| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Microcephaly, Cleft palate... |
OMIM:613885 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxi... |
OMIM:614175 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal... |
OMIM:611134 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| 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 |
|
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx... |
OMIM:184260 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Stil... |
ORPHA:294975 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe syndactyl... |
OMIM:236500 |
| Femoral-Facial Syndrome |
|
Orofacial cleft, Coxa vara, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Long penis, Abnormal... |
ORPHA:1988 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly,... |
OMIM:614120 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Narrow chest, Thoracic ... |
OMIM:614091 |
| Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Agenesis of cerebellar vermis, Bowing of t... |
OMIM:614815 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Orofacial clef... |
ORPHA:1692 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Microcephaly, Cleft palate, Hydranencephaly, Short distal phalanx of f... |
OMIM:601355 |
| Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Renal hypoplasia/aplasia... |
ORPHA:1590 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag... |
OMIM:613091 |
| Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Cryptorchidism, Hydrocephalus, Submucous clef... |
ORPHA:2189 |
| C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Accessory oral frenulum, Mi... |
OMIM:211750 |
| Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Urinary incontinence, Accessory oral frenulum, Postaxial polydactyly, ... |
OMIM:617927 |
| Schisis Association |
|
Encephalocele, Renal agenesis, Spina bifida, Microcephaly, Micromelia, Anencephaly, Tracheoesopha... |
ORPHA:63862 |
| Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic ... |
OMIM:616546 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac... |
OMIM:619148 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyl... |
OMIM:617866 |
| Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Abnormal thorax ... |
OMIM:164180 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Multiple joint contractures, Camptodactyly of finger, Renal hypoplasia/aplasia, ... |
ORPHA:2570 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Holoprosencephaly, Narrow chest, Short ... |
OMIM:269860 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... |
OMIM:612284 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Cerebral calcification, Spina bifida, Microcephal... |
ORPHA:1393 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S... |
ORPHA:93323 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... |
OMIM:616300 |
| Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Non-... |
ORPHA:1908 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... |
ORPHA:397715 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly |
OMIM:613094 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Intrauteri... |
OMIM:616570 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the thumb, Abnormality of the philt... |
ORPHA:2935 |
| Diaphanospondylodysostosis |
|
Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, ... |
ORPHA:66637 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Nephrocalcinosis, Bell-shaped thora... |
OMIM:615633 |
| Trisomy 13 |
|
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cryptorchidism... |
ORPHA:3378 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia... |
OMIM:206920 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Renal agenesis, Non-midline cleft lip, Hydrocephalus, Anencephaly, Ab... |
ORPHA:1335 |
| Trisomy 18 |
|
Holoprosencephaly, Iris coloboma, Bilateral single transverse palmar creases, Abnormality of the ... |
ORPHA:3380 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol... |
OMIM:615665 |
| Microphthalmia, Isolated, With 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 |
|
Agenesis of cerebellar vermis, Occipital encephalocele, Abnormality of the urinary system, Postax... |
OMIM:213010 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Microcephaly, Tapered finger, Hydrocephalus, Urethral stenos... |
ORPHA:261290 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Cryptorchidism, Cleft palate, Neonatal death, Microphthalmia |
OMIM:615524 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Pectus excav... |
OMIM:258860 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern... |
ORPHA:63260 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly, Coloboma, Nephronophthisis, Micropenis |
OMIM:614464 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Agenesis of cerebellar v... |
OMIM:614424 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Anophthalmia, Arachnodactyly, Toe syndactyly, Camptodactyly of fing... |
ORPHA:261344 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Urethral atresia, Dandy-Walker malformation, Encephalocele, M... |
ORPHA:564 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Lobulated tongue, Agenesis of corpus callosum, Iris coloboma, Dandy-Walk... |
OMIM:249000 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Cryptorchidism, Posta... |
ORPHA:139471 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... |
ORPHA:1104 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Microcephaly, Postaxial ... |
OMIM:618142 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Clinodactyly of ... |
ORPHA:1106 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ... |
OMIM:617102 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow... |
OMIM:263520 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... |
OMIM:611560 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia, Polycystic kidney dysplasia |
OMIM:617562 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Pol... |
OMIM:615938 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short t... |
OMIM:613390 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Porencephalic cyst, Tibial bowing, Lobulated tongue, High palate, A... |
OMIM:277170 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Pachygyria, Renal cyst |
OMIM:614870 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Microcephaly, Postaxial poly... |
OMIM:616362 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, High pala... |
ORPHA:3103 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Cleft palate |
OMIM:612913 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Glossoptosis, High palate, Neonata... |
OMIM:311900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, H... |
OMIM:612651 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi... |
OMIM:615996 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, High, narrow palate, Aminoaciduria, High palate, Death in childh... |
OMIM:214100 |
| Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Syndactyly, Hamar... |
OMIM:311200 |
| Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Coloboma, Polydactyly, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Cryptorchidism, Renal cyst, ... |
OMIM:615982 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, ... |
ORPHA:66625 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Microcephaly, Wide mouth, Thin ve... |
ORPHA:544254 |
| Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Hydrocephalus, Flexion contracture, ... |
ORPHA:314588 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, High palate,... |
OMIM:619185 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham... |
OMIM:174300 |
| Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Branchial cyst, Branchial fistula, Congenital hip dislocation... |
OMIM:113650 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... |
ORPHA:474 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Microcephaly, Metaphyseal widening, Flexion contracture, Short long ... |
OMIM:263210 |
| Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... |
ORPHA:2369 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Limitation of joint... |
ORPHA:376 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Hypoplasia of penis, Microcephaly, Joint stiffness, Cleft palate, Clinodactyly of the 5th finger,... |
ORPHA:2216 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Coloboma, Absent distal ... |
OMIM:120400 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcep... |
ORPHA:899 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Molar tooth sign on MRI, Clin... |
ORPHA:166024 |
| Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Microcephaly, Flexion contracture, Cerebral atrophy, Renal cortical cysts, Thin... |
OMIM:609180 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Microcephaly, Tapered finger, Proximal renal tubular acidosis,... |
OMIM:181180 |
| Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplas... |
ORPHA:85284 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Polycystic kidney dysplasia |
OMIM:614859 |
| Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Renal agenesis, Optic n... |
OMIM:615583 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Median cleft lip, Toe syndactyly, Micromelia, Microcep... |
OMIM:241800 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger |
OMIM:176305 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Preaxial han... |
OMIM:236680 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, Pectus... |
OMIM:303600 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Agenesis of corpus callosum, ... |
ORPHA:2538 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst |
OMIM:614970 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... |
OMIM:615993 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Microhydranencephaly |
|
Multiple joint contractures, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ta... |
OMIM:605013 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Knee flexion contracture, High palate, Agenesis of corpus callosum, Long to... |
OMIM:608836 |
| Acrorenal-Mandibular Syndrome |
|
Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot... |
OMIM:200980 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Agenesis of corpus callosum, D... |
OMIM:256520 |
| Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, ... |
OMIM:136760 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Dandy-Walker malformation |
ORPHA:1566 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Postaxial hand polydactyly,... |
OMIM:607361 |
| Joubert Syndrome 10 |
|
Deep philtrum, Cerebellar vermis hypoplasia, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Microcephaly, Tapered finger, C... |
OMIM:613792 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal ... |
ORPHA:435638 |
| Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly |
OMIM:236110 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Hemimegalencephaly, Hypoplasia of the corpus callosum,... |
OMIM:615937 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Dental crowding, Hypospadias, Sandal gap, Postaxial polydactyly, Downtu... |
OMIM:615761 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Iniencephaly |
|
Encephalocele, Renal agenesis, Rhizomelia, Spina bifida, Rocker bottom foot, Myelomeningocele, Hy... |
ORPHA:63259 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Cryptorchidism, Short toe, Abnormal localizatio... |
ORPHA:921 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Pectus excavatum, Radi... |
ORPHA:3270 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postaxial poly... |
OMIM:605627 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... |
OMIM:225790 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... |
ORPHA:2091 |
| Campomelia, Cumming Type |
|
Death in infancy, Multicystic kidney dysplasia, Bowing of the long bones, Abnormally ossified ver... |
ORPHA:1318 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Mesoaxial hand polydactyly |
OMIM:618763 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Hypospadias, Single transverse palmar crease, Metatarsus adductus, Cryptorchidi... |
