| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr... |
OMIM:314390 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip... |
ORPHA:166016 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... |
OMIM:227270 |
| Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Ventriculomegaly, Aganglionic megacolon, Anteverted nares, ... |
ORPHA:59315 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Abnormal heart morphology, Stillbirth, Abnormal cardiac septum... |
ORPHA:294975 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short t... |
OMIM:613390 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Omodysplasia 2 |
|
Tented upper lip vermilion, Micrognathia, Gastroesophageal reflux, Limited elbow flexion, Clinoda... |
OMIM:164745 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Urinary incontinence, Postaxial polydactyly, Single transverse palmar crease, Promine... |
OMIM:617927 |
| Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Small hand, Downturn... |
OMIM:618779 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiphysis morphology, Lower li... |
ORPHA:2310 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda... |
OMIM:300484 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Long penis, Abnormal fibula ... |
ORPHA:1988 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Bilateral cryptorchidism... |
OMIM:619859 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Prominent nose,... |
OMIM:201170 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Depressed nasal bridge, Ventricul... |
ORPHA:2256 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,... |
OMIM:300577 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Absent thumb, Esophageal atresia, Hydrocephalus, Tra... |
OMIM:300514 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,... |
OMIM:616300 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Cl... |
ORPHA:1106 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... |
OMIM:619142 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... |
ORPHA:2831 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth ph... |
OMIM:614526 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi... |
ORPHA:2863 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislo... |
ORPHA:93328 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Choanal ste... |
OMIM:101200 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, L... |
OMIM:118651 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Atrial septal defect, Microgastr... |
ORPHA:2538 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, P... |
OMIM:210600 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Nar... |
OMIM:249600 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... |
OMIM:228520 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... |
OMIM:108720 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
| Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Ventricular septal ... |
OMIM:610536 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
| Feingold Syndrome Type 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ... |
ORPHA:391641 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Absent nasal bridge, Neonatal d... |
OMIM:617925 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Esophageal... |
ORPHA:1305 |
| 3C Syndrome |
|
Hypoplasia of penis, Micrognathia, High, narrow palate, Orofacial cleft, Gastroesophageal reflux,... |
ORPHA:7 |
| Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he... |
OMIM:276950 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,... |
ORPHA:3469 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact... |
ORPHA:1788 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Fo... |
ORPHA:2879 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly |
OMIM:611638 |
| 15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Microphallus, Hypospadias, Depressed nasal bridge, Cryptorchidism, M... |
ORPHA:94065 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Abnormal palate morphology, Tetral... |
ORPHA:1381 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Ventriculomegaly, Radial bowing, Intestinal malrotation, Postaxial poly... |
OMIM:617866 |
| Acrodysostosis |
|
Micromelia, Short metatarsal, Depressed nasal ridge, Hypoplasia of the ulna, Short metacarpal, An... |
ORPHA:950 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... |
OMIM:164900 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent radius, Absent thumb, Esophag... |
OMIM:614083 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De... |
ORPHA:87 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Abnormality of the lower limb, Anal atresia |
OMIM:246000 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Atrial septal defect, Bifid nasal tip, Depressed nasal ridge, Renal hypopla... |
OMIM:616854 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly |
ORPHA:945 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93259 |
| 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 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... |
ORPHA:2491 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Abnormality of the dentition, High pa... |
ORPHA:217340 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Depressed nasal bridge, Ventricular septal defect, Missing ribs, Microgn... |
OMIM:220210 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... |
ORPHA:2878 |
| W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Depressed nasal bridge, Broad nas... |
ORPHA:2804 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Es... |
ORPHA:77298 |
| Van Bogaert-Hozay Syndrome |
|
Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth malp... |
OMIM:277150 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... |
ORPHA:2378 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
| Maternal Phenylketonuria |
|
Anteverted nares, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Eso... |
ORPHA:2209 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis o... |
ORPHA:2557 |
| Distal Deletion 10P |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the elbo... |
ORPHA:1580 |
| Trisomy 18 |
|
Holoprosencephaly, Atrial septal defect, Bilateral single transverse palmar creases, Microretrogn... |
ORPHA:3380 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93260 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, High palate, Gastroesophageal reflux, Clinoda... |
OMIM:300373 |
| Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Hypospadias, Anteverted nares, Decreased fibular diameter, Microgn... |
OMIM:616897 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... |
OMIM:602418 |
| Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... |
OMIM:229850 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno... |
OMIM:251230 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Micrognathia, Downturned corners of ... |
OMIM:615162 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Micr... |
OMIM:618142 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Accessory oral frenulum... |
OMIM:258860 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Micrognathia, Everted lower lip verm... |
ORPHA:357175 |
| Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Gastroesophageal reflux, Atrial septal d... |
OMIM:600373 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, T... |
OMIM:192350 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapu... |
ORPHA:140 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... |
ORPHA:75508 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b... |
ORPHA:90652 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Esophagea... |
ORPHA:3412 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abno... |
OMIM:258865 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Anteverted nares, Postaxial polydactyly, Micrognathia,... |
OMIM:613792 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi... |
OMIM:602471 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Anal stenosis, Ventriculomegaly, Broad hallux, Aganglionic megacolon, Tente... |
OMIM:614749 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Submucous clef... |
OMIM:222765 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Irregular capital femoral ep... |
OMIM:616716 |
| Juberg-Hayward Syndrome |
|
Wide nose, Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger mo... |
ORPHA:2319 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Primum atrial septal defect, Absent thumb |
OMIM:615272 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Unilateral renal agenesis,... |
OMIM:614900 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Long nose, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Thin lower l... |
ORPHA:363444 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis... |
ORPHA:2249 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anencephaly, Abnormal ca... |
ORPHA:1590 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Thin upper lip vermilion, Truncus arteriosus, Intestinal ... |
ORPHA:401935 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
| Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, M... |
OMIM:612651 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Polyhydramnios |
OMIM:617967 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Holoprosencephaly, Tapered finger |
OMIM:300706 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Saul-Wilson Syndrome |
|
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... |
OMIM:618150 |
| Feingold Syndrome 1 |
|
Jejunal atresia, Anteverted nares, Ventricular septal defect, Micrognathia, Tricuspid stenosis, S... |
OMIM:164280 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Gastroesophageal refl... |
OMIM:619297 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Wide ... |
OMIM:614078 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Co... |
OMIM:263750 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Hypoplasia of the odo... |
OMIM:250250 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... |
OMIM:613885 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f... |
OMIM:277170 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Micrognathia, High palate, Gastroesophageal reflux, Vesicoureteral re... |
ORPHA:2059 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Dihydropyrimidinase Deficiency |
|
Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
| Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
| Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Conical tooth, Cleft upper lip, Cutaneous syndactyly, Neural tube defect, Hypodo... |
OMIM:119580 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... |
ORPHA:1225 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
| Schisis Association |
|
Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un... |
ORPHA:63862 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Increased nuc... |
ORPHA:93274 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers... |
ORPHA:2639 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Lower limb asymmetry, Cryptorchidism, Crowded maxillary in... |
ORPHA:2063 |
| Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre... |
OMIM:114290 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Toe syndactyly, Depressed nasal bridge, Median cleft l... |
OMIM:241800 |
| Cocaine Embryofetopathy |
|
Encephalocele, Intestinal atresia, Short distal phalanx of finger |
ORPHA:1911 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Prominent nose, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Depressed nasal bri... |
OMIM:300968 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Death in infancy, Hypospadias, Clef... |
ORPHA:2008 |
| Distal Duplication 15Q |
|
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Cryptorchidism, Do... |
ORPHA:1707 |
| Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Radial club hand, Cryptorchidism, Esophageal stricture, Hydrocep... |
OMIM:617053 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... |
OMIM:619148 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Muscular ventricular s... |
OMIM:619227 |
| Non-Syndromic Posterior Hypospadias |
|
Cryptorchidism, Ventral shortening of foreskin, Esophageal atresia, Cleft palate, Urethral divert... |
ORPHA:95706 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Thin upper lip vermilion, Anteverted nares, Micrognathi... |
OMIM:619135 |
| Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, Esophageal atresia, Pulm... |
OMIM:301030 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Ventricular septal defect, Exaggerated cupid's bow, Micro... |
ORPHA:261120 |
| Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Small ... |
ORPHA:969 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Orofacial cleft, Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth |
OMIM:218650 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Sandal gap, Rhizomelia, Hypospadias, Thin upper lip vermil... |
OMIM:607143 |
| Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, Ectopic kidney, High, narrow palate, Aplasia/Hypop... |
ORPHA:96149 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Micropenis... |
OMIM:146510 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fibular diamete... |
OMIM:258315 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Short palm, Dandy-Walker malformation,... |
ORPHA:93271 |
| Renpenning Syndrome |
|
Hypospadias, Macrodontia, Prominent nose, Abnormal thumb morphology, High, narrow palate, Cleft p... |
ORPHA:3242 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Ventricular septal defect, Absent th... |
ORPHA:96097 |
| Immunodeficiency 12 |
|
Esophageal stricture, Clubbing, Cheilitis, Death in adolescence, Recurrent aphthous stomatitis |
OMIM:615468 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... |
ORPHA:1908 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Tapered finger |
OMIM:619033 |
| Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Occipital ence... |
ORPHA:887 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis, Abn... |
ORPHA:1450 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Choanal atresia, Esophageal atresia, Tracheoesophageal fi... |
ORPHA:1923 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Gastroesophageal reflux, Micropeni... |
OMIM:134780 |
| Boomerang Dysplasia |
|
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... |
OMIM:112310 |
| Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... |
OMIM:616145 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Wide nasal bridge, Anal atresia |
OMIM:309620 |
| 17P13.3 Microduplication Syndrome |
|
Hypoplasia of penis, Congenital hip dislocation, Wide nose, High palate, Narrow mouth, Clinodacty... |
ORPHA:217385 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ... |
ORPHA:79409 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Hypospadias |
ORPHA:141333 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Anteverted nares, Lower limb asymmetry... |
ORPHA:1703 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... |
