence, Dental crowding, Pectus carinatum, Pectus excavatum, Arachn... |
ORPHA:261537 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Ureterocele, Abnormality of the bladder, Osteoporosis, Abnorma... |
ORPHA:79404 |
| Cornelia De Lange Syndrome |
|
Bilateral single transverse palmar creases, Proximal placement of thumb, Hypoplasia of penis, Oli... |
ORPHA:199 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Ectopic kidney, Sandal gap, Dislocated radial head, Prominent fingertip pads, Mic... |
OMIM:135900 |
| Craniofacioskeletal Syndrome |
|
Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Barrel-shaped chest, Narrow iliac wi... |
OMIM:300712 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia, Cerebellar atrophy |
OMIM:614833 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger |
OMIM:167730 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft upper lip, Cleft palate |
OMIM:179400 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Microphthalmia, Intrauterine growth retardation, Hip dysplasia |
ORPHA:494344 |
| Larsen Syndrome |
|
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Sp... |
OMIM:150250 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Acetabular dysplasia, Oligodontia, Short metacarpal, Pectus excavatum, Broad thum... |
OMIM:201180 |
| Caroli Syndrome |
|
Abnormality of the kidney, Esophageal varix, Polycystic kidney dysplasia |
ORPHA:480520 |
| Codas Syndrome |
|
Hypoplasia of the corpus callosum, Genu valgum, Proximal placement of thumb, Rectovaginal fistula... |
OMIM:600373 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Microphthalmia, Cerebellar cyst, Hydrocephalus, Cerebellar vermis hypoplasia, Buphthalmos |
OMIM:616538 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia |
OMIM:610256 |
| Marcus-Gunn Syndrome |
|
Cleft lip, Cleft palate, Nephrolithiasis, Coloboma |
ORPHA:91412 |
| Cohen Syndrome |
|
Microphthalmia, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodacty... |
ORPHA:193 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Single transverse palmar crease, Microphthalmia, Broad hallux |
OMIM:614105 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Everted lower lip ve... |
OMIM:601358 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... |
OMIM:192315 |
| Familial Multiple Lipomatosis |
|
Hypoplasia of the corpus callosum, Premature eruption of permanent teeth, Odontogenic keratocysts... |
ORPHA:199276 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Alagille Syndrome 2 |
|
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency |
OMIM:610205 |
| Wolf-Hirschhorn Syndrome |
|
Microcephaly, Craniofacial asymmetry, Malrotation of small bowel, Hip dislocation, Hypospadias, S... |
OMIM:194190 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly |
OMIM:618727 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Syndactyly, Umbilical hernia, C... |
ORPHA:369891 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Edema, Upper limb asymmetry, Microphthalmia, Umbilical hernia |
ORPHA:2505 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Peutz-Jeghers Syndrome |
|
Esophageal neoplasm, Intestinal obstruction, Rectal prolapse, Neoplasm of the rectum, Stomach can... |
ORPHA:2869 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Short humerus,... |
OMIM:218600 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hypoplasia of the small intestine, Postaxial hand polydactyly, Micromelia, Hypop... |
OMIM:200995 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
| Peters Plus Syndrome |
|
Ureteral duplication, Renal hypoplasia/aplasia, Microcephaly, Wide mouth, Umbilical hernia, Long ... |
ORPHA:709 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Frontal open bite, Hypodontia, Gingival hyperkeratosis, Gingival overgrowth, Gingival... |
OMIM:225410 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... |
ORPHA:3144 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... |
OMIM:614817 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Ear-Patella-Short Stature Syndrome |
|
Epispadias, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Craniosynostosis, S... |
ORPHA:2554 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
| Fanconi Anemia, Complementation Group F |
|
Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Absent thumb, Short thumb, 2-3 finger s... |
OMIM:603467 |
| Ulnar-Mammary Syndrome |
|
Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasia of the 3rd meta... |
OMIM:181450 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Slender long bone, Corneal stromal edema, Tibial bowing, Osteolytic defects of th... |
OMIM:601812 |
| Nance-Horan Syndrome |
|
Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Short... |
OMIM:302350 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Thin vermilion border, Hypoplasia of the corpus callosum, Cavum septum pellucidum, C... |
OMIM:619869 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Scarf Syndrome |
|