OMIM:614866 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Partial agenesis of th... |
OMIM:210710 |
| Nephronophthisis 14 |
|
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Cryptorchidism, Cleft palate, Death in chil... |
OMIM:214110 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Renal cyst, High palate, Premature loss of teeth, Iris coloboma, Dislocated radial he... |
OMIM:102500 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Microcephaly, Hip dislocation, Wide mouth, Polycystic kidney dysplasia, Long philtrum, Global bra... |
OMIM:608776 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Microcephaly, Cryptorchidism, Joint stiffness, Cleft palate, Tooth agen... |
ORPHA:1166 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
| Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho... |
ORPHA:971 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notch, Narrow ch... |
OMIM:617925 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Sprengel anomaly, Micropenis, Cryptorchidism, Hu... |
OMIM:134780 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metata... |
OMIM:305600 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis, Hypospadias, Cleft palate |
OMIM:302905 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Talipes equinovarus, Cerebellar hypoplasia, Microphth... |
OMIM:616171 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, Pectus excavatum, Hi... |
ORPHA:957 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of... |
OMIM:617127 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Joint contracture o... |
OMIM:619562 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Cryptorchidism, Deep phi... |
ORPHA:404440 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Esophageal atresia, Cryptorchid... |
ORPHA:77298 |
| Arima Syndrome |
|
Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Agenesis of cerebellar vermis, Occipital men... |
OMIM:243910 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Perianal abscess, Cryptorchidism, Clinodactyly, Pectus excavatum, Small... |
OMIM:614684 |
| Lissencephaly 8 |
|
Occipital encephalocele, Retrocerebellar cyst, Hypoplasia of the brainstem, Talipes equinovarus, ... |
OMIM:617255 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hydrocephalus, Preaxial polydactyly, Coloboma, Microphthalmia |
ORPHA:141333 |
| Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Rhyns Syndrome |
|
Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor... |
ORPHA:140976 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... |
OMIM:611263 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Microphthalmia, Syndromic 5 |
|
Joint laxity, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Coloboma, Micro... |
OMIM:610125 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... |
OMIM:263200 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| 15q26 overgrowth syndrome |
|
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl... |
DECIPHER:81 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... |
OMIM:132400 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cereb... |
OMIM:615181 |
| Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Cleft palate, Aplasia/Hypo... |
ORPHA:916 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Renal dysplasia, Postaxial polydactyly |
OMIM:615985 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia |
OMIM:615771 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Cryptorchidism, High palate, Prenatal death, Camptodactyly,... |
OMIM:618393 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m... |
OMIM:617926 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Micropenis... |
OMIM:146510 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, High palate, Broad thumb, Short finger |
OMIM:300209 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Abnormal cortical gyration, Unilateral renal agenesis, Microcephaly, Postaxial ... |
OMIM:614576 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal rib morpholog... |
ORPHA:1703 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megal... |
OMIM:600325 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of c... |
OMIM:615287 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... |
ORPHA:380 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polydactyly, Mi... |
OMIM:602501 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... |
OMIM:617895 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Hypoplasia of the pons, Occipital cortical atrophy, Thick... |
ORPHA:411986 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Renal dysplasia, Joint laxity, Abnormal cortical gyration, Postaxial polydactyly... |
OMIM:300968 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Arachnodactyly, Single transverse palmar... |
OMIM:618348 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia |
OMIM:211890 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormality of the dentition, Arthrogryposis multiplex congenita, Clin... |
OMIM:157900 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Orofacial cleft, High palate, Short phil... |
ORPHA:221120 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cleft upper lip, Microcephaly, Prominent median palatal raphe, Coloboma, Holoprosen... |
OMIM:147250 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Hydroceph... |
ORPHA:2635 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... |
ORPHA:2919 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Cleft upper lip |
ORPHA:3316 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Microcephaly, Dental malocclusion, 2-3 toe syndactyly, Large hands, Hi... |
OMIM:606232 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Ectopic kidney, Cryptorchidism, Secondary microcephaly, Cerebellar hypoplasia, ... |
OMIM:613730 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Abnormality of th... |
DECIPHER:46 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Joint hyperflexibility,... |
ORPHA:3375 |
| Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb |
ORPHA:3434 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypospadias, Microcephaly, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation o... |
ORPHA:2013 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
| Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ... |
OMIM:102370 |
| Tarp Syndrome |
|
Single transverse palmar crease, Glossoptosis, Finger syndactyly, Cryptorchidism, Alveolar ridge ... |
ORPHA:2886 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus,... |
OMIM:603387 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cerebellar vermis hypoplasia, Cerebral calcification,... |
ORPHA:228308 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Arachnodactyly, Microcephaly, Cleft lip, Cleft palate, Large hands, Thoracic kyphosis |
OMIM:300263 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Phocomelia, Wrist flexion contr... |
OMIM:268300 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
| Acalvaria |
|
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly, Aplasia... |
ORPHA:945 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst |
OMIM:605231 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Hypospadias, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Cryptorchi... |
OMIM:175700 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Mohr Syndrome |
|
Porencephalic cyst, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Sy... |
OMIM:252100 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypospadias, Partial absence of foot, Microcephaly, Anencephaly,... |
ORPHA:96176 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Hydrocephalus, Chronic kidney disease, Posta... |
OMIM:615630 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Microcephaly, Clinodactyly, Pierre-Robin sequence, Small hand, Clef... |
OMIM:619980 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Arachnodactyly, Postaxial polydactyly, Microcephaly, Tapered finger, Genu valgum, C... |
OMIM:619721 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Vesicouret... |
OMIM:616580 |
| Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the m... |
ORPHA:96149 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... |
OMIM:613155 |
| Mpdu1-Cdg |
|
Thin vermilion border, Renal cortical cysts |
ORPHA:79323 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Renal agenesis, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:313850 |
| Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Deep philtrum, Holoprosencephaly, Chorioretinal coloboma, Apla... |
ORPHA:2162 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Micr... |
OMIM:220500 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Postaxial hand polydactyly, Molar tooth sign on MRI, Superior cerebellar dysp... |
OMIM:617622 |
| Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Abnormal cerebellum morphology, Postaxial hand polydactyly, Molar too... |
OMIM:617757 |
| Ellis-Van Creveld Syndrome |
|
Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Dandy-Walker malformation, Hy... |
OMIM:225500 |
| Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprose... |
ORPHA:2117 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Genu valgum, Long thorax... |
OMIM:619142 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Cleft upper lip, Microcephaly, ... |
OMIM:610829 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
| Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth, ... |
OMIM:263630 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Clef... |
OMIM:616730 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
| Ulbright-Hodes Syndrome |
|
High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Cryptorchidism, Humeroradia... |
ORPHA:3404 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... |
OMIM:618061 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... |
OMIM:208500 |
| Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Non-... |
ORPHA:3376 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Postaxial polydactyly, Hydrocephalus, Tubular luminal dilatation, Renal cort... |
OMIM:219730 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, T... |
OMIM:612350 |
| 15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Coloboma, Microphallus, Joint laxity, Hypospadias, Cryptorchidism, M... |
ORPHA:94065 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Coloboma, High palate, Clinodactyly of the 5th fin... |
OMIM:607932 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Pectus excavatum, Renal cortical cysts, Downturned corners of mouth, Lo... |
OMIM:618548 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Dec... |
OMIM:114300 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly, Nephronophthisis |
OMIM:614845 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater scia... |
OMIM:256050 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Narrow ... |
OMIM:615777 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... |
OMIM:177170 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Coloboma, Vesicoureteral reflux, Exaggerated cupid's bow, Hypospadias, Broad hallux, Tapered fing... |
OMIM:618659 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Hydrocephalus, Red-brown ur... |
ORPHA:157 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... |
OMIM:614099 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Abnormal cortical gyration, Rocker bottom foot, Postaxial polydactyly... |
OMIM:617527 |
| Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
| Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudarthrosis, Short philtrum, Microdontia, D... |
ORPHA:2044 |
| Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Microcephaly, Cryptorchidism, Postaxial hand polyda... |
ORPHA:1702 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem... |
OMIM:613153 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Microcephaly, Cryptorchidism, Dental m... |
ORPHA:2115 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... |
OMIM:607323 |
| Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Non-midline cleft ... |
ORPHA:1752 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Abnormally ossified vertebrae, Missing ribs,... |