ORPHA:2476 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, High, narrow palate, 2-3 toe cutaneous s... |
OMIM:600920 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... |
ORPHA:3138 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal cardiac septum morp... |
ORPHA:2370 |
| Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Func... |
ORPHA:96148 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Hydrocephalus, Bil... |
OMIM:243605 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
| Prune Belly Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficien... |
ORPHA:2970 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Anteverted nares, Depressed nasal bridge,... |
OMIM:615398 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Pa... |
OMIM:617926 |
| Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Anal atresia, Brachydactyly |
ORPHA:1436 |
| Cat-Eye Syndrome (Type I) |
|
Abnormal heart morphology, Anal atresia, Micrognathia |
DECIPHER:42 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Thi... |
OMIM:612946 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Cleft upper lip, Pre... |
OMIM:603671 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ... |
OMIM:609029 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Short palm, Micropen... |
OMIM:268310 |
| Hartsfield Syndrome |
|
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia |
ORPHA:2117 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the hum... |
ORPHA:3098 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Fused teeth, High... |
ORPHA:93932 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Cleft palate, Abnormal shoulder morphology, Ectopic anus... |
ORPHA:2345 |
| Sweeney-Cox Syndrome |
|
Micrognathia, Bilateral cryptorchidism, High palate, Gastroesophageal reflux, Short philtrum, 2-5... |
OMIM:617746 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Atrial septal defect, Tented upper lip vermilion, Depressed nasal bridge, Rocker botto... |
OMIM:612582 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... |
ORPHA:3016 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Anteriorly placed... |
OMIM:305450 |
| Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hypoplastic ilia, Abno... |
ORPHA:1860 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Gastroesophageal refl... |
ORPHA:250994 |
| X-Linked Intellectual Disability, Siderius Type |
|
Broad nasal tip, Cleft upper lip, Preaxial hand polydactyly, Cryptorchidism, Orofacial cleft, Lar... |
ORPHA:85287 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Atrial... |
OMIM:304120 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Crypto... |
OMIM:264480 |
| Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Narrow mouth, Bulbous nose, Deep philtrum, Thick lower lip ve... |
OMIM:102370 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... |
ORPHA:94066 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophageal stricture, Dilated car... |
ORPHA:89842 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Death in infancy, Proteinuria, Chronic kidney diseas... |
OMIM:208500 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Abnormality of the knee, Abnormality of the lower limb, Esophageal stricture, Abnormality of the ... |
ORPHA:158673 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Tubulointerstitial n... |
OMIM:218330 |
| 3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... |
ORPHA:2616 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Depressed nasal bridge, Single tra... |
OMIM:617425 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Microphthalmia, Agenesis of corp... |
OMIM:164180 |
| Otoonychoperoneal Syndrome |
|
Hip contracture, Hypospadias, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee f... |
OMIM:259780 |
| Cat Eye Syndrome |
|
Micrognathia, Atrial septal defect, Vesicoureteral reflux, Total anomalous pulmonary venous retur... |
OMIM:115470 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamart... |
OMIM:263520 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Pelvic kidney, Anal a... |
OMIM:617244 |
| Achondroplasia |
|
Death in infancy, Brachydactyly, Radial bowing, Short femur, Rhizomelia, Depressed nasal bridge, ... |
OMIM:100800 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glo... |
OMIM:117650 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Hydronephrosis, Anal atresia |
ORPHA:195 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Pes planus, Atrial septal defect, Arachnodactyly, Sandal gap, Hypospadias, Intes... |
OMIM:617602 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ... |
ORPHA:1837 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Palmoplantar keratoderma, Hypodontia, Dysphagia,... |
OMIM:616029 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Micrognathia, Hydrocephalus, Anorectal anomaly, Abnormalit... |
ORPHA:1834 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss... |
OMIM:210710 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia |
ORPHA:1997 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... |
ORPHA:1278 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ... |
ORPHA:96170 |
| Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Hi... |
ORPHA:314795 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Depressed nasal bridge, Short lingual ... |
OMIM:619479 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology... |
ORPHA:2908 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Oral mucosal blisters, Narrow mouth, Esophageal stricture, Dy... |
OMIM:226600 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... |
OMIM:256200 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Micrognathia, Missing ribs, ... |
ORPHA:3301 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Adducted thumb |
ORPHA:2182 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th fing... |
OMIM:614701 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
| Triploidy |
|
Finger syndactyly, Polyhydramnios, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology... |
ORPHA:3376 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial... |
OMIM:619879 |
| Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Depres... |
ORPHA:1248 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft... |
OMIM:612913 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Single transverse palmar cr... |
OMIM:613443 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Talipes, Camptodactyly of finger, Micrognathia, Abnormal palate morphology, Gas... |
ORPHA:1495 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocation, Delayed os... |
OMIM:618395 |
| Melnick-Needles Syndrome |
|
Micrognathia, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses of the phalanges of the han... |
OMIM:309350 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Anteverted nares, Broad nasal tip, Bic... |
OMIM:618529 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Neonatal death... |
OMIM:265380 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Lowe-Kohn-Cohen Syndrome |
|
Nephropathy, Anorectal anomaly, Anal atresia |
ORPHA:2408 |
| Dyskeratosis Congenita |
|
Esophageal stenosis, Malabsorption, Abnormality of the dentition, Carious teeth, Urethral stenosi... |
ORPHA:1775 |
| Mohr Syndrome |
|
Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndacty... |
OMIM:252100 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Pierpont Syndrome |
|
Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis, Prominent subcalcaneal fat... |
OMIM:602342 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Mitral valve prolapse, Azoospermia, Cubitus valgus, Short 4th... |
ORPHA:2183 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl... |
OMIM:119800 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Large hands, Everted ... |
ORPHA:1699 |
| Diastrophic Dysplasia |
|
Hip contracture, Laryngotracheal stenosis, Flattened epiphysis, Genu valgum, Ulnar deviation of f... |
OMIM:222600 |
| Hydrolethalus |
|
Anophthalmia, Micromelia, Polyhydramnios, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... |
ORPHA:2189 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect... |
OMIM:617063 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongue... |
OMIM:616546 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Short femur, Anteverted nares, Metaphyseal spurs, ... |
OMIM:618188 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Ventricular septal defect, Tracheal stenosis, Micrognathia, Preaxi... |
OMIM:236680 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Transient neph... |
ORPHA:356961 |
| Sirenomelia |
|
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... |
ORPHA:3169 |
| Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hand monodactyly, H... |
OMIM:214800 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, ... |
ORPHA:171839 |
| Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
| Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... |
OMIM:614120 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,... |
OMIM:606242 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... |
OMIM:135750 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Micropenis, Anteverted nares, Cleft soft palate, Depr... |
OMIM:616331 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Micrognathia, High palate, Gastroesophageal reflux, Atrial septal defect, V... |
OMIM:614080 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Death in infancy, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Urethrov... |
OMIM:226730 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Micrognathia, Bil... |
ORPHA:2754 |
| Clark-Baraitser Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, ... |
OMIM:617752 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral... |
OMIM:107480 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Cryptorchidism, Esophageal atresia, Anosmia, Tracheoesophageal fistula, Clef... |
ORPHA:3157 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Elbow ... |
ORPHA:93329 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Thick upper lip vermilion, Bulbous nose, Depressed nasal bridge, Anal atresia |
OMIM:227260 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
| Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Thick lower lip vermilion, Wide na... |
OMIM:618658 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:163966 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Widely-spaced maxillary central incisors, Partial duplica... |
ORPHA:363417 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Camptodactyly of finger, Holoprosencephaly, Adducted thumb |
ORPHA:2570 |
| Down Syndrome |
|
Sandal gap, Aganglionic megacolon, Bilateral single transverse palmar creases, Protruding tongue,... |
ORPHA:870 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
| Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... |
OMIM:216100 |
| Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split ... |
ORPHA:971 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, N... |
OMIM:311900 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Temple Syndrome |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Hydrocephalus,... |
OMIM:616222 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Depressed nasal ridge, Wide nasal bridge, Downturned corner... |
ORPHA:1807 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial... |
OMIM:619343 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Talipes equinovarus, Anal atresia |
OMIM:601389 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
| Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Hydrocephalus, Macro... |
ORPHA:1914 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p... |
ORPHA:210548 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp... |
ORPHA:1040 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, High palate, Widely space... |
OMIM:143095 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Postaxial hand poly... |
ORPHA:83473 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Sydney crease, Micrognathia, Oral... |
ORPHA:506358 |
| Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis |
OMIM:614464 |
| Monosomy 18P |
|
Lymphedema, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
| Infantile Sialic Acid Storage Disease |
|
Anteverted nares, Cardiomegaly, Abnormal foot morphology, Hydrocephalus, Gingival overgrowth, Nep... |
OMIM:269920 |
| Trisomy 4P |
|
Hypospadias, Camptodactyly of finger, Depressed nasal bridge, Abnormality of the dentition, Cario... |
ORPHA:1738 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor... |
ORPHA:750 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Abnormal ... |
ORPHA:93929 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... |
OMIM:155050 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
| Fanconi Anemia, Complementation Group W |
|
Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Abnormal radial ray morphology, Ventric... |
OMIM:617784 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Anteverted nar... |
OMIM:619980 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no... |
OMIM:251255 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Depressed nasal bri... |
OMIM:619736 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Pulmonic stenosis, Atrial septal defect, Abnormal 3r... |
OMIM:249670 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Limited elbow movement, Micrognathia, Abnormal foot morphology, Upper limb undergrow... |
ORPHA:94068 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ... |
OMIM:617798 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... |
OMIM:179270 |
| Metatropic Dysplasia |
|
Depressed nasal bridge, Camptodactyly of finger, Micromelia, Hydrocephalus, Cleft palate, Halberd... |
ORPHA:2635 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,... |
OMIM:300707 |
| Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hydrocephalus, Small hand, Anteverted nares |
OMIM:300884 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Hypospadias, Micrognath... |
OMIM:601390 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Ectopic kidney, Hydroceph... |
OMIM:602200 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Dextrocardia, Myel... |
ORPHA:2437 |
| Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Holoprosencephaly |
OMIM:614226 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
| Distal Duplication 18Q |
|
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Micrognathia, Cho... |
ORPHA:1716 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Micrognathia, Long nose,... |
ORPHA:52 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, High palate, Gastroesophageal reflux, Atrial septal defect, Patent fo... |
ORPHA:280633 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Gastroesophageal reflux, Short philtrum, Atrial septal de... |
OMIM:618316 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Talipes, Intestinal malrotation, Micrognathia, C... |
ORPHA:2166 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Mitral valve prolapse, S... |