Lambdoidal craniosynostosis, Barrel-shaped chest, Pectus carinatum, Coronal craniosynostosis, Sho... |
OMIM:312830 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Death in infancy, Microcephaly, Overlapping toe, Renal insufficiency, Partial agenesi... |
OMIM:617478 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Cerebral atrophy, 3-Methylglutaconic aciduria, Renal insufficiency, Abnormal basal ganglia morpho... |
ORPHA:445038 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short toe |
OMIM:600430 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia, Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Intra... |
OMIM:613451 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon, Talipes ... |
OMIM:601374 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Steatorrhea, Renal cyst, Dark urine, Fat malabsorption |
ORPHA:79303 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Microphthalmia, Abnormal finger morphology, Aplasia of the 1st metacarpal, Sl... |
ORPHA:3472 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Unilateral renal agenesis, Esophageal atresia, Hydrocephalus, Tracheoesophageal f... |
OMIM:614083 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho... |
ORPHA:79500 |
| Holoprosencephaly 3 |
|
Cyclopia, Solitary median maxillary central incisor, Microcephaly, Bifid uvula, Hydronephrosis, H... |
OMIM:142945 |
| Meckel Syndrome, Type 7 |
|
Multiple glomerular cysts, Multicystic kidney dysplasia, Dandy-Walker malformation, Stage 5 chron... |
OMIM:267010 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal cerebellum morpho... |
ORPHA:68 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Microphthalmia |
OMIM:612379 |
| Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Hypospadias, Alobar holoprosencephaly, Ectrodactyly, Microcephaly, L... |
OMIM:615465 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Urinary incontinence, Focal white matter lesions, Dental crowding, Pectus carinat... |
ORPHA:2152 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation, Short palm, Short foot, Small hand |
OMIM:241410 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... |
OMIM:601356 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Broad long bones, Fifth fing... |
OMIM:257850 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Bowed humerus, Short long bone, Sho... |
OMIM:619479 |
| Degcags Syndrome |
|
Microphthalmia, Microcephaly, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Polydactyl... |
OMIM:619488 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, 3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Orofacial ... |
ORPHA:17 |
| Cutis Marmorata Telangiectatica Congenita |
|
Orofacial cleft, Reduced bone mineral density, Finger syndactyly, Abnormality of the upper limb, ... |
ORPHA:1556 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia, Cerebellar atrophy |
OMIM:301108 |
| Refsum Disease |
|
Abnormal epiphysis morphology, Microphthalmia, Hammertoe, Short metacarpal |
ORPHA:773 |
| Renal Hypoplasia, Bilateral |
|
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... |
ORPHA:97362 |
| Bohring-Opitz Syndrome |
|
Hypoplasia of the corpus callosum, Fixed elbow flexion, Metacarpophalangeal joint contracture, Da... |
ORPHA:97297 |
| Okamoto Syndrome |
|
Polydactyly, Hypoplasia of the corpus callosum, Urinary incontinence, Anal stenosis, Abnormally l... |
ORPHA:2729 |
| Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... |
OMIM:174000 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
2-4 toe cutaneous syndactyly, Pectus excavatum, Microcephaly, Abnormal toe morphology, Dilatation... |
ORPHA:268261 |
| Distal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Rickets, Reduced bone mineral density, Hypocitraturia, Decrease... |
ORPHA:18 |
| Distal Deletion 3P |
|
Thin vermilion border, Clinodactyly of the 5th finger, High palate, Postaxial hand polydactyly, M... |
ORPHA:1620 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage |
OMIM:177850 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Phakomatosis Pigmentokeratotica |
|
Hypophosphatemic rickets, Renal transitional cell carcinoma, Coloboma, Spina bifida, Hemiatrophy,... |
ORPHA:2874 |
| Holoprosencephaly 7 |
|
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Microcephaly, ... |
OMIM:610828 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C... |
ORPHA:480536 |
| 47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... |
ORPHA:8 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Advanced eruption of teeth, Long penis, Dental crowding, Gingival overgrowth, High p... |
ORPHA:769 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Microphthalmia, Urinary incontinence, Dental crowding, Pectus carinatum, Pectus excavatum, Arachn... |
ORPHA:261552 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormal intestine morphology, Joint stiffness, Microcephaly, Abnormality of... |
ORPHA:1606 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Tented upper lip vermilion, High palate, Deep philtrum |
ORPHA:314655 |
| Joubert Syndrome |