ORPHA:3301 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi... |
OMIM:243605 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... |
ORPHA:352665 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Unilateral renal agenesis, ... |
OMIM:216360 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition,... |
OMIM:615398 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypospadias, Avascular necrosis of the capital femoral epiphysis, Narrow mouth, ... |
OMIM:222470 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Mesoaxial hand polyda... |
OMIM:236700 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Porencephalic cyst, Renal cyst, Anteriorly placed anu... |
OMIM:117650 |
| Renal Tubular Dysgenesis |
|
Microcephaly, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Re... |
ORPHA:3033 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Macular coloboma, Coxa valga, Cleft palate, Genu valgum, Contracture of the distal... |
OMIM:216800 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Microcephaly, Broad phalanx, Short phalanx of finger, Broad m... |
OMIM:618724 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, S... |
OMIM:201000 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Abnormal metacarp... |
ORPHA:166100 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Abnormality of the elbow, Cleft palate, Oligosacchari... |
ORPHA:163649 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Microcephaly, Cryptorchidism, Limited elbow extens... |
OMIM:180870 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Renal agenesis, Cyclopia, Cleft upper lip, Microcephaly, Cryptor... |
OMIM:264480 |
| Weyers Acrofacial Dysostosis |
|
Conical tooth, Postaxial hand polydactyly, Postaxial foot polydactyly, Clinodactyly of the 5th fi... |
OMIM:193530 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Microcephaly, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxil... |
OMIM:601349 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Clef... |
OMIM:244600 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Microcephaly, Abnormality of the humerus, Preaxial hand polydactyly, L... |
ORPHA:3098 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Cerebral calcification, Increased bone mi... |
ORPHA:628 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Absent septum pellucidum, Bilateral cleft lip, Cleft upper l... |
OMIM:601357 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Esopha... |
ORPHA:3412 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Microcephaly, Aqueductal stenosis, Absent thumb, Short tibia, Humeroradial synostosis... |
OMIM:251230 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara,... |
ORPHA:93307 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
| Split-Hand/Foot Malformation 3 |
|
Split hand, Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
| Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Postaxial hand polydactyly, Hy... |
OMIM:608091 |
| Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Craniosynostosis, Cryptorchidism, Postaxial hand p... |
ORPHA:65759 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, Pectus excavatum, High, narrow palate, Cryptorchidism, Uln... |
ORPHA:1101 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contra... |
OMIM:300166 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Cryptorchidism, Renal hypop... |
ORPHA:264200 |
| Cofs Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Camptodactyly of finger, Intrauterine growt... |
ORPHA:1466 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Renpenning Syndrome |
|
Decreased testicular size, Macrodontia, Hypospadias, Microcephaly, Abnormal thumb morphology, Hig... |
ORPHA:3242 |
| Atelosteogenesis Type Ii |
|
Micromelia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad metacarpals, Ulna... |
ORPHA:56304 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Osteopathia striata, Pectus carinatum, High palate, Short philtrum, Finger jo... |
OMIM:212720 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola... |
OMIM:309800 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Finger syndactyly, Broad hallux phalanx, Hypospadias, A... |
ORPHA:2211 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hyp... |
ORPHA:2250 |
| 22Q11.2 Deletion Syndrome |
|
Short philtrum, Vesicoureteral reflux, Hypospadias, Abnormal dental enamel morphology, Spina bifi... |
ORPHA:567 |
| Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Dental crowding, Orofacial cleft, Urethral atresia, High palat... |
ORPHA:2052 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short palm, Thin upper lip vermilion, Short metacarpal, Osteopenia, Dental crowding, Avascular ne... |
OMIM:190351 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Cryptorchidism, Non-midline cleft lip, H... |
ORPHA:2075 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Meningocele, Renal cyst, Glossoptosis, Chorioretinal coloboma, Clin... |
ORPHA:2031 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microce... |
OMIM:206900 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Abnormal thorax morphology, Epiphyseal stippling, Abnormal pel... |
OMIM:302960 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Polyhydramnios |
ORPHA:3469 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Hypospadias, Rhizomelia, 2-3 toe syndactyly, Coloboma, Long philtrum, Microphthalmi... |
OMIM:615877 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Cleft palate, Fl... |
ORPHA:1856 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Thoracic hypoplasia, Coxa valga, Carious teeth, Pierre-Robin sequence, Short tho... |
OMIM:618363 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus addu... |
ORPHA:356961 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... |
ORPHA:370959 |
| Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Microcephaly, Pectus excavatum, Cryptorchidism, Non-midline cleft lip, Cleft... |
ORPHA:1636 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h... |
OMIM:615994 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ... |
OMIM:614078 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cutaneous finger syndactyly, Micr... |
OMIM:219000 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Microcephaly, Radial cl... |
ORPHA:2165 |
| Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Microcephaly, Cryptorchidism, Thick lo... |
OMIM:618950 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Renal hypoplasia/aplasia, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... |
ORPHA:2345 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot, Cleft palate |
OMIM:183700 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli... |
ORPHA:1297 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Abnormal localization of kidney, Narro... |
ORPHA:83473 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinodactyly of the 5th finge... |
OMIM:200990 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Microcephaly, Radial club hand, Cleft palate, Short philtrum, Aplasia/H... |
ORPHA:3305 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ... |
ORPHA:3320 |
| Seckel Syndrome 1 |
|
Cerebellar vermis hypoplasia, Dental crowding, Selective tooth agenesis, Abnormal finger flexion ... |
OMIM:210600 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Unilateral renal agenesis, Olivopontocerebellar hypoplasia,... |
ORPHA:457284 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Abnormal sternum morphology, Iris coloboma, Vertebral fusion, Odontogenic keratocyst... |
OMIM:109400 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... |
ORPHA:2378 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral refl... |
ORPHA:959 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate,... |
OMIM:266920 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T... |
OMIM:215140 |
| Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... |
OMIM:229850 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Dental crowding, Abnormality of the kidney, Postaxial polydact... |
OMIM:209900 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb, 2-3 toe syn... |
ORPHA:2712 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
| Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... |
ORPHA:1532 |
| Marden-Walker Syndrome |
|
High, narrow palate, Hypoplasia of the brainstem, Congenital contracture, High palate, Abnormal s... |
OMIM:248700 |
| Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Holoprosencephaly, Chorioretinal co... |
ORPHA:138 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Thin upper lip vermilion, Sagittal craniosynostosis, Hiatus hernia, Pancreatic cysts,... |
OMIM:610199 |
| Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Encephalocele, Short metacarpal, R... |
OMIM:108720 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... |
OMIM:184250 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Cleft upper lip, Cryptorchidism, Clinodactyly, Cleft palate, Tooth agenesis, Ectrodac... |
OMIM:147950 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Encephaloma... |
ORPHA:60015 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F... |
ORPHA:2092 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias, Cleft palate, Cleft upper lip |
OMIM:231060 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Flexion contracture, Widely spac... |
ORPHA:90322 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis |
OMIM:615849 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Hypospadia... |
ORPHA:2438 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:531151 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona... |
OMIM:619751 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Overlapping fingers, Overlapping toe, Uni... |
OMIM:618494 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Pierpont Syndrome |
|
Short toe, Deep palmar crease, Chiari malformation, Short finger, Prominent fingertip pads, Micro... |
ORPHA:487825 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Intestinal... |
ORPHA:2970 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Pancreatic cysts, Ureteral atresia, Stage 5 chronic ... |
OMIM:208540 |
| Pierpont Syndrome |
|
Short toe, Broad palm, Short foot, Deep palmar crease, Chiari malformation, Short finger, Short p... |
OMIM:602342 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... |
OMIM:227270 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... |
ORPHA:2752 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ... |
ORPHA:3082 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, High, n... |
OMIM:122470 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Lateral clavicle hook, Femoral bowing, Abnorm... |
OMIM:274000 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Coloboma, Uraciluria, Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
| Fryns Syndrome |
|
Tented upper lip vermilion, High palate, Narrow chest, Vesicoureteral reflux, Clinodactyly of the... |
ORPHA:2059 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short palm, Finger syndactyly, Multicystic kidney dysplasia, Cerebral calcification, Intestinal p... |
ORPHA:73246 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border o... |
OMIM:161200 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Oligodontia, High palate, Narrow chest, Broad ribs, Premature... |
OMIM:224300 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
| Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Microcephaly, Postaxial hand polydactyly, Split h... |
ORPHA:2491 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Abnormally ossified... |
ORPHA:1512 |
| Orofaciodigital Syndrome Type 1 |
|
Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Agen... |
ORPHA:2750 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Missing ribs, Hydrocephalus, Abnormality of the ureter, Tracheoesophage... |
ORPHA:1834 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Ren... |
ORPHA:2167 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned co... |
ORPHA:1507 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... |
OMIM:614922 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Postaxial polydac... |