OMIM:211960 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly |
ORPHA:221054 |
| Aase-Smith Syndrome |
|
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... |
ORPHA:916 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethra... |
OMIM:100100 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Pes planus, Aganglionic megacolon, Hydrocephalus, High palate, Ventriculomegaly, Dislocated radia... |
OMIM:304100 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, ... |
ORPHA:1120 |
| Fanconi Anemia, Complementation Group D1 |
|
Short thumb, Anal atresia |
OMIM:605724 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... |
OMIM:607078 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Anal atresia |
OMIM:274265 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Tracheal stenosis, Secundum atrial septal defect, Pi... |
OMIM:620183 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney disease, S... |
ORPHA:1018 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... |
ORPHA:2994 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... |
ORPHA:392 |
| Distal Monosomy 7Q36 |
|
Clinodactyly of the 5th finger, Holoprosencephaly, Symphalangism affecting the phalanges of the h... |
ORPHA:1636 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Diastema, Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb |
OMIM:179250 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru... |
OMIM:616589 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Shor... |
OMIM:618577 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Preaxial po... |
OMIM:615503 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Dextrocardia, Mala... |
ORPHA:2315 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Urethral stenosis, Palmoplantar hype... |
OMIM:173650 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... |
OMIM:101600 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mo... |
OMIM:618506 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hydrocephalus, High palate, P... |
OMIM:300558 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Anteverted nares, Cone-shaped epiphyses of the phalanges of ... |
ORPHA:420794 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Carious teeth, Cryptorchidism, Hydrocephalus, Abnormality of the elbow, Deep ph... |
ORPHA:2701 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Abnormality of t... |
ORPHA:2973 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi... |
ORPHA:166272 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... |
OMIM:614815 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Broa... |
OMIM:239300 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Microphthalmia |
OMIM:615524 |
| Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Holoprosencephaly, Short palm, Neonatal death, Patent ... |
OMIM:269860 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... |
OMIM:306955 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... |
OMIM:611134 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An... |
OMIM:211750 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Tapered finger, Cryptorchidism, Hip dysplasia, Thin vermilion bor... |
OMIM:617991 |
| Down Syndrome |
|
Short palm, Ventricular septal defect, Single transverse palmar crease, Sandal gap, Short middle ... |
OMIM:190685 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... |
OMIM:276820 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Tapered finger, Abnormality of the dentition, Thick lower lip vermilion, Abnormal he... |
ORPHA:261652 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Decreased CSF copper concentration, Cardiomegaly, Glandular hypospadias, Increased C... |
OMIM:620306 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Abnormal preputium morphology, Prominent nose, Bulbous nose, Choroid plexus cy... |
ORPHA:293725 |
| Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Complete atrioventricular can... |
ORPHA:476126 |
| Ulbright-Hodes Syndrome |
|
Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Depressed nas... |
ORPHA:3404 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Micrognathia, Open m... |
OMIM:613604 |
| Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Anteverted nares, Truncus arteriosus, Ventricular septa... |
OMIM:615583 |
| Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Op... |
OMIM:147800 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, C... |
ORPHA:1865 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Abnormal nasal morpholo... |
ORPHA:245 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Depressed nasal bridge, Ulnar b... |
OMIM:620076 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce... |
OMIM:613330 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Abnormality of the dentition, Esophageal stricture, Dilated cardiomyopathy, P... |
OMIM:613989 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Pes planus, Bulbous nose, Talipes equinovarus, Dysphagia, Anal atresia |
OMIM:617695 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Miss... |
ORPHA:3186 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Missing ribs, Ectopic kidney, Cryptorchidism, Abnormal... |
ORPHA:3027 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Atrial septal d... |
OMIM:268300 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Spina... |
ORPHA:1327 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Meningocele, C... |
ORPHA:1827 |
| Bnar Syndrome |
|
Anal stenosis, Short lingual frenulum, Abnormal fifth toe morphology, Anteriorly placed anus, Bif... |
ORPHA:217266 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathia, Abnormality of the elbow, Fla... |
ORPHA:163649 |
| Peho-Like Syndrome |
|
Open mouth, Short nose, Ventriculomegaly, Tapered finger |
OMIM:617507 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Mitral atresia, Ectopic kidney, Bu... |
ORPHA:140952 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Promi... |
OMIM:618494 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Al... |
OMIM:612938 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... |
OMIM:607361 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse... |
ORPHA:404440 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
| Agnathia-Otocephaly Complex |
|
Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Holoprosencephaly, Agenesi... |
OMIM:202650 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone... |
OMIM:618961 |
| Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Pyloric stenosis, Ne... |
OMIM:613848 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Sandal gap, Anteverted nares, Dental crowding, Short ... |
OMIM:617877 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Proximal placement of thumb, Alobar holoprosencephaly |
OMIM:615433 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Anteverted nares, Proximal placement of thumb, Micrognathia, Depressed n... |
OMIM:217980 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Complete atrioventricular canal def... |
OMIM:611174 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, Ve... |
ORPHA:444077 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, High palate, Everted lower lip vermilion, S... |
ORPHA:1695 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Lobulated tongue, Dandy-Walker malformation, Syndactyly, C... |
OMIM:249000 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Depressed... |
OMIM:300863 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture, Anteriorly pl... |
OMIM:606170 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Iliac crest serration, Anteverted nares, Micromelia, Depressed nasal... |
OMIM:613320 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Depressed nasal bri... |
OMIM:300990 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Holoprosencephaly, Microphth... |
OMIM:147250 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
| Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Cli... |
OMIM:615984 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Preaxial hand polydactyly, Non-midl... |
ORPHA:2549 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... |
OMIM:253800 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Ventricular septal defect, Bulbous nose, Tracheoes... |
ORPHA:1780 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Micrognathia |
ORPHA:1538 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Micropenis, Cleft palate... |
OMIM:248340 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Post... |
OMIM:614175 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Postaxial hand polydactyly, Chronic kidney disease, Hydrocephalus, Con... |
OMIM:615630 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Underdeveloped nasal alae, Micrognathia, Hydrocephalus, Wide nasal bridge, Short philtrum, Abnorm... |
ORPHA:1516 |
| Bresek Syndrome |
|
Aganglionic megacolon, Convex nasal ridge, Cryptorchidism, Postaxial hand polydactyly, Hydrocepha... |
ORPHA:85284 |
| Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Rectourethral fistula, High palate, Gastroesophageal reflux, Ves... |
OMIM:300000 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Sandal gap, Anteverted nares, High, narrow palate... |
OMIM:612863 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly... |
OMIM:614091 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, High palate, Clinodactyly of the... |
OMIM:201000 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Pes cavus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Pes planus, Coxa valga, Micrognathia, Carious teeth, Pierre-R... |
OMIM:618363 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Hydrocephalus, Po... |
OMIM:602501 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Split hand, Cleft palate... |
ORPHA:2145 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Prominent nose, Downturned corners of mouth, Short philtrum, Dysphagia, Acha... |
OMIM:615510 |
| Imagawa-Matsumoto Syndrome |
|
Wide nasal ridge, Cryptorchidism, Anteriorly placed anus, Large hands, Camptodactyly, Umbilical h... |
OMIM:618786 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... |
ORPHA:457395 |
| Occipital Horn Syndrome |
|
Short humerus, Pes planus, Convex nasal ridge, Pelvic bone exostoses, Coxa valga, Hiatus hernia, ... |
OMIM:304150 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of ... |
ORPHA:1895 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Micrognathia, Symphalangism affecting ... |
ORPHA:2547 |
| Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly of the 5th finger, Bifid uvula |
ORPHA:254516 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... |
ORPHA:93307 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Single transverse palmar crease, Fibular aplasia |
OMIM:218550 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Oligohydramnios |
OMIM:615397 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Ventricular septal defect, Tapered finger, Bulbous... |
OMIM:613870 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Wide nose, Ventricular septal defect, Cleft palate, Extra-axial cerebrospin... |
OMIM:614261 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Sh... |
OMIM:619356 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... |
ORPHA:1832 |
| Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Prominent nose, Short metatarsal, Short philtrum, Bilateral coxa valga, Short phala... |
ORPHA:439822 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Hydroureter, Anteverted ... |
ORPHA:1458 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High palate, Atrial... |
ORPHA:480880 |
| Pelger-Huet Anomaly |
|
Depressed nasal bridge, Ventricular septal defect, Abnormality of the dentition, Upper limb under... |
OMIM:169400 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Hypospadias, Postaxial polydactyly, Lower limb asymmetry, M... |
OMIM:615761 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Absent vertebra, H... |
ORPHA:63259 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Hypospadias, Abnormal mitochondrial shape, Methylmalonic aciduria, In... |
ORPHA:17 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Cryptorchidism, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Micrognathia, Depressed nasal ridge, High palate, Short philtrum, Camptodactyly of toe, Branchial... |
ORPHA:261337 |
| Trisomy 17P |
|
Hypoplasia of penis, Micrognathia, Prominent nose, Orofacial cleft, High palate, Clinodactyly of ... |
ORPHA:261290 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic iliac wing, Micropenis, Short... |
OMIM:263650 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Pes planus, Thin upper lip vermilion, Single transverse palmar crease, Prominent nasal bridge, Mi... |
OMIM:613544 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi... |
OMIM:602080 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Fl... |
OMIM:256050 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Agenesis of corpus callosum, Holoprosencephaly, Polyhydramnios |
ORPHA:990 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Anteverted nares, Depressed nasal bridge, Prominent nose, Abnormal dental enamel morp... |
ORPHA:2180 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... |
OMIM:271530 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Short me... |
OMIM:614613 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... |
ORPHA:3265 |
| Opitz Gbbb Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Dan... |
ORPHA:2745 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Broad hallux, Single transver... |
OMIM:614105 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ... |
OMIM:224400 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| 3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow palate, Deep philtrum, Kn... |
ORPHA:435638 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Tapered finger, Bilateral cryptorchidism, High, narrow palat... |
ORPHA:485405 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Depressed nasal bridge, Short hallux, Proximal placement of... |
ORPHA:90650 |
| Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
| Stickler Syndrome Type 1 |
|
Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Long philtrum, Abnormal verte... |
ORPHA:90653 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty... |
ORPHA:2075 |
| Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Micromelia, Wide nasal bridge, Subependymal cysts, Late... |
OMIM:610015 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario... |
OMIM:617102 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
| Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, Microdontia, Oral leukoplakia |
OMIM:224230 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Anteriorly placed anus,... |
OMIM:618624 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Smooth philtrum, Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx... |
OMIM:618419 |
| 16P13.11 Microdeletion Syndrome |
|