|
Orofacial cleft, Aganglionic megacolon, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasi... |
ORPHA:475 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrops fetalis, Hydrocephalus, Foot polydactyly, Short palm |
ORPHA:268249 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... |
OMIM:137920 |
| Rothmund-Thomson Syndrome Type 1 |
|
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Patellar hypoplasia, Meta... |
ORPHA:221008 |
| Baraitser-Winter Syndrome 1 |
|
Duplication of phalanx of hallux, Microphthalmia |
OMIM:243310 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Intraretinal hemorrhage |
ORPHA:411527 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Sh... |
OMIM:261540 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Epiphyseal stippling |
OMIM:601539 |
| Mend Syndrome |
|
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, Hand polydactyly, L... |
ORPHA:401973 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Joint contracture of the 5th finger, Single transverse palmar crease, 2-3 toe syn... |
OMIM:620098 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cel... |
ORPHA:98755 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal hip bone morphology, Hydrocephalus, Abnormal brainstem morphology, Arachnodactyly, Aplas... |
ORPHA:2720 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Intestina... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Intestina... |
ORPHA:353277 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Microphthalmia, Inferior cerebellar vermis hypoplasia |
OMIM:618571 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers |
ORPHA:335 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Broad finger, Azoospermia, Abnormal hand morphology, Short phalanx of finger, Long philtrum, Smal... |
OMIM:300845 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Osteopenia, Narrow chest, Slender long bone, Hypoplastic pelvis, Microcephaly, Wide ... |
OMIM:612731 |
| Isolated Posterior Meningocele |
|
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... |
ORPHA:268810 |
| Genitopatellar Syndrome |
|
Thin corpus callosum, Hypoplastic ischia, Microcephaly, Malrotation of small bowel, Short phalanx... |
OMIM:606170 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Dandy-Walker malformation, Long fingers, Microphthalmia, Cerebellar vermis atrophy |
OMIM:156610 |
| Neuromuscular Oculoauditory Syndrome |
|
Wrist flexion contracture, Multiple renal cysts, Agenesis of corpus callosum, Knee flexion contra... |
OMIM:618733 |
| Atelis Syndrome 2 |
|
Pulmonic stenosis, Vitreous hemorrhage, Supravalvar pulmonary stenosis |
OMIM:620185 |
| Williams Syndrome |
|
Hypoplasia of penis, Everted lower lip vermilion, Tracheoesophageal fistula, Microdontia, Joint s... |
ORPHA:904 |
| Encephalocraniocutaneous Lipomatosis |
|
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the iris, Cerebellar hypo... |
OMIM:613001 |
| Alveolar Echinococcosis |
|
Bone cyst, Abnormal bladder morphology, Abnormal sternum morphology, Renal cyst, Abnormal pelvis ... |
ORPHA:284 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Renal hypoplasia/aplasia, Encephalocele, Meningocele, Abnormal rib ... |
ORPHA:991 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Hydrocephalus, Congenital aphakia, Renal cyst, Cleft palate, Agenesis of corpus c... |
ORPHA:137675 |
| Warburg Micro Syndrome 2 |
|
Clinodactyly of the 5th toe, Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe |
OMIM:614225 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum, Bifid uvula, Broad philtrum, Abnormality of th... |
OMIM:211380 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, ... |
ORPHA:568 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Microphthalmia, Abnormal cerebellum morphology, Intrauterine growth... |
ORPHA:2510 |
| Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy... |
OMIM:149730 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of th... |
ORPHA:364577 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Monosomy 13Q14 |
|
Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyl... |
ORPHA:1587 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Microcephaly, Submucous cleft of sof... |
OMIM:301022 |
| Pallister-Killian Syndrome |
|
Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mouth, Umbilical hernia, L... |
OMIM:601803 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... |
ORPHA:758 |
| Refractory Anemia With Excess Blasts |
|
Palpitations, Abnormal bleeding, Retinal hemorrhage |
ORPHA:86839 |
| Proteus Syndrome |
|
Macrodactyly, Enlarged kidney, Asymmetry of the thorax, Abnormal finger morphology, Calvarial hyp... |
ORPHA:744 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asymmetry, Talipe... |
ORPHA:35173 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypoplasia of the corpus callosum, Aganglionic megacolon, Death in childhood, Hypospadias, Unilat... |