OMIM:618460 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Multiple prenatal fractures, Flexion contracture, Micropenis, Decreased ... |
OMIM:616897 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Renal cyst, Pectus carinatum, Narrow greater sciatic notch, Short p... |
OMIM:312870 |
| Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Aplasia/Hy... |
ORPHA:36 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial ossification, V... |
OMIM:618265 |
| Marden-Walker Syndrome |
|
Epispadias, Pectus carinatum, Agenesis of corpus callosum, Bifid uvula, Abnormal penis morphology... |
ORPHA:2461 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Abnormality of the upper urinary tract, Micromelia, Abnormality of the urethra... |
ORPHA:2145 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Hypospadias, Selective tooth agenesis, Abnormal cortical gyration, Microcephaly... |
OMIM:613823 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Retrocerebellar cyst, Absent distal phalanges, Sh... |
OMIM:614219 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Osteoporosis, Cleft palate, Micropenis, Clinodactyly, Decreased testicular size |
OMIM:614838 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Finger clinodactyly, High palate, Dandy-Walker malformation, Spi... |
ORPHA:99776 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureter... |
ORPHA:2470 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Polydactyly |
OMIM:617120 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
| Trisomy 20P |
|
Reduced bone mineral density, Downturned corners of mouth, Short philtrum, Microdontia, Finger sy... |
ORPHA:261318 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia... |
ORPHA:2166 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Polydactyly-Myopia Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly |
ORPHA:2917 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Syndactyly |
OMIM:617767 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplication of thumb ph... |
ORPHA:2756 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Rhizomelia, Dumbbell-sh... |
OMIM:228520 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Gl... |
OMIM:611209 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, Increased density of ... |
OMIM:305620 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteo... |
OMIM:300373 |
| Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Prominent pa... |
OMIM:272950 |
| Kapur-Toriello Syndrome |
|
Overlapping fingers, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Single tra... |
OMIM:244300 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic acid... |
ORPHA:26791 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Genu valgum, Micropenis, Decreased testic... |
OMIM:614880 |
| Pelger-Huet Anomaly |
|
Abnormality of the dentition, Gingival overgrowth, Upper limb undergrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Clinodacty... |
ORPHA:1452 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Hydrocephalus, Metaphyseal... |
OMIM:224400 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Cleft upper lip, Joint hypermobilit... |
OMIM:607597 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Abnormal periodontium morph... |
ORPHA:480880 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Pectus excavatum, Cryptorchidism, Cleft palate, Finge... |
OMIM:244200 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Missing ribs, Hydrocephalus, Cleft palate, Coloboma, Dandy-Walker malfor... |
OMIM:220210 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Cryptorchidism, Short thumb, Radioulnar synostos... |
OMIM:194350 |
| Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Microcephaly, Increased skull ossification, Hypop... |
ORPHA:1422 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly |
ORPHA:1777 |
| Orofaciodigital Syndrome Ix |
|
Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Microcep... |
OMIM:258865 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios, Camptodactyly of finger, Symphalangism affecting the phalanges of... |
ORPHA:2547 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ... |
ORPHA:2549 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernumerary tooth, Postaxial ... |
OMIM:617088 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Renal agenesis, Aganglionic megacolon, Foot polydactyly |
ORPHA:2155 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Flexion contracture, Narrow chest, Encephalocele, Cryptorchidism,... |
ORPHA:1865 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Finger syndactyly, Toe syndactyly, Polyhydramnios |
ORPHA:261272 |
| Ogden Syndrome |
|
Congenital hip dislocation, Deep philtrum, Short philtrum, High palate, Clinodactyly of the 5th f... |
OMIM:300855 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Microcephaly, Cryptorchidism, Renal hypoplasia, Gingival overgrowth, Thi... |
ORPHA:464288 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, E... |
ORPHA:59315 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Bilateral sing... |
ORPHA:1001 |
| Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Abnormality of the dentition, Postaxial hand polydactyly, Horseshoe kidn... |
OMIM:617406 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degenerati... |
ORPHA:77299 |
| 2Q31.1 Microdeletion Syndrome |
|
Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Coloboma, Short palm, Clin... |
ORPHA:251014 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Protruding tongue, Microcephaly, Pos... |
OMIM:213300 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Microcephaly, Cryptorchidism, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Joubert Syndrome 24 |
|
Pachygyria, Postaxial hand polydactyly, Postaxial foot polydactyly, Cerebellar hypoplasia, Talipe... |
OMIM:616654 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N... |
OMIM:304120 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation, Dandy-Walker malformation |
ORPHA:3032 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Renal cyst, Bell-shaped thorax, Hypoplasia ... |
OMIM:615636 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly |
OMIM:619981 |
| Dihydropyrimidinase Deficiency |
|
Abnormal cerebral white matter morphology, Uraciluria, Talipes equinovarus, Short phalanx of fing... |
OMIM:222748 |
| Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification,... |
OMIM:114290 |
| Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnorm... |
ORPHA:3138 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... |
OMIM:614976 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Vesicouret... |
OMIM:130650 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Generalized joint laxity, Tibial bowing, Coloboma, High palate, Shor... |
ORPHA:251028 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular sy... |
OMIM:603671 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Short... |
OMIM:611717 |
| Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Flexion contracture, Cleft palate, Talipes equinovarus, Open mou... |
OMIM:147800 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Cryptorchidism, Cleft palate, Short 5th finger, Microphallus, Small plac... |
ORPHA:397590 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa... |
OMIM:272460 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia, Cerebellar vermis hypoplasia, Overlapping toe, Cerebellar hypoplasia |
OMIM:600118 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert... |
OMIM:619736 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Micropenis, Calvarial osteosclerosis, Cleft soft palate, Cryptorchi... |
OMIM:616331 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ascites, Intrauterine growth retardation |
ORPHA:858 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Non-midline cleft lip, Abnormal femur morph... |
ORPHA:3429 |
| Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad... |
OMIM:615222 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Hepatic cysts, Brachy... |
OMIM:613819 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora... |
ORPHA:952 |
| Raine Syndrome |
|
Cerebral calcification, Micromelia, High palate, Neonatal death, Microdontia, Long hallux, Death ... |
OMIM:259775 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly... |
ORPHA:2754 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Anophthalmia, Proteinuria, Foot joint contracture, Delayed eruption of prima... |
ORPHA:90321 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia |
OMIM:600273 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... |
OMIM:603546 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Hypospadias, Camptodactyly of finger, Microcep... |
ORPHA:2311 |
| Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft pal... |
ORPHA:1784 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Microcephaly, Diastema, Cryptorchidism... |
ORPHA:329224 |
| Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Hand monodactyly, Coloboma, Holoprosencephaly, Mic... |
OMIM:214800 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Agenesis of canine, Optic disc c... |
ORPHA:141099 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
| Kinsship Syndrome |
|
Osteopenia, Single transverse palmar crease, Downturned corners of mouth, Short philtrum, Widely ... |
OMIM:619297 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
| Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Postaxial hand... |
OMIM:619143 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... |
OMIM:601707 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Hors... |
OMIM:601186 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi... |
ORPHA:464329 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ... |
OMIM:147891 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Short palm, Multicystic kidney dysplasia, Hip contracture, Microcephal... |
ORPHA:85201 |
| Epidermal Nevus Syndrome |
|
Osteopenia, Weakness of long finger extensor muscles, Polycystic kidney dysplasia |
ORPHA:35125 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, High, narrow ... |
ORPHA:3015 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Rocker bottom foot, Coxa valga, Elbow flexion contracture, Dehydration, Secon... |
OMIM:214150 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot... |
OMIM:258850 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... |
ORPHA:77258 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ... |
OMIM:610758 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia |
OMIM:619111 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Bilateral microphthalm... |
ORPHA:2563 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial ne... |
OMIM:616629 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... |
ORPHA:93267 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Clinodact... |
OMIM:113620 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Intrauterine growth retardation |
ORPHA:195 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Generalized joint laxity, Coloboma, Thoracic kyphosis, Hypermobility of inter... |
ORPHA:508498 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... |
OMIM:187600 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... |
OMIM:602196 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tra... |
OMIM:314390 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Microcephaly, Ectopic kidney, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar emi... |
OMIM:239800 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Hypodysplasia of the corpus callosum, ... |
OMIM:257300 |
| Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Micropenis, Agenesis of corpus callosum, Hypospadias, Cryptorchidism, Post... |
OMIM:301056 |
| Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Pierre-Robin sequence, Downturned corners of mouth, Coloboma,... |
OMIM:611961 |
| Acrocraniofacial Dysostosis |
|
Craniosynostosis, Microcephaly, Tapered finger, Coxa valga, Pectus excavatum, Cleft palate, Ulnar... |
ORPHA:949 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger,... |