Smooth philtrum, Atrial septal defect, Thin upper lip vermilion, Anteverted nares, Camptodactyly ... |
ORPHA:261236 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Convex nasal ridge, Micrognathia, Tibial bowing, High palate, Short philtrum, Cl... |
ORPHA:251028 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Atrial septal defect, Exagg... |
OMIM:312870 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Gen... |
OMIM:184260 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Bicuspid aortic valve, Horseshoe kidney, Low hanging columella |
OMIM:619318 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... |
OMIM:620269 |
| Hypochondroplasia |
|
Brachydactyly, Depressed nasal bridge, Aplasia/hypoplasia of the extremities, Flared metaphysis, ... |
OMIM:146000 |
| Achondroplasia |
|
Short nasal bridge, Rhizomelia, Anteverted nares, Depressed nasal bridge, Hip joint hypermobility... |
ORPHA:15 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar ... |
OMIM:618950 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Vesic... |
OMIM:616894 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis |
OMIM:276822 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Dysphagia, Neonatal ... |
OMIM:619751 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Talipes, Abnormal pericardium morphology, Ventricular septal defect, ... |
ORPHA:1335 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Hypospadias, Single transverse palmar crea... |
ORPHA:1708 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Ventricular septal defect, Unilateral renal agenesis, Postaxial polydactyly, Hy... |
OMIM:614576 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Talipes, Unilateral renal agenesis, Depressed nasal bridge, Chronic... |
OMIM:617661 |
| Immunodeficiency 23 |
|
Esophageal stricture, Membranoproliferative glomerulonephritis, High palate, Allergic rhinitis |
OMIM:615816 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... |
OMIM:305400 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Short distal phalanx of finger, Semilobar holoprosencephaly |
OMIM:601370 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Holo... |
OMIM:612530 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Deep philtrum, Tibial ... |
ORPHA:96334 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Hydrocephalus, Clinodactyly, Hydronephrosis, Abnormal palate morphology |
ORPHA:251046 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| 46,Xy Sex Reversal 4 |
|
Anteverted nares, Micrognathia, Prominent nose, Depressed nasal ridge, Cleft palate, High palate,... |
OMIM:154230 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Hypercalciuria,... |
OMIM:239000 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Perica... |
OMIM:617822 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly |
OMIM:618618 |
| Perlman Syndrome |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow palate, Open mo... |
ORPHA:2849 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Arachnodactyly, Dental crowding, Narrow mouth, Mitral valve prolapse, Long philtrum, Bilateral ta... |
OMIM:615539 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Hy... |
ORPHA:3378 |
| Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Abnormality of the dentition, Cryptorchidism, Postaxial hand polyda... |
ORPHA:1702 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Multicystic kidney dysplasia, Hydroureter, Erosion of oral mucosa, Dysuria, A... |
ORPHA:79404 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Mic... |
OMIM:114300 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, High, narrow palate, Hydrocephalus, Shoulder dislocation, Umbilical hernia, Adduc... |
ORPHA:2181 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis major... |
ORPHA:1358 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Overlapping toe, Anteverted nares, Wide nasal br... |
OMIM:619383 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Coxa valga, Holoprosencephaly, Clinodactyly of the 5th finger, Short distal phalanx of finger, Br... |
ORPHA:2163 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal mo... |
ORPHA:1307 |
| 5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Open mouth, Short philtrum, Short nose, Ventriculomegaly |
ORPHA:228384 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Hypospadias, Depressed nasal ridge, Narrow mouth, Short nose, Abnormal oral cav... |
ORPHA:1355 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia |
OMIM:616910 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilatera... |
ORPHA:508488 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti... |
OMIM:615948 |
| Miller-Dieker Syndrome |
|
Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, Nephropathy, Sho... |
ORPHA:531 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Hypoplast... |
OMIM:200600 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Talipes, Abnormal p... |
ORPHA:974 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality of the hand, Cryptorch... |
ORPHA:369891 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Pes planus, Depressed nasal bridge, Micrognathia, Hydrocephalus, Small hand, Cleft palate, Tubulo... |
ORPHA:459061 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
| Atelosteogenesis, Type Iii |
|
Radial bowing, Sandal gap, Rhizomelia, Depressed nasal bridge, Micrognathia, Tombstone-shaped pro... |
OMIM:108721 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Coxa v... |
OMIM:619833 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Radial club hand, Holoprosencephaly |
ORPHA:2165 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
| Moebius Syndrome |
|
Abnormal nasopharynx morphology, Micrognathia, High palate, Lower limb undergrowth, Micropenis, S... |
OMIM:157900 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognat... |
ORPHA:96176 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Thick nasal alae, Micrognathia, Hydrocephalus, Dysphagia, Short nose, Meckel di... |
ORPHA:163961 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas... |
OMIM:113000 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... |
OMIM:614976 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Micrognathia, Gingival overgrowth, Short upper lip, Short philtrum, Prominent fingertip pads, Ana... |
OMIM:616875 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Widely spaced teeth, Cl... |
ORPHA:709 |
| X-Linked Mandibulofacial Dysostosis |
|
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Aqueductal stenosi... |
ORPHA:3035 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pads, Atrial septal de... |
OMIM:147920 |
| Gastroschisis |
|
Intestinal atresia |
ORPHA:2368 |
| Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
| Trisomy 8P |
|
Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, N... |
ORPHA:264450 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger, Lateral ventricle dilatation, Short umbilical cord, D... |
OMIM:618367 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Micromelia,... |
OMIM:617895 |
| Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... |
OMIM:601707 |
| Renpenning Syndrome 1 |
|
Micrognathia, Narrow foot, High palate, Short philtrum, Death in childhood, Atrial septal defect,... |
OMIM:309500 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing... |
OMIM:619951 |
| Fraser Syndrome |
|
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Orofacial cleft, Urethral atresia, High pal... |
ORPHA:2052 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod... |
OMIM:617137 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Anteverted nares, Unilateral renal agenesis, Postaxial ... |
OMIM:616362 |
| Smith-Kingsmore Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Short proximal pha... |
OMIM:616638 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, Hy... |
OMIM:601355 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Downturned corners of mouth, Dandy-Walker malformati... |
OMIM:264090 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndact... |
ORPHA:2886 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Dilated fourth ventricle, Depressed nasal bridge, Postaxial hand polydactyly, ... |
OMIM:220220 |
| Jacobsen Syndrome |
|
Long hallux, Broad columella, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, M... |
ORPHA:2308 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... |
ORPHA:1329 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasal alae, Rectal a... |
OMIM:617666 |
| Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Pes planus, Short metacarpal, Depressed nasal bridge, Camptodactyly of... |
OMIM:612350 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Bulbous nose, Vesicoureteral... |
ORPHA:250989 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
| Tonne-Kalscheuer Syndrome |
|
Pes planus, Hypospadias, Prominent nasal bridge, Convex nasal ridge, Micrognathia, Prominent nose... |
OMIM:300978 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Pyloric stenos... |
ORPHA:96184 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Cryptorchidism, Thin upper lip vermilion, Anal atresia, Micrognathia |
OMIM:619243 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Finger joint hypermobil... |
OMIM:601492 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased testicular size, Anal atresia |
ORPHA:93950 |
| Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p... |
OMIM:614524 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, Ectopic k... |
OMIM:122470 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Micrognathia, Absent thumb, Aplasia... |
ORPHA:1234 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Rocker bottom fo... |
ORPHA:3078 |
| Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short p... |
ORPHA:53271 |
| 9Q21.13 Microdeletion Syndrome |
|
Talipes, Wide nasal ridge, Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morpholo... |
ORPHA:531151 |
| Schilbach-Rott Syndrome |
|
Hypospadias, Micrognathia, Prominent nose, Long nose, 2-3 toe cutaneous syndactyly, Submucous cle... |
OMIM:164220 |
| Microphthalmia, Syndromic 3 |
|
Hypospadias, Ventricular septal defect, Missing ribs, Cryptorchidism, Esophageal atresia, Micrope... |
OMIM:206900 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Depressed nasal ridge, Holoprosencephaly, Atrial septal defect, Micropenis, Atrio... |
ORPHA:672 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Hip dysplasia, Short nose |
OMIM:618379 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... |
OMIM:615994 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition |
ORPHA:1008 |
| 49,Xxxxy Syndrome |
|
Down-sloping shoulders, Coxa valga, Elbow dislocation, Pulmonary embolism, Hip dislocation, Radio... |
ORPHA:96264 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Knee flexion contracture, High palate, Short ph... |
OMIM:613776 |
| Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Tapered finger, Cryptorchid... |
OMIM:617159 |
| Buratti-Harel Syndrome |
|
Atrial septal defect, Broad hallux, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Su... |
OMIM:619314 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, High palate, Atrial septal defect, Bilateral coxa valga, Patent foram... |
OMIM:615582 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Flattened epiphy... |
OMIM:607131 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Bilateral single transverse palmar creases, Camptodactyly of finger, Promine... |
ORPHA:2083 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Polydactyly, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615993 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Micrognathia, Bulb... |
OMIM:619320 |
| Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios... |
ORPHA:65759 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Recurrent upper respiratory tract in... |
ORPHA:95430 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Choanal atresia, Unilateral renal agenesis, Micrognathia, Prominent na... |
OMIM:608572 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Hypospadias, Ventricular septal defect, Micrognathia, High palate, Transp... |
ORPHA:1913 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Crypt... |
ORPHA:163654 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... |
OMIM:615777 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Long fingers, 2-3 toe syndactyly, Wide nasal bridge, High palate, Short nose, Inc... |
OMIM:218000 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Hypospadias, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental enamel morpholog... |
ORPHA:85199 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Recurre... |
ORPHA:508542 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Mitral valve prolapse, High palate, Abnormal metacarpal morphology, ... |
ORPHA:2233 |
| Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Hydrocephalus, Horseshoe kidney, High palate, Camptodactyly, A... |
OMIM:614846 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Meningocele, Renal cys... |
ORPHA:2031 |
| Achondrogenesis Type 1A |
|
Anteverted nares, Micromelia, Micrognathia, Short foot, Short palm, Umbilical hernia, Short nose,... |
ORPHA:93299 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Bicuspid aortic valve, Cleft upper lip, Cryptorchidis... |
OMIM:243310 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Rhizo... |
ORPHA:175 |
| Smith-Magenis Syndrome |
|
Pes planus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Tented upper lip vermilion,... |
ORPHA:819 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Depressed nasal bridge, Ventricular septal defect, Rectal fi... |
ORPHA:49 |
| Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Polyhydramnios, Holoprosencephaly, Posterior pituitary agenesis, A... |
ORPHA:563612 |
| Pseudoachondroplasia |
|
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi... |
OMIM:177170 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Hypospadias, Single transverse palmar crease, Choanal atresia,... |
ORPHA:2409 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Anorectal anomaly, Gastroesophageal reflux, Short philtrum, Vesicoureteral reflux, ... |
ORPHA:567 |
| Osteoglophonic Dysplasia |
|
Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger, Pseudoarthr... |
OMIM:166250 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Large tarsal bones, Micrognathia,... |
OMIM:215150 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Pes planus, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, T... |
OMIM:619721 |
| Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Wide nasal bridge, Postaxial polydactyly |
OMIM:300804 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Open mouth, Gingi... |
ORPHA:561 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Smooth philtrum, Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High pala... |
OMIM:620156 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma... |
ORPHA:1275 |
| Diphallia |
|