OMIM:308205 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Enlarged thorax, Pectus e... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Enlarged thorax, Pectus e... |
ORPHA:99228 |
| Monosomy X |
|
Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Enlarged thorax, Pectus e... |
ORPHA:99226 |
| Turner Syndrome |
|
Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Enlarged thorax, Pectus e... |
ORPHA:881 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Microcolon, Intestinal malrotation, Death in infancy, Umbilical hernia, Megacystis, ... |
ORPHA:2241 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia, Clinodactyly of the 5th finger |
ORPHA:2399 |
| Microphthalmia/Coloboma 12 |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Tessier cleft, Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Cleft... |
ORPHA:306542 |
| Familial Adenomatous Polyposis 4 |
|
Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Duodenal polyposis |
OMIM:617100 |
| Fetal Cytomegalovirus Syndrome |
|
Petechiae, Retinal hemorrhage |
ORPHA:294 |
| Fanconi Anemia |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ... |
ORPHA:84 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... |
ORPHA:3186 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia, Cerebellar atrophy |
OMIM:615663 |
| Tetraamelia Syndrome 1 |
|
Abnormal clavicle morphology, Microphthalmia, Hydrocephalus, Anal atresia, Hypoplastic pelvis, Re... |
OMIM:273395 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Abnormal bone ossification, Metaphyseal enchondromatosis, Abnormal globus pallidus morphology, Me... |
ORPHA:99646 |
| Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Gastric ulcer, Chronic kidney disease, Hip dysplasia |
OMIM:208060 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Legius Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Abnormal sternum morphology, Nephrolithiasis, Nephro... |
ORPHA:137605 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen... |
ORPHA:284160 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping toe, Clinoda... |
OMIM:300895 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia, Clinodactyly of the 5th finger |
OMIM:614222 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Arthritis, Renal cell carc... |
ORPHA:93111 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Death in childhood, Hypospadias, Clubbing, Split hand, Cleft upper lip, Cleft palate, Micropenis |
OMIM:600460 |
| Waldenström Macroglobulinemia |
|
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gingival bleeding, Re... |
ORPHA:33226 |
| Cystic Echinococcosis |
|
Bone cyst, Renal cyst, Ovarian cyst, Hepatic cysts, Membranous nephropathy |
ORPHA:400 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f... |
OMIM:153400 |
| Myhre Syndrome |
|
Short finger, Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, 2-3 toe syndact... |
OMIM:139210 |
| Trichothiodystrophy 3, Photosensitive |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616395 |
| Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia |
OMIM:619476 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly, Absent palmar crease |
OMIM:614230 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Osteopenia, Optic nerve hypoplasia, Abnormal digit morphology, Osteoporosis of verte... |
ORPHA:95494 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia, 4-5 finger syndactyly, Cerebellar atrophy, Hypo... |
ORPHA:468631 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Intrauterine growth retardation, Abnormal palmar dermatoglyphics, Microphthalmia |
ORPHA:2728 |
| Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Finger syndactyly, Abnormal hand morphology, Absent hand, D... |
ORPHA:464 |
| Tuberous Sclerosis 1 |
|
Gingival fibromatosis, Cerebral calcification, Renal cell carcinoma, Renal cyst, Hemimegalencepha... |
OMIM:191100 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1915 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad distal phalanx of finger, Dental crowding, Broad thumb, Intestinal malrotation, Joint hyper... |
ORPHA:353281 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Tented philtrum, Buphthalmos, Hypospadias, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, ... |
ORPHA:495875 |
| Norrie Disease |
|
Buphthalmos, Microphthalmia, Hypoplasia of the iris |
OMIM:310600 |
| Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Hydrocephalus, Aplasia of the 1st metacarpal, Complete duplication of thumb phala... |
OMIM:227646 |
| Jacobsen Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Holoprosencephaly, Brachydactyly, ... |
OMIM:147791 |
| Monosomy 13Q34 |
|
Postaxial hand polydactyly, Microcephaly, Fetal pyelectasis, Agenesis of corpus callosum, Postaxi... |
ORPHA:96168 |
| Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Broad thumb, Camptodactyly of finger,... |
ORPHA:1236 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio... |
OMIM:600740 |
| Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia |
OMIM:612109 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Neurogenic bladder, Dermal sinus tract,... |