OMIM:166250 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hand polydactyly, Foot polydactyly, M... |
ORPHA:2318 |
| Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Lateral clavicle hook, High, narrow palate, 2-3 toe cu... |
OMIM:600920 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Microcephal... |
OMIM:247200 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia... |
ORPHA:1770 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Pierre-Robin sequence, Flared metaphysis, Flexion contr... |
OMIM:215150 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, 2-3 toe cutaneous syndactyly, Renal cyst, Short philtrum, Microphal... |
OMIM:618454 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Coloboma, An... |
OMIM:619318 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ... |
OMIM:170390 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Thin upper lip vermilion, Short metacarpal, Hypospadias, Abnormal dental enamel mor... |
ORPHA:439822 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
| Lujo Hemorrhagic Fever |
|
Shock, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemorrhage, Bradycar... |
ORPHA:319213 |
| Joubert Syndrome 23 |
|
Coloboma, Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele, Postaxial polydactyly type A |
ORPHA:1003 |
| Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cryptorchidism, Clef... |
OMIM:164745 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger |
OMIM:182230 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
| Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, Delayed epiphyseal ossi... |
OMIM:156550 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Pectus carinatu... |
ORPHA:464738 |
| Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Joint laxity, Arachnodactyly, Rhizomelia, Overlapping to... |
ORPHA:3379 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Tapered finger, Bilateral cleft lip and palate, Thin vermilion bord... |
OMIM:618829 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Hypospadias, Aganglionic megacolon, Microcephaly, Cleft palate, Hypoplasia of ... |
ORPHA:66629 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Distal clavicular thinning, Micromelia, Microceph... |
OMIM:600092 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short thu... |
ORPHA:436003 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, S... |
OMIM:618161 |
| Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of ... |
ORPHA:391474 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Cerebellar hypoplasia |
OMIM:606744 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Epispadias, Partial agenesis of the corpus... |
OMIM:615948 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly, Microcephaly |
OMIM:617119 |
| Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Clef... |
ORPHA:1926 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Microcephaly, ... |
OMIM:612530 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Craniosynostosis, Metaphyseal chondrodysp... |
OMIM:250410 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Polycystic kidney ... |
ORPHA:2237 |
| 2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Toe clinodactyly, Sandal gap, Optic nerv... |
ORPHA:261349 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
| Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C... |
OMIM:620107 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Craniosynostosis, Metaphyseal chondrodysplasia, Cryptorchidism, ... |
ORPHA:166035 |
| Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Abnormal rib morpholo... |
OMIM:601076 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumst... |
OMIM:612938 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocep... |
ORPHA:220497 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Hypospadias, Microcephaly, Joint stiffne... |
OMIM:619184 |
| Alkuraya-Kucinskas Syndrome |
|
Cerebellar dysplasia, Overlapping toe, Edema, Pericardial effusion, Hydrocephalus, Cutaneous synd... |
OMIM:617822 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Brachydac... |
OMIM:602361 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Death in childhood, Neonatal death, Arthrogryposis multiplex conge... |
OMIM:619334 |
| Xylt1-Cdg |
|
Joint laxity, Microcephaly, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick v... |
ORPHA:370930 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Joint stiffness, Non-midline cleft li... |
ORPHA:245 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Thoracic hypoplasia, Cerebral dysmyelination, Corpus callosum atrophy, Pectus excavat... |
OMIM:261515 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Single transverse palmar crease, Microcephaly, 2-3 toe s... |
OMIM:616449 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism affecting the phalange... |
ORPHA:2658 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation |
ORPHA:48431 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossification of carpal ... |
OMIM:614613 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Holoprosencephaly, Advanced eruption of teeth, ... |
ORPHA:818 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Delayed epiphyseal ossifica... |
ORPHA:485 |
| Meier-Gorlin Syndrome 1 |
|
Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum, Cutaneous finge... |
OMIM:224690 |
| Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hypospadias, Cleft soft palate, Rocker bottom foot, Pectus excava... |
OMIM:606851 |
| Carey-Fineman-Ziter Syndrome |
|
Cerebral calcification, Aplasia/Hypoplasia of the tongue, Microcephaly, Pierre-Robin sequence, Ap... |
ORPHA:1358 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong... |
ORPHA:2751 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Abn... |
OMIM:239300 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly |
OMIM:619694 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Flexion contracture, Stage 5 chronic kidney disease, H... |
OMIM:608612 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... |
OMIM:618914 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Single transverse pa... |
OMIM:614701 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Renal cyst, Downturned corners of mouth, Vesicou... |
ORPHA:261494 |
| Fanconi Anemia, Complementation Group R |
|
Absent thumb, Hydrocephalus, Chiari type I malformation, Microphthalmia, Radial dysplasia |
OMIM:617244 |
| Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... |
OMIM:120330 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Porencephalic cyst, Narrow greater sciatic notch, Long fibula, N... |
OMIM:250220 |
| Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hand polydactyly, Foot polydactyly, M... |
ORPHA:220493 |
| Melnick-Needles Syndrome |
|
Tibial bowing, Narrow chest, Ureteral stenosis, Cone-shaped epiphyses of the phalanges of the han... |
OMIM:309350 |
| C Syndrome |
|
Micromelia, High palate, Clinodactyly of the 5th finger, Dislocated radial head, Abnormality of t... |
ORPHA:1308 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep ph... |
ORPHA:251038 |
| Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Lissencephaly, Secondary microce... |
OMIM:614583 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Unilateral renal agenesis, Cryptorchi... |
OMIM:101800 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Orofacial cleft, Coloboma, High palate, Widely spaced teeth, Microdontia, Ab... |
ORPHA:2322 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Microcephaly, Renal hypoplasia/aplasia, Apla... |
ORPHA:1234 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Renal cyst, Narrow chest, Absent or minimally ossified vertebral... |
ORPHA:93271 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Block verteb... |
OMIM:164210 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Pectus carinatum, Downturned corners of mouth, Periodontitis, Decreased skull ossific... |
ORPHA:955 |
| Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Microcephaly, Pyloric... |
ORPHA:912 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:251270 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Hypoplasia of the pons, Clef... |
OMIM:616975 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyp... |
OMIM:300219 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Cerebellar vermis hyp... |
ORPHA:1454 |
| Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Micromelia, Proximal placement of thumb, Partial agene... |
OMIM:270400 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha... |
ORPHA:974 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Oligohydramnios, Microphthalmia, Intrauterine growt... |
ORPHA:228390 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Pectus excavatum, Palmar pits, Hyd... |
ORPHA:77301 |
| 20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Microcephaly, Polydactyl... |
ORPHA:313781 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
| Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly,... |
ORPHA:97360 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
| Congenital Myopathy 17 |
|
Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excavatum, Clinodactyly, Dent... |
OMIM:618975 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microp... |
OMIM:615249 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Cleft pala... |
OMIM:248340 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Microcephaly, Cryptorchidism, Shor... |
OMIM:224410 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Sandal gap, Tapered finger |
ORPHA:1438 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Renal hypoplasia, Joint h... |
ORPHA:1475 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino... |
ORPHA:373 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Cerebral calcification, High, narrow p... |
ORPHA:2780 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Hi... |
ORPHA:2879 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly p... |
ORPHA:798 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Abnormally large globe, High palate, Short palm, Short phalanx of finger, Cortical ir... |
OMIM:249420 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Hypoplasia of penis, Cerebral calcification, Toe syndactyly, ... |
ORPHA:46059 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Mitten d... |
OMIM:609638 |
| Oliver Syndrome |
|
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Dental malocclusion... |
ORPHA:2920 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Joint hypermobility, Craniosynos... |
ORPHA:369837 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Abnormally large globe, Pectus carinatum, Shoulder dislocation, Narrow chest, Microdo... |
OMIM:245600 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the e... |
OMIM:610168 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:617056 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren... |
OMIM:615560 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst, Death in infancy |
OMIM:614862 |
| Jacobsen Syndrome |
|
Pachygyria, Agenesis of corpus callosum, Long hallux, Iris coloboma, Abnormality of the anus, Bro... |
ORPHA:2308 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin |
OMIM:617718 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Abnormality of the upper urinar... |
ORPHA:2916 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Pursed lips, Dea... |
ORPHA:800 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Hyperphosphaturia, Recurrent fractures, Abnormal toe mor... |
OMIM:163200 |
| Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Polymicrogyria, Multiple renal cysts, Renal cyst, Lissencephaly |
OMIM:614883 |
| Laurence-Moon Syndrome |
|
Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Wiedemann-Steiner Syndrome |
|
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Tapered finger, Cr... |
OMIM:605130 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ... |
OMIM:619306 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth ... |
OMIM:601559 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Limited elbow movement, Pierre-Robin sequence, Hip dislocation, Cleft palate... |