Abnormality of the gastrointestinal tract, Ureteral duplication, Atrial septal defect, Rectoperin... |
ORPHA:227 |
| Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Micrognathia, Short foot, Talipes equinovarus, Long philtrum, Umbil... |
ORPHA:93298 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Single transverse palmar crease, Ventricular septal defect, Hydroc... |
OMIM:309801 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Depressed nasal bridge, Micromelia, Abnormal sacroiliac joint morphology, H... |
ORPHA:2655 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Lower limb asymmetry, Upper limb asymmetry, High palate, Polydactyly, Clinodacty... |
ORPHA:231140 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Hypoplasia of penis, Brachydactyly, Anosmia, Genu valgum, Abnormal meta... |
ORPHA:1295 |
| Ohdo Syndrome |
|
Proteinuria, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormal foo... |
OMIM:249620 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Hypospadias, Bilateral single transverse palmar creases, Ab... |
ORPHA:1786 |
| Fetal Hydantoin Syndrome |
|
Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Tri... |
ORPHA:1912 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Cryptorchidism,... |
OMIM:614732 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... |
ORPHA:2633 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Bilateral micro... |
OMIM:610828 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Situs inversus totalis, Preaxial hand poly... |
ORPHA:564 |
| Geleophysic Dysplasia 1 |
|
Short palm, Smooth philtrum, Anteverted nares, Camptodactyly of finger, Mitral stenosis, Coxa val... |
OMIM:231050 |
| Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Cleft upper lip, Hydrocephalus, Single naris, Cleft palate, Urethr... |
OMIM:273395 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hypoplasia of penis, Abnormality of the dentition, Short foot, Hip dysplasia, Tracheal stenosis, ... |
OMIM:601427 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Anal stenosis, Irregular dentition, Hypospadias, Micrognathia, Bilateral choanal atre... |
ORPHA:314679 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Rhizomelia, Hypospadias... |
OMIM:611209 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Hydr... |
ORPHA:2162 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Pes planus, Hypospadias, Prominent nasal bridge, Proximal placement of thum... |
ORPHA:251071 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega... |
OMIM:236700 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, O... |
OMIM:129900 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atresia, Short long ... |
OMIM:618845 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Bicuspid aortic v... |
OMIM:618619 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist... |
OMIM:302950 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Plantar hyperkeratosis, Selective tooth agenes... |
ORPHA:2909 |
| Trisomy 20P |
|
Micrognathia, Downturned corners of mouth, Short philtrum, Microdontia, Finger syndactyly, Hyposp... |
ORPHA:261318 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Sandal gap, Postaxial poly... |
OMIM:174300 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
| Raine Syndrome |
|
Micromelia, Micrognathia, High palate, Choanal stenosis, Neonatal death, Microdontia, Long hallux... |
OMIM:259775 |
| Oculodentodigital Dysplasia |
|
Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Anteverted nare... |
ORPHA:2710 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Short philtrum, Atrial septal defect, Micropenis, Long t... |
ORPHA:163979 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... |
ORPHA:508533 |
| Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Pyloric stenosis, Cryptorchidism, Hydrocephalus, Dental malocclusion, Slender toe... |
OMIM:310400 |
| Al-Raqad Syndrome |
|
Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Short nose, Brachydactyly |
OMIM:616459 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Pos... |
OMIM:614424 |
| Mucopolysaccharidosis Type 1 |
|
Depressed nasal bridge, Abnormal heart valve morphology, Malabsorption, Abnormal nasal morphology... |
ORPHA:579 |
| Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Hydroureter, Intestinal malr... |
OMIM:258040 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... |
OMIM:619854 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Long philtrum, Short nose, High palate, Micrognathia |
ORPHA:2598 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Talipes, Camptodactyly of finger, Anteverted nares, Choanal atresia, Cleft palate... |
ORPHA:83 |
| Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Short ribs, Short clavicl... |
OMIM:603116 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Achalasia, Depressed n... |
OMIM:616007 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... |
OMIM:614744 |
| Fried Syndrome |
|
Hydrocephalus, High palate, Short philtrum |
ORPHA:85335 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Crypt... |
ORPHA:1812 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Micrognathia, Gingival overgrowth, Short philtrum, Prominent fingertip pads, Anal atresia |
ORPHA:480898 |
| Ellis-Van Creveld Syndrome |
|
Epispadias, Hypoplastic iliac wing, Atrial septal defect, Dandy-Walker malformation, Hypospadias,... |
OMIM:225500 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh... |
OMIM:611717 |
| Arthrogryposis, Distal, Type 2A |
|
Dental crowding, Knee flexion contracture, High palate, Spina bifida occulta, Wrist flexion contr... |
OMIM:193700 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Diastema... |
OMIM:609757 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Dandy-Walker malform... |
ORPHA:438178 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Short philtrum, Microphallus, Vesicourete... |
OMIM:618454 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, ... |
OMIM:118450 |
| Diencephalic Syndrome |
|
Large hands, Long penis, Everted lower lip vermilion, Hydrocephalus |
ORPHA:1672 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Short metata... |
OMIM:271650 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Anteverted nares, Depressed nasal br... |
OMIM:257300 |
| Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... |
ORPHA:2369 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Choanal ... |
ORPHA:92050 |
| 1Q41Q42 Microdeletion Syndrome |
|
Talipes equinovarus, Holoprosencephaly |
ORPHA:250999 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Femoral bowing, Anteriorly placed anus, Gastroesophageal reflux, Choanal ste... |
ORPHA:95699 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Ulnar bowing, Humero... |
OMIM:207410 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Hypospadias, Prominent nasal bridge, Dental crowding, Oral-pharyngeal dysphagia... |
OMIM:619184 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Esophageal... |
ORPHA:36426 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Adducted thumb |
ORPHA:275543 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Microphthalmia, Hip ... |
OMIM:613884 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Abnorm... |
ORPHA:99947 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... |
ORPHA:857 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Depressed nasal bridge, Tented upper ... |
OMIM:616723 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Sandal gap, Choanal atresia, Micrognathia, Long nose, Cleft upper lip, Deep philtr... |
OMIM:251260 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Micrognathia, Cardiomegaly, Knee dislocation, Shoulder dislocation, Atrial... |
OMIM:245600 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Ectopic kidney, Hydrocephalus, Tracheoesophageal fistula... |
ORPHA:268249 |
| Craniofacioskeletal Syndrome |
|
Pes planus, Atrial septal defect, Thin upper lip vermilion, Hypospadias, Choanal atresia, Ventric... |
OMIM:300712 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hydrocephalus, Abnormal metacarpal morphology, Convex nasal ridge, Abnormal pala... |
ORPHA:93262 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, We... |
ORPHA:97360 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Dandy-Walker malform... |
ORPHA:2750 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L... |
OMIM:615866 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge,... |
OMIM:104350 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Single transverse palmar c... |
OMIM:247200 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Death in infancy, Hydrocephalus |
OMIM:129850 |
| Halperin-Birk Syndrome |
|
Hip dislocation, Colpocephaly, Perimembranous ventricular septal defect, Talipes equinovarus, Umb... |
OMIM:618651 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Patellar aplasia, S... |
OMIM:613805 |
| Intellectual Disability-Strabismus Syndrome |
|
Micrognathia, Prominent nose, High palate, Gastroesophageal reflux, Atrial septal defect, Micrope... |
ORPHA:363528 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow pala... |
ORPHA:3015 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Smooth philtrum, Cleft soft palate, Intestinal malrotation, Convex nasal ridge, Hydrocephalus, Re... |
OMIM:619321 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Bicuspid aortic valve, Ventricu... |
ORPHA:284169 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve... |
ORPHA:95494 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Single transverse palmar crease, Broad nasal tip, Open mouth, Recurrent upper respiratory tract i... |
ORPHA:391372 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Long philtrum, Atrial septal defect, Short nose, Tetralogy o... |
OMIM:300887 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo... |
ORPHA:1200 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Postaxial polydactyly |
OMIM:615985 |
| 1Q44 Microdeletion Syndrome |
|
Smooth philtrum, Exaggerated cupid's bow, Intestinal malrotation, Micrognathia, Hydrocephalus, Ho... |
ORPHA:238769 |
| Occipital Horn Syndrome |
|
High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, Large iliac w... |
ORPHA:198 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humeru... |
ORPHA:1794 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Aganglionic megacolon, Anteverted nares, Prominent nasal brid... |
ORPHA:220497 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... |
ORPHA:63260 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly |
OMIM:615633 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal bridge, Wide mouth, Bilateral talipes equinovarus, Wide nasal base |
OMIM:616521 |
| Microform Holoprosencephaly |
|
Panhypopituitarism, Tetralogy of Fallot, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:280200 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... |
ORPHA:93351 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Absent thumb, Short thumb, Patent foramen ovale,... |
OMIM:609053 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal epiphysis morphology, Functional abnormality of the gastrointestinal trac... |
ORPHA:2770 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Polydactyly, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,... |
OMIM:164200 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru... |
ORPHA:251038 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
| Desmosterolosis |
|
Depressed nasal bridge, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Intestinal malrot... |
ORPHA:35107 |
| Albers-Schönberg Osteopetrosis |
|
Abnormality of the dentition, Carious teeth, Hydrocephalus, Genu valgum, Abnormal epiphysis morph... |
ORPHA:53 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Dextrocardia, Hyd... |
ORPHA:220493 |
| Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Abnormal foot morphology, Gastroesophageal reflux, Prominent nasal tip,... |
OMIM:618218 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, Allergic rhinitis, Hydrocephalus,... |
OMIM:618162 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, U-Shaped upper lip vermilion, Ventriculomegaly, Anteverted nares, Prominent nasal ... |
OMIM:605627 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Functional abnormality of the bladder, High palate, Microretrognathia, ... |
ORPHA:2953 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Gastroesophageal reflux, Vesicoureteral re... |
OMIM:616580 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Camptodactyly of finger |
ORPHA:1759 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Choanal atresia, Cleft palate, Rectovaginal fistula... |
OMIM:270420 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Anteverted nares, Unilateral renal agenesis, Postaxial ha... |
OMIM:216360 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Genu valgum, Downturned corners of mouth, Thin vermilion border, Short philt... |
ORPHA:2983 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... |
ORPHA:1836 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
| Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Situs inversus to... |
ORPHA:475 |
| Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Flared metaphysis, Slender long bone, Micropenis, Ankyloglossia,... |
OMIM:602361 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic vertebral bodies, Short palm, Short ... |
OMIM:101800 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Anteverted n... |
ORPHA:1427 |
| Hurler Syndrome |
|
Metaphyseal widening, Endocardial fibroelastosis, Microdontia, Hypoplasia of the femoral head, An... |
OMIM:607014 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
| Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Wide penis, Hypoplastic vertebral bodies, Downturned c... |
ORPHA:3455 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormal heart morp... |
OMIM:601499 |
| Trigonocephaly 1 |
|
High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum |
OMIM:190440 |
| Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Short metacarpal, Scapular winging, Anteve... |
OMIM:272460 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Depressed nasal bridge, Deep palmar crease, Thick vermilion border, Pulmoni... |
OMIM:613706 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Anteverted nares, Depressed nasal bridge, Ventricular sept... |
OMIM:145420 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Cryptorchid... |
ORPHA:178303 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr... |
ORPHA:1147 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide mouth, Gastroesophagea... |
OMIM:615419 |
| Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate, Micrognathia,... |
OMIM:606851 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of t... |
ORPHA:1647 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Tetrasomy 5P |
|
Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Long fingers, Hydrocephalus, Wide ... |
ORPHA:3309 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, 2-3 fi... |