OMIM:600145 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Complete duplication of thumb phalanx, Absent thumb, Short thumb, Absent radius |
OMIM:600901 |
| Hypomelia With Mullerian Duct Anomalies |
|
Split hand, Postaxial hand polydactyly |
OMIM:146160 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Osteoporosis, Nephroc... |
ORPHA:99880 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Absent radius, Complete duplication of thumb phalanx, Absent thumb, Short thumb, ... |
OMIM:227645 |
| Penile Agenesis |
|
Rectal fistula, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Tracheoesophag... |
ORPHA:49 |
| 17Q12 Microdeletion Syndrome |
|
Cerebral atrophy, Renal hypoplasia/aplasia, Renal insufficiency, Subcortical cerebral atrophy, Ur... |
ORPHA:261265 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5... |
OMIM:608670 |
| Tuberous Sclerosis 2 |
|
Gingival fibromatosis, Cerebral calcification, Renal cell carcinoma, Renal cyst, Hemimegalencepha... |
OMIM:613254 |
| Parathyroid Carcinoma |
|
Peptic ulcer, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Osteoporosis, Nephroc... |
ORPHA:143 |
| Fanconi Anemia, Complementation Group N |
|
Hypoplasia of the radius, Microphthalmia, Absent thumb, Short thumb |
OMIM:610832 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Tapered finger |
ORPHA:65286 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Hypospadias, Dental malocclusion, Coloboma, High palate, Hypoplasia of teeth, Cle... |
OMIM:603457 |
| Choanal Atresia |
|
Polydactyly, Craniosynostosis, Tracheomalacia |
ORPHA:137914 |
| Esophageal Atresia |
|
Coloboma, Laryngotracheomalacia, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Renal... |
ORPHA:1199 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Complete duplication of thumb phalanx, Absent thumb, Short thumb, Absent radius |
OMIM:227650 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Chand Syndrome |
|
Hydroureter, Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morpho... |
ORPHA:1401 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Aicardi Syndrome |
|
Microphthalmia, Proximal placement of thumb, Cerebellar vermis hypoplasia, Dandy-Walker malformat... |
OMIM:304050 |
| Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar... |
ORPHA:220460 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Microphthalmia, Slender long bone, Spina bifida, Metaphyseal widening |
OMIM:234100 |
| Phace Association |
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Dandy-Walker malformation, Microphthalmia, Optic nerve hypoplasia, Cerebellar hypoplasia |
OMIM:606519 |
| Retinitis Pigmentosa 74 |
|
Polydactyly, Abnormal renal morphology |
OMIM:616562 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cerebellar atrophy |
OMIM:610651 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Holoprosencephal... |
OMIM:613884 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar cyst, Microphthalmia, Buphthalmos, Hydrocephalus, Cerebellar dysplasia, Hypoplasia of ... |
OMIM:253280 |
| Mody |
|
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst |
ORPHA:552 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Congenital hip dislocation, Short palm, Short thumb, Forearm reduction defects, S... |
OMIM:268400 |
| Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly, Oligohydramnios |
OMIM:617666 |
| Alstrom Syndrome |
|
Polydactyly, Hyperostosis frontalis interna, Abnormality of the dentition, Gingivitis, Nephritis,... |
OMIM:203800 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Short foot, Small hand |
ORPHA:2108 |
| Pierson Syndrome |
|
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol... |
OMIM:609049 |
| Cockayne Syndrome B |
|
Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, Cerebellar calcifications, Hyp... |
OMIM:133540 |
| Dubowitz Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Hypoplasia of th... |
OMIM:223370 |
| Craniosynostosis And Dental Anomalies |
|
Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Dental malocclusion, Delayed eru... |
OMIM:614188 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Duplicated collecting system, Renal tubular acidosis, Renal dysplasia, Re... |
OMIM:118450 |
| Rift Valley Fever |
|
Hematemesis, Abnormal bleeding, Melena, Gingival bleeding, Retinal hemorrhage |
ORPHA:319251 |
| Traboulsi Syndrome |
|
Short finger, Microphthalmia, Cubitus valgus, Arachnodactyly, Broad hallux |
OMIM:601552 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage |
OMIM:608710 |
| Proximal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner... |
ORPHA:47159 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia |
OMIM:614653 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Cerebellar vermis atrophy, Preaxial polydactyly |
ORPHA:163681 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Adducted thumb, Unilateral microphthalmos |
OMIM:618874 |
| Linear Nevus Sebaceus Syndrome |
|
Dandy-Walker malformation, Microphthalmia, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2612 |