OMIM:183900 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ov... |
OMIM:616738 |
| Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... |
ORPHA:107 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Cerebral white matter atrophy, Tented upper lip vermilio... |
ORPHA:521426 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Monosomy 18P |
|
Lymphedema, Microphthalmia, Holoprosencephaly, Brachydactyly |
ORPHA:1598 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Renal cyst, Hypoplasia of the brainstem, Clinodactyly of the 5th fin... |
ORPHA:464306 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ... |
ORPHA:534 |
| Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:614527 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Marshall Syndrome |
|
Knee osteoarthritis, Meningeal calcification, Clinodactyly of the 5th finger, Small proximal tibi... |
OMIM:154780 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... |
OMIM:619471 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation |
OMIM:610756 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ... |
ORPHA:500095 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... |
OMIM:602535 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Buphthalmos, Hypoplasia of th... |
OMIM:613150 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Micr... |
ORPHA:261236 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
| Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly... |
OMIM:615989 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Thoracolumbar kyphosis, Narrow greater sciatic notch, Short phalanx of fi... |
ORPHA:508533 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cryptorchidism, Cleft palate, Downturned c... |
OMIM:614230 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap |
OMIM:300887 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral ... |
OMIM:107480 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Pectu... |
OMIM:615349 |
| Cranioectodermal Dysplasia 2 |
|
Renal cyst, Fused teeth, High palate, Widely spaced teeth, Narrow chest, Microdontia, Joint laxit... |
OMIM:613610 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Cortical dysplasia, Chronic kidney disease, Stage... |
ORPHA:805 |
| Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A... |
ORPHA:3474 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Clinodactyly, Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Ta... |
OMIM:616789 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Cleft ... |
OMIM:263750 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cleft palate, Hand ... |
ORPHA:261197 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Cryptorchidism, Postaxial hand polydactyly, Alveolar ... |
OMIM:235255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Coloboma, Hypoplasia of the brainstem, Congenital contracture, Pachygyri... |
OMIM:236670 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Knee flexion contracture, Anteriorly placed anus, Cutane... |
OMIM:151050 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Intrauterine growth retardation, Camptodactyly, Microphthalmia, Clinodactyly,... |
OMIM:618804 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow... |
ORPHA:290 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, High... |
OMIM:271640 |
| Familial Visceral Myopathy |
|
Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Microcephaly, Joint ... |
ORPHA:2604 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding |
ORPHA:88 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Bowing of the legs, Long hallux, Renal cyst, Macroglossia, Coloboma, Large han... |
OMIM:617107 |
| Craniofrontonasal Syndrome |
|
Coronal craniosynostosis, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Joint laxi... |
OMIM:304110 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Femoral bowing, Stillbirth, Talipes equinovarus, Cystic renal dysplasia, Enlarged ... |
OMIM:615415 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Basal ganglia calcification, High palate, Joint contracture of the 5th ... |
OMIM:164200 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Cleft... |
OMIM:618469 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Cleft palate,... |
ORPHA:2021 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| Mend Syndrome |
|
Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fingers, 2-3 toe syndactyly, H... |
OMIM:300960 |
| Distal Deletion 15Q |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Generalized joint laxity, Finger c... |
ORPHA:1596 |
| Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... |
ORPHA:99826 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Proximal placement of thumb, Clinodactyly of the 5th toe, Partial ag... |
OMIM:620113 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Paten... |
OMIM:192350 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Ectopic kidney, Microcephaly, Absent radi... |
ORPHA:233 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont... |
OMIM:157980 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Shortening of all distal phal... |
OMIM:619135 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Microcephaly, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
| Adnp Syndrome |
|
Urinary incontinence, Single transverse palmar crease, Abnormal finger morphology, Advanced erupt... |
ORPHA:404448 |
| Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Joint hypermobility, Microcephaly, High, narrow palate, ... |
ORPHA:2714 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Aplasia/Hypo... |
ORPHA:570 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn... |
OMIM:217085 |
| Mosaic Trisomy 8 |
|
Decreased testicular size, Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Limitation ... |
ORPHA:96061 |
| Myhre Syndrome |
|
Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Cr... |
ORPHA:2588 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Duplicated collecting system, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot,... |
ORPHA:488642 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... |
ORPHA:93929 |
| Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Narrow chest... |
OMIM:119600 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, High, narrow palate, Congenital contracture, High palate, Cavum septum pelluci... |
OMIM:208150 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Hypoplasia of first ribs, Foot oligodactyly... |
OMIM:154400 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Cleft lip, Cryptorchidism, Clinodactyly, Dental malocclusion, Gingival overgrowth, Cl... |
OMIM:616894 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Postaxial h... |
ORPHA:110 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Chiari malformation,... |
OMIM:609053 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Dentinogenesis imperfecta, Cone-shaped epiphyses of the phalanges of the h... |
OMIM:619269 |
| Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Abnormal midbrain morphology, Tapered finger, Hypoplasia of the ... |
ORPHA:444072 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Chorioretinal coloboma, Triphalangea... |
ORPHA:857 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... |
OMIM:143095 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Camptodactyly of finger, Polyhydramnios, Hand clenching, Microphtha... |
OMIM:616920 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
| Lathosterolosis |
|
Toe syndactyly, Microcephaly, Myelomeningocele, Postaxial hand polydactyly, Osteoporosis, Gingiva... |
OMIM:607330 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal stern... |
ORPHA:2519 |
| Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atre... |
OMIM:115470 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hyp... |
OMIM:614643 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Short thumb, Osteoporosis, Cleft palate, Horseshoe kidney,... |
OMIM:612562 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Tapered finger, Hypoplasia of the pons, Shortening of all distal... |
OMIM:616202 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of... |
ORPHA:2636 |
| Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:617563 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Alg3-Cdg |
|
Hypoplasia of the pons, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tube ... |
ORPHA:79321 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Downturned corners of... |
OMIM:265000 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Postaxial hand polydactyly, Renal hypoplasia, Everte... |
ORPHA:75389 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Squared iliac bones, Hypoplastic pubic bone, ... |
OMIM:258480 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormality of the kidney, Protruding tongue, Hydrocephalus, Gingival ov... |
ORPHA:93400 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Elbow flexion contracture, Ab... |
ORPHA:79139 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
| Trisomy 10P |
|
Thumb contracture, Abnormality of the kidney, Periventricular white matter hypodensities, Abnorma... |
ORPHA:171929 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Microcephaly, Cryptorchidism, Cleft palate, Furrowed tongue, Downtu... |
ORPHA:453499 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Abnormally large globe, Cryptorchidism, Postaxial hand polydactyly, Abn... |
ORPHA:1655 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Tetrasomy 9P |
|
Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5t... |
ORPHA:3310 |
| Temtamy Syndrome |
|
Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly |
OMIM:218340 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Abnormality of the palmar creases, Abnormal cerebellum morphology |
OMIM:618652 |
| Catel-Manzke Syndrome |
|
Single transverse palmar crease, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the... |
OMIM:616145 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Intestinal malrotation, Non-acidotic proximal tubulopathy, Partial agenesis of the c... |
OMIM:222448 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventricle, Hydrocephalus, Parti... |
OMIM:220220 |
| Scarf Syndrome |
|
Craniosynostosis, Cryptorchidism, Perineal hypospadias, Micropenis, Joint hyperflexibility, Pectu... |
ORPHA:3134 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, High palate, Narrow chest, Vertebral fusion, Cleft upper... |
OMIM:213980 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Esophageal varix, Olig... |
ORPHA:731 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Craniosynostosis, Cryptorchidism, Accessory carpal bones, Cleft... |
ORPHA:503 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, ... |
OMIM:180849 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Microcephaly, Tapered fing... |
ORPHA:464311 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Abnormal rib cage morphology, Hand poly... |
OMIM:217100 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Foot polydacty... |
ORPHA:250989 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Single transverse palmar crease, Flexion contracture, Pectus carinatum, Narrow chest,... |
OMIM:130070 |
| Caroli Disease |
|
Esophageal varix, Polycystic kidney dysplasia |
ORPHA:53035 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, S... |
ORPHA:221016 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Abnormality of the kidney |
OMIM:613464 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Buphthalmos, Abnormal pons morpholog... |
ORPHA:370997 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... |
ORPHA:163961 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the cerebellum, Microce... |
ORPHA:1052 |
| Retinoblastoma |
|
Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Monosomy 9P |
|
Hypospadias, Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormality... |
ORPHA:261112 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Micropenis... |
OMIM:263650 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Coloboma, Osteopetrosis, Clinodactyly of the 5th finger, Micropht... |
OMIM:617306 |
| Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of tongue, Bilateral cr... |
ORPHA:434179 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Fetal pyel... |
ORPHA:264450 |
| 3Mc Syndrome 1 |
|
Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Microcephaly, Cl... |
OMIM:257920 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem, Talipes equinovarus, Cam... |
OMIM:251300 |
| Renpenning Syndrome 1 |
|
Coloboma, High palate, Short philtrum, Death in childhood, Clinodactyly of the 5th finger, Hyposp... |
OMIM:309500 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Death in childhood, Proximal tubulopathy, Protein-losing enteropathy... |
OMIM:602579 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Lymphedema |
ORPHA:79279 |
| Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Renal hypoplasia, Colitis, Polycystic kidney dysplasia |
ORPHA:84064 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Holoprosencephaly, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial bowing,... |
ORPHA:672 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
| 3Mc Syndrome 2 |
|
Hypospadias, Joint hypermobility, Limited elbow movement, Cleft upper lip, Craniosynostosis, Cryp... |
OMIM:265050 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
| Turnpenny-Fry Syndrome |
|
Cerebellar vermis hypoplasia, Dental crowding, Prominent interphalangeal joints, Downturned corne... |
OMIM:618371 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Thin upper lip vermilion, Villous atrophy, Cerebellar vermis hypoplasia, Proteinuria,... |
OMIM:212065 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Aqueductal stenosis, Coloboma, Neonatal death, Syndactyly, Broad first metatarsal, Re... |
OMIM:619534 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu... |
OMIM:617063 |
| Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Thin upper lip vermilion, Hypospadias, Microcephaly, Cryptorchidism, Small h... |
OMIM:300712 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneov... |
ORPHA:261537 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Larsen Syndrome |
|
Short metatarsal, Pectus carinatum, Spina bifida occulta, Joint laxity, Vertebral fusion, Short m... |
OMIM:150250 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Microdon... |
OMIM:615873 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Single transverse palmar crease, Oligohydramnios |
OMIM:619053 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Short philtrum, Chorioretinal coloboma, Aplasia/Hypoplas... |
ORPHA:50 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Absent s... |
ORPHA:2556 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
| Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Ectopic kidney, Partial agenesis of the corpus ca... |
OMIM:135900 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Arachnodactyly, Edema, Hip dislocation, Camptodactyly, Microphthalmia, Intrau... |
OMIM:617729 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Marcus-Gunn Syndrome |
|
Cleft lip, Coloboma, Nephrolithiasis, Cleft palate |
ORPHA:91412 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Bardet-Biedl Syndrome 2 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:615981 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Cerebellar hypoplas... |
OMIM:253800 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely... |
ORPHA:199 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Polyhydramnios |
ORPHA:314621 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Deep philtrum, Renal cyst, Wide mouth, Talipes equinovarus, Hypoplasia of the corpu... |
OMIM:617260 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
| Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... |
OMIM:601358 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Periventricular cysts, Orofacial cleft, Downturned corners of mo... |
OMIM:194190 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Broad hallux, Single transverse palmar crease |
OMIM:614105 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hypoplasia of the bladde... |
ORPHA:79404 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Joint stiffness, Cryptorchi... |
ORPHA:1300 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Hip dysplasia, Cerebellar vermis hypoplasia, Intrauterine growth retardation |
ORPHA:494344 |
| Scarf Syndrome |
|
Barrel-shaped chest, Cryptorchidism, Coronal craniosynostosis, Perineal hypospadias, Micropenis, ... |
OMIM:312830 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Microphthalmia, Cerebellar cyst |
OMIM:616538 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, High, narrow palate, Epispadias, Clinodactyly of the 5th finger, Bifid uvula... |
ORPHA:2554 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Cleft upper lip, Pectus excavatum, Cleft palate, Wide mouth, Oligodontia, Micro... |
OMIM:201180 |
| Caroli Syndrome |
|
Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
| Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Hypospadias, Craniosynostosis, Cleft upper lip, Alobar holoprosence... |
OMIM:615465 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val... |
ORPHA:193 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Cerebral calcification, Bowing of the long bones, Coloboma, H... |
ORPHA:199276 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Frontal open bite, Short toe, Gingival overgrowth, Gingival hyperkerato... |
OMIM:225410 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Widely spaced teeth, Clinodactyly of the 5th finger, Spina bifi... |
ORPHA:709 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... |
OMIM:218600 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
| Peutz-Jeghers Syndrome |
|
Intestinal obstruction, Esophageal neoplasm, Enlarged polycystic ovaries, Rectal prolapse, Abnorm... |
ORPHA:2869 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Micromelia, Craniosynostosis, Postaxial hand polydactyly, Hypoplasia of the sm... |
OMIM:200995 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Upper limb asymmetry, Edema |
ORPHA:2505 |
| Distal Deletion 3P |
|
Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, Downturned corners of mou... |
ORPHA:1620 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneov... |
ORPHA:2152 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
| Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... |
OMIM:302350 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, C... |
ORPHA:369891 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Abn... |
ORPHA:221008 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Overlapping toe, Microcephaly, Partial agenesis of the cor... |
OMIM:617478 |
| Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Micro... |
OMIM:603467 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Absent mesencephalon, Cerebella... |
OMIM:601374 |
| Holoprosencephaly 3 |
|
Microcephaly, Cleft lip, Cleft palate, Hydronephrosis, Holoprosencephaly, Solitary median maxilla... |
OMIM:142945 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Cerebral atrophy, Renal cyst, Nephrocalcinosis, Abnormal basal ganglia morph... |
ORPHA:445038 |
| Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis... |
ORPHA:79500 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Corneal... |
OMIM:601812 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Abn... |
ORPHA:3472 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Trache... |
OMIM:614083 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Col... |
ORPHA:2874 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
| Bohring-Opitz Syndrome |
|
Ulnar deviation of the wrist, Microcephaly, Pectus excavatum, Cleft lip, Limitation of joint mobi... |
ORPHA:97297 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Oligohydramnios, Micr... |
OMIM:613451 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:612379 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Rickets, Renal cyst, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Dysgenesis of the cerebellar vermi... |
OMIM:619479 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Short foot, Severe intrauterine growth retardation, Short palm, Microphthalmia |
OMIM:241410 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:267010 |
| Degcags Syndrome |
|
Osteopenia, Bilateral renal hypoplasia, High palate, Agenesis of corpus callosum, Syndactyly, Hyp... |
OMIM:619488 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Orofacial cleft, Reduced bone mi... |
ORPHA:1556 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... |
OMIM:257850 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypoplasia of the brainstem, Widely spaced teeth, Micropenis, Iris coloboma, Hypospadias, Cleft s... |
ORPHA:268261 |
| Refsum Disease |
|
Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe |
ORPHA:773 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneov... |
ORPHA:261552 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, H... |
OMIM:610828 |
| Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Abnormal mitochondrial shape, Hypospa... |
ORPHA:17 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
| Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... |
ORPHA:2729 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Abnormality of the kidney, Down-sloping shoulders, Cryptorchidism, Cleft lip, C... |
ORPHA:1724 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Abn... |
ORPHA:1606 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Thin vermilion border, High palate, Polyd... |
OMIM:619869 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement... |
OMIM:261540 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malformation, Hydrom... |
ORPHA:268810 |
| Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Long penis, Gingival overgrowth, Furrowed tongue, ... |
ORPHA:769 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Hypercalci... |
ORPHA:18 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Knee flexion contracture, Anteriorly placed anus, Micropenis, Pachygy... |
OMIM:606170 |
| 47,Xyy Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Finger clinodactyly, Dysgenesis of the cerebellar v... |
ORPHA:8 |
| Pagod Syndrome |
|
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Abnormal clavicle morphology, Spin... |
ORPHA:991 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Coloboma, High palate, Vesicoureteral reflux, Joint laxity, Syndactyly, Hypospad... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Coloboma, High palate, Vesicoureteral reflux, Joint laxity, Syndactyly, Hypospad... |
ORPHA:353277 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Deep philtrum, Tented upper lip vermilion, High palate |
ORPHA:314655 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Hydrops fetalis, Foot polydactyly, Short palm, Microphthalmia |
ORPHA:268249 |
| Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Orofacial clef... |
ORPHA:475 |
| Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral re... |
OMIM:308205 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Small hand, Azoospermia, Broad finger, Long philtrum, Short phalanx of ... |
OMIM:300845 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Duplication of phalanx of hallux |
OMIM:243310 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidi... |
ORPHA:2241 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephroc... |
ORPHA:904 |
| Atelis Syndrome 2 |
|
Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Microcephaly, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypopl... |
OMIM:612731 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Hydrocephalus, Abnormal brainstem morphology, Abnormal hip bone morphology, Aplas... |
ORPHA:2720 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine... |
OMIM:620098 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Ureterocele, Vesicour... |
OMIM:129900 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Hand polydactyly,... |
ORPHA:401973 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Overlapping toe |
OMIM:618571 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers |
ORPHA:335 |