OMIM:603467 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of te... |
OMIM:608612 |
| Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Prominent nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th f... |
ORPHA:177907 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... |
ORPHA:221120 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Micromelia, Prominent nose, Underdeveloped nasal alae, Tracheal stenosis, W... |
ORPHA:2637 |
| Congenital Vertical Talus |
|
Myelomeningocele, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Thin upper lip vermilion, Micrognathia, High palate, Short nose |
OMIM:615042 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Atrial septal defect, Polyhydramnios, Increased nuchal translucency, Abnorm... |
ORPHA:1052 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Aganglionic megacolon, Anteverted nares, Prominent nasal brid... |
ORPHA:2318 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
| Leopard Syndrome 1 |
|
Scapular winging, Limited elbow movement, Complete atrioventricular canal defect, Mitral valve pr... |
OMIM:151100 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Overlapping toe, Hypospadias, Anteverted nares, Depressed nasal bridge, Choanal atre... |
OMIM:123790 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Premature loss of teeth, Dislocate... |
OMIM:102500 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Hydrocephalus, Wide mouth, Hand polyda... |
ORPHA:60040 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Hydrocephalus, Metatarsus valgus, Microphthalmia, Agenesis of corpus callosum |
ORPHA:899 |
| Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Micrognathia, Prominent nose, Depressed nasal ridge, Downturned corners of mouth, Gastroesophagea... |
OMIM:156200 |
| Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Hydrocephalus, Bulbous nos... |
OMIM:614219 |
| Cooper-Jabs Syndrome |
|
Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ventricular... |
ORPHA:1488 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... |
ORPHA:139471 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... |
ORPHA:544254 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Anteverted nares, A... |
ORPHA:1512 |
| Recombinant 8 Syndrome |
|
Atrial septal defect, Bilateral single transverse palmar creases, Camptodactyly of finger, Anteve... |
ORPHA:96167 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial bowing... |
OMIM:608940 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Absent frontal sinuses, Widely-spaced maxillary central incisors, Gastroesophageal reflux, Microp... |
OMIM:301040 |
| Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hydrocephalus, Macular hypoplasia, Holoprosencep... |
OMIM:147791 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:457279 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Esophageal varix, Pulmonic stenosis, Right ventricular hypertrophy, Um... |
OMIM:616028 |
| Fraser Syndrome 3 |
|
Tracheal atresia, Hypoplasia of penis, Wide nose, Micrognathia, Short toe, Hydrocephalus, Cutaneo... |
OMIM:617667 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Single transverse palmar crease, Supernumerary tooth, Submucous cleft har... |
OMIM:617412 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Tapered finger, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose... |
OMIM:615803 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Atrial situs ambiguous, Intestinal malrotation, Abnormal atrial arrangement, Sit... |
ORPHA:244 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, High i... |
ORPHA:2780 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Polyhydramnios, Holoprosencephaly, Atrial septal defect, Atrioventri... |
ORPHA:818 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w... |
OMIM:617809 |
| Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Abnormal small intes... |
ORPHA:90291 |
| Malan Syndrome |
|
Coxa valga, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advance... |
OMIM:614753 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial ... |
OMIM:619895 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... |
ORPHA:233 |
| Trisomy 10P |
|
Micrognathia, Orofacial cleft, High palate, Gastroesophageal reflux, Abnormal hip joint morpholog... |
ORPHA:171929 |
| Larsen Syndrome |
|
Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta, Hypoplastic cervi... |
OMIM:150250 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Wide nose, Anteverted nares, Postaxial polydactyly, Cryptorchidism, Wi... |
OMIM:619185 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Organic aciduria, Ventriculomegaly |
ORPHA:99742 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect, Broad thumb, 2-3 toe cutaneous syndactyly |
OMIM:617364 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth... |
OMIM:620250 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Calcaneal epiphyseal stippling, Thick nasal alae, Ventricular septal defect... |
ORPHA:79345 |
| Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Micrognathia, Cryptorchidism, Hydrocephalus, Cle... |
ORPHA:1926 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... |
OMIM:301043 |
| Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Anteverted nares, Abnormal morphology of ulna, Depress... |
ORPHA:1340 |
| 3Q29 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Dental crowding, Tapered finger, Abnormality of the dentitio... |
ORPHA:65286 |
| Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Pyloric stenosis, Hydrocephalus, Open mouth, Ventriculomegaly |
OMIM:616355 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Edema, Hydrocephalus, Abnormal heart morphology, Telangiec... |
ORPHA:93400 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
| Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, Cleft palate, H... |
ORPHA:2316 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cl... |
OMIM:618571 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyl... |
ORPHA:397590 |
| Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar... |
OMIM:109400 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5... |
ORPHA:391408 |
| Kaufman Oculocerebrofacial Syndrome |
|
Smooth philtrum, Atrial septal defect, Thin upper lip vermilion, Congenital hip dislocation, Long... |
OMIM:244450 |
| Gorlin Syndrome |
|
Arachnodactyly, Palmar pits, Cryptorchidism, Hydrocephalus, Plantar pits, Carious teeth, Wide nas... |
ORPHA:377 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Thin vermilion border, Anteverted nares |
ORPHA:1532 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Preaxial hand polydactyly, Cleft palate, Atrial septal def... |
ORPHA:79113 |
| Stickler Syndrome, Type I |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Irregular femoral epiphys... |
OMIM:108300 |
| Tetrasomy 18P |
|
Narrow mouth, Large hands, Thin vermilion border, Long philtrum, Achalasia, Short nose |
ORPHA:3307 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anteverted nares, Depressed nasal bridge, Hypoplasia of the odontoi... |
OMIM:258480 |
| Opsismodysplasia |
|
Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Short nose, ... |
ORPHA:2746 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio... |
OMIM:602535 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... |
OMIM:620294 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis, Short nose, Open mouth, Broad nasal tip |
OMIM:613670 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Atrioventricular canal defect, Congenitally corrected transposition of th... |
OMIM:618300 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
| Toriello-Carey Syndrome |
|
Ventriculomegaly, Aganglionic megacolon, Micrognathia, Cryptorchidism, Short nose, Cleft palate, ... |
ORPHA:3338 |
| Achondrogenesis |
|
Anteverted nares, Micromelia, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:932 |
| Ring Chromosome 7 Syndrome |
|
Single transverse palmar crease, Short philtrum, Holoprosencephaly, Clinodactyly of the 5th finge... |
ORPHA:1449 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus |
ORPHA:2866 |
| Nablus Mask-Like Facial Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Short hal... |
OMIM:608156 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Atrial septal defect, Micr... |
OMIM:613458 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Pericardial effusion, Hip dislocation, Wide mouth, Abnormal cardiac septu... |
OMIM:608776 |
| Hurler Syndrome |
|
Death in infancy, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Abnormal hea... |
ORPHA:93473 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gastroesophageal reflux, Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Tapered... |
ORPHA:268261 |
| Renal Agenesis |
|
Renal insufficiency, Proteinuria, Ventricular septal defect, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
| Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal wide... |
ORPHA:93357 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... |
OMIM:612284 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Tented upper lip vermilion, Gastroesophageal reflux, Short philtrum, Short nose, Ventriculomegaly |
ORPHA:85277 |
| Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Delayed epiphysea... |
OMIM:156550 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the thumb, Agenesis of corpus callosum, Holoprosencephaly,... |
ORPHA:556955 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... |
OMIM:300106 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Overlapping toe, Hypospadias, Anteverted nares, Micrognathia, Underdeveloped nasal alae, Cryptorc... |
OMIM:613026 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Abnormal fi... |
ORPHA:314585 |
| Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Broad nasal tip, Preaxial hand polydactyly, Deep philtrum, Non-midl... |
ORPHA:1297 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... |
ORPHA:261494 |
| Fanconi Anemia, Complementation Group P |
|
Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Bulbous nose, ... |
OMIM:613951 |
| Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Carious teeth, Cryptorchidism, Esophageal stricture, Urethral stenosis, Ho... |
OMIM:305000 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Hydrocephalus, Bulbous ... |
OMIM:612940 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t... |
OMIM:182230 |
| Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, A... |
ORPHA:2461 |
| Monosomy 18Q |
|
Abnormal palmar dermatoglyphics, Prominent nose, Bilateral cryptorchidism, Secundum atrial septal... |
ORPHA:1600 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Anteriorl... |
OMIM:615546 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Mitral r... |
OMIM:603387 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum... |
ORPHA:314655 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Smooth philtrum, Hyperextensibility of the finger joints, Edema of the dorsum of feet, Tented upp... |
ORPHA:521426 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Horsesho... |
OMIM:218350 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Tented ... |
OMIM:601803 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Hydrocephalus, Downturned corners of... |
OMIM:618590 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Metatarsus adductus... |
OMIM:227330 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Aganglionic megacolon, Tapered finger, Hydrocephalus, Wide nasal bridge, Hydro... |
OMIM:613603 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger,... |
OMIM:210720 |
| Warburg Micro Syndrome 3 |
|
Micrognathia, Short nose, Narrow palate, Ankle clonus, Downturned corners of mouth, Clinodactyly ... |
OMIM:614222 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Clinodactyly, Downturned corners of mouth, Gastroesophageal reflux, Short philtr... |
OMIM:301044 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Genu recurvatum, Downturned corners of mouth, Slender long bone, Thick vermilio... |
ORPHA:1185 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Vesicoureteral reflux, Clinodactyly... |
OMIM:618828 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaphysis, Glossoptosis, Short long ... |
ORPHA:93346 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Anteverted nares, Depressed nasal bridge, Dental crowding, Micrognathia, Underdeveloped nasal ala... |
OMIM:619005 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Short tubular bones of the hand, Abnormal foot morphology, C... |
OMIM:200610 |
| Xylt1-Cdg |
|
Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion border,... |
ORPHA:370930 |
| Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... |
OMIM:601358 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Hepat... |
ORPHA:373 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, High, narrow palate, Abnormality of th... |
ORPHA:3107 |
| Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Hypospadias, Cryptorchidism, Epispadias, Submucous clef... |
ORPHA:2588 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Gastroesophageal reflux, Widely spaced teeth... |
OMIM:615873 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Narrow palate, Femoral b... |
OMIM:617022 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, Thick ... |
OMIM:303600 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia,... |
OMIM:243150 |
| Elsahy-Waters Syndrome |
|
Bilateral cryptorchidism, Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid... |
OMIM:211380 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
| 20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Tented phil... |
ORPHA:363659 |
| Diamond-Blackfan Anemia 1 |
|
Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal ... |
OMIM:105650 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered... |
OMIM:618430 |
| Congenital Hydrocephalus |
|
Bulbous nose, Hydrocephalus, Abnormal heart morphology, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Epispadias, High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalange... |
ORPHA:2658 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Prominent nasal bridge, Micrognathia, Asymmetry of the mouth, Long... |
ORPHA:401973 |
| Zttk Syndrome |
|
Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Ventricular septal defect, Abnormali... |
OMIM:617140 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Hydrocephalus, Alveolar rid... |
OMIM:602398 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micromelia, Micrognathia, Downturned corners of... |
ORPHA:199 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Micrognathia, Cleft upper lip, Cryptorchidism, Meningo... |
OMIM:236670 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence... |
ORPHA:955 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Hypoplastic ischia,... |
OMIM:151210 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Distal Deletion 9P |
|
Hypospadias, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, ... |