| Transketolase Deficiency |
|
Renal cyst, Increased level of ribose in urine |
ORPHA:488618 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Witteveen-Kolk Syndrome |
|
Microphthalmia, Radial deviation of finger, Clinodactyly of the 5th finger, Proximal placement of... |
OMIM:613406 |
| Wilson Disease |
|
Edema, Face of the giant panda sign, Ascites, Pedal edema |
OMIM:277900 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Abnormality of the hand, Bilateral microphthalmos, Clinodactyly of the 5th fi... |
ORPHA:508488 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Pearson Syndrome |
|
Steatorrhea, Renal cyst, Median cleft palate, Microcephaly, Glycosuria, Proteinuria, Renal insuff... |
ORPHA:699 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Cerebellar hypoplasia, Cerebellar atrophy, Abnormal brainstem mo... |
OMIM:301310 |
| Fontaine Progeroid Syndrome |
|
Microphthalmia, Deep palmar crease, Hydrocephalus, Cerebellar vermis hypoplasia, Absent distal ph... |
OMIM:612289 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
| Adams-Oliver Syndrome 1 |
|
Microphthalmia, Encephalocele, Brachydactyly, Toe syndactyly, Talipes equinovarus |
OMIM:100300 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Microphthalmia, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short palm, Long fingers, Tap... |
OMIM:616734 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Brachydactyly, Abnormal midbrain morphology |
ORPHA:293987 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... |
OMIM:277000 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Polyhydramnios, Single transverse palmar crease, Branchial cyst, Broad hallux, In... |
OMIM:620186 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Hip dysplasia, Intrauterine growth retardation, Tapered finger, Small hand |
OMIM:620005 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Large placenta, Congenital megaureter, Hypercalciuria, Ves... |
ORPHA:116 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Treacher-Collins Syndrome |
|
Microphthalmia, Branchial fistula, Encephalocele |
ORPHA:861 |
| Trichothiodystrophy |
|
Bilateral microphthalmos, Clubbing, Diffuse cerebellar atrophy, Umbilical hernia, Intrauterine gr... |
ORPHA:33364 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Prominent finger... |
OMIM:612474 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Microphthalmia |
OMIM:309801 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Thin long bone diaphyses, Cortical thickening of long bone diaphyses, I... |
ORPHA:93325 |
| Holoprosencephaly 1 |
|
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
| Neuroocular Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Deep palmar crease, Tibial torsion, Hyperextensib... |
OMIM:619539 |
| Lymphangioleiomyomatosis |
|
Renal neoplasm, Hematuria, Hydrocephalus, Multiple renal cysts, Abnormal urinary color, Renal ang... |
ORPHA:538 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
| Phace Syndrome |
|
Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia, Lens coloboma, Cerebellar hypo... |
ORPHA:42775 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Microphthalmia, Tibial bowing, Metaphyseal widening |
OMIM:259770 |
| Incontinentia Pigmenti |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:308300 |
| Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage |
ORPHA:91500 |
| Cockayne Syndrome Type 3 |
|
Increased blood pressure, Cardiomyopathy, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:90324 |
| Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
| Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc... |
OMIM:309000 |
| Cockayne Syndrome |
|
Cerebellar dentate nucleus calcification, Microphthalmia, Cerebellar atrophy, Abnormal epiphysis ... |
ORPHA:191 |
| Pmm2-Cdg |
|
Abnormal renal tubule morphology, Osteopenia, Long philtrum, Cerebellar vermis hypoplasia, Dandy-... |
ORPHA:79318 |
| Holoprosencephaly 2 |
|
Semilobar holoprosencephaly, Microphthalmia, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst... |
ORPHA:892 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Diffuse cerebellar atrophy |
ORPHA:93256 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Hip dislocation |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Hip dislocation |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Hip dislocation |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Hip dislocation |
ORPHA:220386 |
| Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Microphthalmia, Hypoplasia of the iris |
OMIM:175780 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia ... |
ORPHA:649 |
| Generalized Arterial Calcification Of Infancy |
|
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Pulmo... |
ORPHA:51608 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
| Morm Syndrome |
|
Abnormality of the kidney, Micropenis |
ORPHA:75858 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis |
OMIM:610156 |