| Elsahy-Waters Syndrome |
|
Bilateral cryptorchidism, Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid... |
OMIM:211380 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Microcephaly, Cleft lip, Cleft palate, Submucous cleft of soft and hard... |
OMIM:301022 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Long fingers, Cerebellar vermis atrophy, Dandy-Walker malformation |
OMIM:156610 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Multiple renal cysts, Talipes equinovarus, R... |
OMIM:618733 |
| Proteus Syndrome |
|
Abnormal finger morphology, Renal cyst, Chorioretinal coloboma, Clinodactyly of the 5th finger, A... |
ORPHA:744 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Epiphyseal stippling |
OMIM:601539 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe |
OMIM:614225 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Hypoplasia of the iris, Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malfor... |
OMIM:613001 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Renal cyst, Cleft palate, Polycystic ovaries, Microphthalmia, Agenesis of corpus c... |
ORPHA:137675 |
| Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, Death in childh... |
OMIM:600460 |
| Micro Syndrome |
|
Microphthalmia, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Intrauterine growth... |
ORPHA:2510 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
| Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Pancreatic cysts, Bone cyst, Renal cyst, Abnormal sternum morpho... |
ORPHA:284 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th... |
ORPHA:568 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... |
ORPHA:364577 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... |
ORPHA:1587 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Bone cyst, Renal cyst, Ovarian cyst, Membranous nephropathy, Hepa... |
ORPHA:400 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph... |
OMIM:184705 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... |
ORPHA:35173 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Microphthalmia |
OMIM:615663 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Ectopic kidney, High, narrow palate, Reduced bone mineral density, Dermatoglyphic rid... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Ectopic kidney, High, narrow palate, Reduced bone mineral density, Dermatoglyphic rid... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Ectopic kidney, High, narrow palate, Reduced bone mineral density, Dermatoglyphic rid... |
ORPHA:99226 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o... |
ORPHA:3186 |
| Turner Syndrome |
|
Osteopenia, Ectopic kidney, High, narrow palate, Reduced bone mineral density, Dermatoglyphic rid... |
ORPHA:881 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Flexion ... |
OMIM:601803 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Cerebral white matter atrophy, Multiple joint contractures, Abnormal globus pallidus morphology, ... |
ORPHA:99646 |
| Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease, Gastric ulcer, Short phalanx of finger, Hip dysplasia |
OMIM:208060 |
| Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... |
ORPHA:84 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen... |
ORPHA:284160 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
| Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:614222 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th... |
OMIM:300895 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cerebellar vermis hypoplasia, Hypospadias, Optic nerve hypoplasia, Microcephaly, Hypoplasia of th... |
ORPHA:495875 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616395 |
| Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia |
OMIM:619476 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Coloboma, Vesicoureteral reflux, Joint laxity, Hypospadias, Broad hallux, Crypto... |
ORPHA:353281 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge... |
OMIM:119500 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Cere... |
ORPHA:261265 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Abnormal palmar dermatoglyphics, Intrauterine growth retardation |
ORPHA:2728 |
| Myhre Syndrome |
|
Overlapping toe, Pericardial effusion, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Intr... |
OMIM:139210 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, 2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Olivo... |
ORPHA:468631 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Cerebral calcification, Gingival fibromatosis, Renal cyst, Hemimegalencephaly... |
OMIM:191100 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... |
ORPHA:49 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Cleft lip, Cryptorchidism, Dental malocclusion, Cleft palate, Hypoplasia of teeth, C... |
OMIM:603457 |
| Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Osteoporosis, Nephrolith... |
ORPHA:99880 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
| Jacobsen Syndrome |
|
Brachydactyly, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Clinodactyly of the 5th fing... |
OMIM:147791 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Abnormal dig... |
ORPHA:95494 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse... |
ORPHA:1236 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Osteoporosis, Nephrolith... |
ORPHA:143 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Craniosynostosis, Hydro... |
OMIM:609192 |
| Monosomy 13Q34 |
|
Microcephaly, Fetal pyelectasis, Postaxial hand polydactyly, Postaxial foot polydactyly, Agenesis... |
ORPHA:96168 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:600901 |
| Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
| Tetraamelia Syndrome 1 |
|
Renal agenesis, Cleft upper lip, Hydrocephalus, Cleft palate, Urethral atresia, Hypoplastic pelvi... |
OMIM:273395 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ... |
OMIM:227645 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Tuberous Sclerosis 2 |
|
Cerebral calcification, Absence of renal corticomedullary differentiation, Gingival fibromatosis,... |
OMIM:613254 |
| 3Q29 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Tapered finger |
ORPHA:65286 |
| Esophageal Atresia |
|
Barrett esophagus, Renal agenesis, Intestinal malrotation, Cleft lip, Pyloric stenosis, Laryngotr... |
ORPHA:1199 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum... |
ORPHA:306542 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227650 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh... |
OMIM:608670 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Choanal Atresia |
|
Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Wilson Disease |
|
Ascites, Pedal edema, Edema, Face of the giant panda sign |
OMIM:277900 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Proximal placement of thumb, Chiari malformation, Mic... |
OMIM:304050 |
| Legius Syndrome |
|
Nephrolithiasis, Diaphyseal dysplasia, Abnormal sternum morphology, Male urethral meatus stenosis... |
ORPHA:137605 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting ... |
ORPHA:47159 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Abnormality of the hand, Metaphyseal widening, Slender long bone, Microphthalmia |
OMIM:234100 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Hypoplasia of the brainstem, Cerebellar hyp... |
OMIM:253280 |
| Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Polydactyly |
OMIM:616562 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Hip dislocation, Umbilical hernia, Holoprosence... |
OMIM:613884 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Microphthalmia |
OMIM:610651 |
| Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios, Cutaneous syndactyly |
OMIM:617666 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm,... |
OMIM:268400 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
| Dubowitz Syndrome |
|
Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing... |
OMIM:223370 |
| Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, Sagittal craniosynostosi... |
OMIM:614188 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnor... |
OMIM:118450 |
| Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
| Hallermann-Streiff Syndrome |
|
Small hand, Short foot, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia |
ORPHA:2108 |
| Cockayne Syndrome B |
|
Cerebellar calcifications, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, ... |
OMIM:133540 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
| Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding |
ORPHA:319251 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Adducted thumb |
OMIM:618874 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Cerebellar vermis atrophy |
ORPHA:163681 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia |
OMIM:601552 |
| Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Dandy-Walker malformation |
ORPHA:2612 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| 8Q24.3 Microdeletion Syndrome |
|
Long toe, Branchial cyst, Congenital hip dislocation, Short femur, Single transverse palmar creas... |
ORPHA:508488 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... |
OMIM:613406 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Hydrocephalus, Oligohydramnios, Deep palmar crease, Abs... |
OMIM:612289 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Brachydactyly |
OMIM:100300 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cryptorchidism, Large placenta, Nephrolithiasis, Cleft palate, Hypercalciur... |
ORPHA:116 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Brachydactyly |
ORPHA:293987 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Microcephaly, Lacticaciduria, Renal cyst, Steatorrhea, Glycosur... |
ORPHA:699 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic... |
OMIM:616734 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Broad hallux, Single transverse palmar crease, Polyhydramnios, Microphthalmia, Cl... |
OMIM:620186 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Tapered finger, Small hand, Hip dysplasia, Microphthalmia, Intrauterine growth retardation |
OMIM:620005 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyuria, Cryptorchidism, Coloboma, Protein-losing enteropathy, Renal dysplasia |
OMIM:618183 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
| Trichothiodystrophy |
|
Bilateral microphthalmos, Clubbing, Umbilical hernia, Diffuse cerebellar atrophy, Intrauterine gr... |
ORPHA:33364 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma... |
OMIM:612474 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:309801 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Holoprosencephaly 1 |
|
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Cortical thickening... |
ORPHA:93325 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang... |
ORPHA:538 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malfor... |
ORPHA:42775 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage |
ORPHA:91500 |
| Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
| Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Cardiomyopathy, Subdural hemorrhage, Increased blood pressure |
ORPHA:90324 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth... |
OMIM:309000 |
| Pmm2-Cdg |
|
Osteopenia, Thin upper lip vermilion, Joint laxity, Cerebellar vermis hypoplasia, Proteinuria, Mu... |
ORPHA:79318 |
| Holoprosencephaly 2 |
|
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
| Cockayne Syndrome |
|
Cerebellar atrophy, Microphthalmia, Abnormal epiphysis morphology, Dense calcifications in the ce... |
ORPHA:191 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
| Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology |
ORPHA:220386 |
| Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Aplasia/Hypoplasia of the... |
ORPHA:649 |
| Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... |
ORPHA:51608 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
| Morm Syndrome |
|
Micropenis, Abnormality of the kidney |
ORPHA:75858 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis |
OMIM:610156 |