ORPHA:1642 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Smooth philtrum, Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long ph... |
OMIM:616430 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Abnormal cardiac septum morphology, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
| Lathosterolosis |
|
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Talipes, Micrognathia, Postaxial hand poly... |
ORPHA:46059 |
| Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis |
OMIM:148800 |
| Mend Syndrome |
|
Microretrognathia, Smooth philtrum, Overlapping toe, Broad hallux, Prominent nasal bridge, Microg... |
OMIM:300960 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ala... |
OMIM:616835 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi... |
OMIM:600383 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Anteverted nares, Aplastic c... |
ORPHA:50945 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... |
ORPHA:1587 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Depressed nasal bridge, Microg... |
OMIM:614114 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... |
ORPHA:397715 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition... |
OMIM:271510 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... |
OMIM:611560 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Knee flexion contracture, Anteriorly place... |
OMIM:151050 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge, Micrognathia, Bulbous ... |
ORPHA:247262 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Communicating hydrocephalus |
ORPHA:1861 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short meta... |
OMIM:305600 |
| C Syndrome |
|
Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Bilateral single transvers... |
ORPHA:1308 |
| Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Hypospadias,... |
ORPHA:2322 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Ventriculomegaly, Wide nose, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Fla... |
OMIM:610442 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Urinary incontinence, Depressed nasal bridge, Hydrocephalus, Tibial bowing, Femoral b... |
OMIM:616482 |
| 19P13.13 Microdeletion Syndrome |
|
Smooth philtrum, Pes planus, Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed na... |
ORPHA:357001 |
| Alg9-Cdg |
|
Villous atrophy, Micrognathia, Right ventricular dilatation, Narrow greater sciatic notch, Gastro... |
ORPHA:79328 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:613819 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Smooth philtrum, Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognat... |
OMIM:617527 |
| Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage |
ORPHA:2356 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral... |
ORPHA:1101 |
| Neurooculorenal Syndrome |
|
Intestinal malrotation, Short hallux, Micrognathia, Unilateral renal agenesis, Cryptorchidism, Aq... |
OMIM:620305 |
| Coffin-Siris Syndrome |
|
Clinodactyly, Atrial septal defect, Hepatoblastoma, Thick nasal alae, Dandy-Walker malformation, ... |
ORPHA:1465 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Prominent nasal bridge, ... |
ORPHA:313781 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Micrognathia, Metaphyseal widening, Abnormal finger morphology, ... |
ORPHA:536471 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted... |
OMIM:612394 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Toluene Embryopathy |
|
Micrognathia, Tapered finger, Cryptorchidism, Thin vermilion border, Short nose, Hydronephrosis, ... |
ORPHA:1920 |
| Keutel Syndrome |
|
Wide nose, Depressed nasal bridge, Ventricular septal defect, Underdeveloped nasal alae, Recurren... |
ORPHA:85202 |
| Peho Syndrome |
|
Anteverted nares, Tapered finger, Open mouth, Hydrocephalus, Gingival overgrowth, Pedal edema, Ab... |
ORPHA:2836 |
| Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of the dentition, Hypoplastic... |
ORPHA:560 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Pes planus, Lateral ventricular asymmetry, Arachnodactyl... |
OMIM:616914 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Rhizomelia, Postaxial polydactyly, Tracheal stenosis, Epiphyseal stippling, Abn... |
OMIM:302960 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Wide... |
OMIM:224410 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pes planus, Arachnodactyly, Genu recurvatum, Anteverted nares, Micrognathia, Metatarsus adductus,... |
OMIM:182212 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Cleft upper lip, Short thumb, C... |
OMIM:612561 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Bilateral microphthalmos, Hypo... |
OMIM:601186 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Unilateral cryptorchidism, Depressed nasal bridge, Ventricular sep... |
OMIM:613457 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Depressed nasal br... |
OMIM:618019 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Proteinuria, Rocker bottom foot, Depressed nasal bridge, ... |
ORPHA:1272 |
| Diaphanospondylodysostosis |
|
Depressed nasal bridge, Missing ribs, Micrognathia, Depressed nasal ridge, Horseshoe kidney, Clef... |
OMIM:608022 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Extra-axial ce... |
OMIM:619179 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Gastroesophage... |
OMIM:115150 |
| Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnorma... |
ORPHA:1666 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Renal corti... |
OMIM:219730 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia... |
ORPHA:1974 |
| Distal Triplication 15Q |
|
Arachnodactyly, Micrognathia, Hydrocephalus, Horseshoe kidney, Abnormal heart morphology, Hydroce... |
ORPHA:314588 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Broad nasal tip, Submucous clef... |
OMIM:619680 |
| Aspergillosis |
|
Abnormal long bone morphology, Nasal congestion, Abnormal esophagus morphology |
ORPHA:1163 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Fla... |
ORPHA:93352 |
| Isolated Hemihyperplasia |
|
Cryptorchidism, Myelomeningocele |
ORPHA:2128 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... |
OMIM:617247 |
| Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Metatarsus adductus, Hypoplasia of the odontoid process, Heparan... |
OMIM:253220 |
| Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners... |
ORPHA:2729 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... |
OMIM:219000 |
| Currarino Syndrome |
|
Absence of the sacrum, Neurogenic bladder, Anal stenosis, Urinary incontinence, Perianal abscess,... |
OMIM:176450 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb |
OMIM:307000 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Pes cavus |
OMIM:245570 |
| Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Patent ductus arter... |
ORPHA:138 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate, Micrognathia |
OMIM:613857 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Alexander Disease |
|
Death in infancy, Hydrocephalus, Death in adolescence, Death in childhood, Increased CSF protein ... |
OMIM:203450 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
| Jeune Syndrome |
|
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd... |
ORPHA:474 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Hip dysplasia, Hypodontia, Fing... |
ORPHA:544503 |
| Congenital Contractural Arachnodactyly |
|
Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Tracheoesophageal fistula, Mitra... |
ORPHA:115 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Proteinuria, Intestinal malrotation, Umbilical... |
ORPHA:2143 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Palmoplantar cutis gyrata, Cryptorchid... |
ORPHA:1555 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Short nose,... |
OMIM:616420 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... |
OMIM:271640 |
| Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Gonadotropin deficiency, Lobar holoprosencephaly, Ectrodact... |
OMIM:615465 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Hyperphosphaturia, Choanal atresia, Micrognathia, Meta... |
OMIM:156400 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Underdeveloped nasal alae, Metaphyseal widening, Abnor... |
OMIM:263210 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Neurogenic bladder, Wide nose, Micrognathia, Protruding tongue, Secundum atrial... |
OMIM:608779 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, High... |
ORPHA:798 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Single transverse palmar crease, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, De... |
OMIM:614969 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Hip dislocation, Wide nasal bridge, Nephrocalcinosis, High palate, Limb und... |
OMIM:618005 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th finger, Atrioventricular... |
ORPHA:508498 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Neurogenic bladder, Dextrocardia, Missing ribs, Situs inversus totalis, Myelomenin... |
OMIM:613686 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Atrial septal defect, Talipes, Submucous cleft hard palate, Renal hypoplas... |
OMIM:617660 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, At... |
ORPHA:1915 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose |
ORPHA:2429 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
| Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormal parotid gland morphol... |
ORPHA:252164 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Harel-Yoon Syndrome |
|
Micrognathia, Talipes equinovalgus, Hip dysplasia, Hypertrophic cardiomyopathy, Short nose |
OMIM:617183 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Hypoplastic iliac wing, Depressed nasal bridge, Hypoplasia of the odontoid ... |
OMIM:253200 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Hepara... |
OMIM:309900 |
| Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necrosis of the capital femo... |
ORPHA:3342 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Anal stenosis, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Narrow... |
OMIM:620029 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:618174 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Hydrocephalus |
OMIM:619302 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachnodactyly, Anteverted nares, D... |
ORPHA:536467 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Rocker bottom foot, Spina bifida, Micromelia, Elbow dislocation, Campt... |
ORPHA:99776 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Clinodactyly, Oligodontia, High palate, Short philtrum, Micropenis, Hypospadias, De... |
OMIM:309590 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Depressed nasal bridge, Abn... |
OMIM:608091 |
| Peho Syndrome |
|
Tented upper lip vermilion, Edema of the dorsum of feet, Tapered finger, Short nose, Open mouth |
OMIM:260565 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Calf muscle hypertrophy, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroesophageal... |
OMIM:619950 |
| Degcags Syndrome |
|
Micrognathia, Oral-pharyngeal dysphagia, Prominent nose, Bilateral renal hypoplasia, High palate,... |
OMIM:619488 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Cleft pa... |
ORPHA:1790 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Tented upper lip vermilion, Steroid-dependent nephrotic syndrome, Urinary incontinence, Single tr... |
OMIM:300912 |
| Diamond-Blackfan Anemia |
|
Hypospadias, Cleft soft palate, Depressed nasal bridge, Micrognathia, Absent thumb, Short thumb, ... |
ORPHA:124 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Gast... |
OMIM:194190 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Short palm, Larg... |
ORPHA:2636 |
| Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, Cryptorchidism, High, narrow palate, Horseshoe kidne... |
OMIM:616368 |
| Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Mucopolysaccharidu... |
ORPHA:585 |
| Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Hypertension, Dehydration |
ORPHA:2260 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Gastroesophageal reflux, Talipes equinovarus... |
OMIM:617865 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia |
ORPHA:3004 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyly, Multicystic kidney d... |
ORPHA:2092 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Structural foot deformity, Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger, M... |
ORPHA:464306 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Short nose... |
OMIM:618460 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Gastroesophageal reflux, Shor... |
OMIM:300967 |
| Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, CSF lymphocytic pleiocytosis, Death in childhood, Convex nasal ridge, Ventriculome... |
OMIM:610333 |
| Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse, Cone-shaped... |
OMIM:614185 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Facial ... |
ORPHA:3219 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Dysphagia, Volvulus... |
OMIM:617802 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Micrognathia, Shor... |
OMIM:268400 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly ... |
ORPHA:2462 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Proteinuria, Broad nasal tip, Ventricular septal ... |
OMIM:222448 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Ventriculomegaly |
ORPHA:324416 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Avasc... |
OMIM:619377 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Anterior pituitary hypoplas... |
ORPHA:264200 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchid... |
OMIM:601353 |
| Branchioskeletogenital Syndrome |
|
Upper limb peromelia, Anteriorly placed anus, Downturned corners of mouth, Short philtrum, Premat... |
ORPHA:1299 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Aplasia of the nasal bone, Prominent nasal bridge, Micr... |
OMIM:601812 |
| Achondrogenesis Type 2 |
|
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequ... |
ORPHA:93296 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... |
ORPHA:239 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Single ventricle, Holoprosencephaly, Microphthalmia, Agenesis of corpus... |
OMIM:157170 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased C... |
OMIM:616034 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Deep philtrum, Ano... |
ORPHA:647 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Ne... |
OMIM:217090 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Pes planus, Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Protruding tongue, Malabsorption, Micrognathia, Macrogl... |
OMIM:242860 |
| Chronic Graft Versus Host Disease |
|
Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia, Hematuria, Abnormal eso... |
ORPHA:99921 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Single transverse palmar crease, Gastroesophageal reflux, Joint contracture of the 5th finger, Sh... |
ORPHA:363611 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Pes cavus, Preaxial polydactyly |
ORPHA:163681 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Gastroesophageal reflux, Mi... |
ORPHA:500055 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
| Mullegama-Klein-Martinez Syndrome |
|
Pes planus, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Prominent nose, Cleft... |
OMIM:301022 |
| Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the ... |
OMIM:300166 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Micrognathia, Cryptorchidism, Positional foot deformity, Hypertrophic cardiomyopathy, Hip dysplas... |
ORPHA:496790 |
| Fg Syndrome 5 |
|
Anteverted nares, Hypospadias, Depressed nasal bridge, Diastema, Long philtrum, Short nose |
OMIM:300581 |
| Frank-Ter Haar Syndrome |
|
Micrognathia, Secundum atrial septal defect, High palate, Short palm, Atrial septal defect, Paten... |
OMIM:249420 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... |
ORPHA:141127 |
| Bronchogenic Cyst |
|
Abnormal pericardium morphology, Abnormal stomach morphology, Dysphagia, Abnormal myocardium morp... |
ORPHA:2357 |
| Fetal Akinesia Deformation Sequence 1 |
|
Micrognathia, High, narrow palate, High palate, Wrist flexion contracture, Elbow ankylosis, Ulnar... |
OMIM:208150 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Ectop... |
ORPHA:1519 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Pes planus, Congenital hip dislocation, Anteverted nares, Carious teeth, High palate, Narrow mout... |
OMIM:219200 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Broad nasal ti... |
OMIM:619194 |
| Lumbar Syndrome |
|
Hypospadias, Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Vesicoureteral reflux,... |
ORPHA:83628 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
| Joubert Syndrome 40 |
|
Depressed nasal bridge, Postaxial polydactyly |
OMIM:619582 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary ... |
ORPHA:2363 |
| Multiple Sulfatase Deficiency |
|
Broad hallux, Anteverted nares, Hydrocephalus, Hypoplastic vertebral bodies, Mucopolysacchariduri... |
OMIM:272200 |
| Arima Syndrome |
|
Dilated fourth ventricle, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, St... |
OMIM:243910 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th finger, Atri... |
OMIM:619123 |
| Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... |
ORPHA:2876 |
| Laurence-Moon Syndrome |
|
Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Hip dislocation, Ventriculomegaly, Coxa valga |
OMIM:109120 |
| Tetrasomy 9P |
|
Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodac... |
ORPHA:3310 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Dental crowding, Talipes, Micrognathia, Achilles tendon contra... |
OMIM:620351 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tongue, Cryptorchidism, Te... |
ORPHA:96147 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Bulbous nose, Sub... |
OMIM:619103 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Depressed nasal bridge, Abnormality of the epiphysis of the femoral head, Dum... |
ORPHA:485 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Tented upper lip vermilion, Metaphyseal widening, Hydrocephalus, Bulbous nose, ... |
OMIM:618476 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Thick vermilion border, Short nose, Long philtrum |
ORPHA:833 |
| H Syndrome |
|
Hallux valgus, Pes planus, Malabsorption, Cleft upper lip, Recurrent pharyngitis, Hydrocephalus, ... |
ORPHA:168569 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Trapezoidal distal f... |
OMIM:307800 |
| Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Dental crowding, High, narrow palate, Rec... |
OMIM:309800 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Gastroesophageal reflux, Short philtrum, Clinodactyly ... |
ORPHA:79324 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Abnormal heart morphology, Anteverted nares, Protruding tongue |
DECIPHER:52 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Bulbous nose, Supernumerary tooth, Tongue nodules, Postaxial foot pol... |
OMIM:258850 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Anteverted nares, Epispadias, Abno... |
ORPHA:3339 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Persistence of primary teeth, Carious teeth, Hydrocephalus, Diaphyseal sclerosis, Genu valgum, Ch... |
OMIM:259710 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, Downturned ... |
OMIM:619522 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Atrial septal defect, Long philtrum, Microretrognathia, Arachnodactyly, Hiatus herni... |
OMIM:601776 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, High palate, Gastroesophageal reflux, Patent foramen ovale, Hypospadias, Anteverted... |
OMIM:619325 |
| Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Underdeveloped nasal alae, Cleft... |
ORPHA:894 |
| Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, M... |
OMIM:180849 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Talipes, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walk... |
OMIM:225790 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Anteriorly placed anus, Hypo... |
OMIM:618653 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small intestine, Sho... |
OMIM:200995 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, A... |
OMIM:604292 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Renal insufficiency, Bowing of the legs, Delayed ep... |
OMIM:300554 |
| Deeah Syndrome |
|
Prominent nasal tip, Death in infancy, Malabsorption, Cryptorchidism, Narrow mouth, Narrow palate... |
OMIM:619004 |
| Holoprosencephaly 4 |
|
Semilobar holoprosencephaly |
OMIM:142946 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce... |
ORPHA:77301 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Anal stenosis, Urinary incontinen... |
ORPHA:322 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia |
ORPHA:3405 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Secundum atrial se... |
OMIM:300855 |
| Diaphanospondylodysostosis |
|
Narrow pelvis bone, Myelomeningocele |
ORPHA:66637 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect, Cleft palate, Micrognathia |
OMIM:243440 |
| Lateral Meningocele Syndrome |
|
Neurogenic bladder, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Micrognath... |
OMIM:130720 |
| Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Protruding tongue, Malabsorption, Micrognath... |
ORPHA:2268 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
| Duplication Of Urethra |
|
Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Distal urethral duplication, Dysur... |
ORPHA:237 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Anteverted nares, Depressed nasal bridge, Dental crowding, Broad nasal tip, Rec... |
OMIM:617157 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ureteral stenosis, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Abnormal thumb morph... |
ORPHA:2719 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor... |
OMIM:612292 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias, Depressed nasal bridge, Wide nasal bridge, Everted lower lip vermilio... |
ORPHA:782 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, Single transverse palmar crease, Tapered finger, High, narrow palate, Narrow pal... |
OMIM:612949 |
| Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... |
OMIM:137550 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Agenesis of corpus callosum... |
OMIM:256520 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Knee flexion contracture, Inflammation of the large intestine, Bilateral talipes eq... |
OMIM:619708 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Atrial septal defect, Lateral ventricle dilatation, Double ... |
OMIM:619869 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement... |
OMIM:261540 |
| Rhyns Syndrome |
|
Renal insufficiency, Radial bowing, Chronic kidney disease, Short long bone, Short femoral neck, ... |
OMIM:602152 |
| Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Myelomeningocele, Wid... |
OMIM:607330 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Long nose, Carious teeth, Vel... |
OMIM:613680 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
| Dermotrichic Syndrome |
|
Aminoaciduria, Short nose, Aganglionic megacolon, Depressed nasal bridge |
ORPHA:99688 |
| Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose |
OMIM:618774 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow... |
ORPHA:2554 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge... |
ORPHA:2282 |
| Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thin upper lip vermilion, Rhizomelia, Abnormality of the hand, Ta... |
ORPHA:319182 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Micrognat... |
ORPHA:90154 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Tented upper lip vermilion, Tapered toe, Shoulder flexion cont... |
OMIM:620369 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, High, narrow palate, Male urethral meatus stenosis, Microphallus, Hi... |
OMIM:613406 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Calcaneovalgus d... |
ORPHA:261537 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Caudal Duplication |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Lobar holoprosencephaly, Neonatal death, Hitchhiker thumb, Agenesis of corpus callosum, Semilobar... |
OMIM:618500 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Short nose |
OMIM:620292 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... |
ORPHA:261330 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia, Spina bifi... |
OMIM:617466 |
| Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Cardiomegaly, Metaphyseal widening, Death in childhood, Progressive alveolar ridge ... |
OMIM:252500 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Anteverted nares, Pro... |
ORPHA:1454 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Ga... |
OMIM:612289 |
| Monosomy 9P |
|
Hypospadias, Anteverted nares, Proximal placement of thumb, Micrognathia, Abnormality of the tars... |
ORPHA:261112 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Congenital hip dislocation, Exaggerated cupid's bow, Narrow nasal ridge, Mi... |
OMIM:619512 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Abnormal metaphysis morphology, Long fibula, Malabsorption |
ORPHA:935 |
| Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Death in ch... |
OMIM:243800 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Adducted thumb, Long philtrum, Short nose, Bilateral single transve... |
ORPHA:50810 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, 4-5 finger syndactyly, Bi... |
ORPHA:468631 |
| Hurler-Scheie Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Heparan sulfate excretion in urine... |
OMIM:607015 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Gingival overgrowth, Hypoplastic vertebral bodies, Macro... |
ORPHA:79255 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Gastrointestinal... |
ORPHA:2152 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microphthalmia, Ethmocephaly, Agenesis of corpus callosum, Single ventr... |
OMIM:236100 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Short nose |
OMIM:618087 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Orofacial cleft, High palate, Gastr... |
OMIM:607872 |
| Double Outlet Right Ventricle |
|
Depressed nasal bridge, Intestinal malrotation, Ventricular septal defect, Submucous cleft hard p... |
ORPHA:3426 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Edema, Polyhydramnios |
OMIM:616038 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Lower limb asymmetry, Avascular necrosis of the capital femoral epiphysis, Inc... |
ORPHA:93315 |
| Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Holopr... |
ORPHA:141099 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Abnormal foot morphology, Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Micrognathia, High palate, Short philtru... |
ORPHA:96121 |
| Cholesteryl Ester Storage Disease |
|
Esophageal varix |
ORPHA:75234 |
| Xp22.3 Microdeletion Syndrome |
|
Ectopic anus |
ORPHA:1643 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Pes planus, Wide nose, Overlapping toe, Anteverted nares... |
OMIM:213980 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:618820 |
| Alg3-Cdg |
|
Neural tube defect, Abnormal limb bone morphology, Metaphyseal chondrodysplasia, Cardiomyopathy |
ORPHA:79321 |
| Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Micromelia, Situs inver... |
ORPHA:289 |
| Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Cardiomegaly... |
OMIM:608013 |
| Glycogen Storage Disease Iv |
|
Cardiomyopathy, Esophageal varix, Tubulointerstitial fibrosis |
OMIM:232500 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolap... |
ORPHA:2556 |
| White-Kernohan Syndrome |
|
Thin upper lip vermilion, Hydroureter, Anteverted nares, Depressed nasal bridge, Tented upper lip... |
OMIM:619426 |
| Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Ga... |
OMIM:618332 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ... |
ORPHA:666 |
| Adnp Syndrome |
|
Urinary incontinence, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger... |
ORPHA:404448 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Broad nasal tip, Submucous c... |
OMIM:618106 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
| Micro Syndrome |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, High pala... |
ORPHA:2510 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Delayed eruption of teeth, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:352665 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Abn... |
OMIM:600057 |
| Rabson-Mendenhall Syndrome |
|
Wide nose, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Dental crowding, ... |
ORPHA:769 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilat... |
OMIM:619122 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Hydrocephalus, Arachnodactyly, Abnormal hip bone morphology |
ORPHA:2720 |
| Native American Myopathy |
|
Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth, High palate, Talipes equ... |
ORPHA:168572 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
| Crouzon Syndrome |
|
Hydrocephalus, Choanal atresia, Narrow palate, Convex nasal ridge |
ORPHA:207 |
| Chromosome 3Q29 Duplication Syndrome |
|
Pes planus, Bulbous nose, Wide nasal bridge, Multiple palmar creases, Short nose |
OMIM:611936 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Neu-Laxova Syndrome |
|
Ventriculomegaly, Abnormality of the philtrum, Micromelia, Micrognathia, Spina bifida, Submucous ... |
ORPHA:2671 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Depressed nasal bridge, Underdeveloped nasal alae, Conical tooth, Cleft ... |
OMIM:129400 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Depressed nasal ridge, Tetraphocomelia, Hypoplastic vertebral bodies, H... |
OMIM:215140 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Depressed nasal bridge, Postaxial polydactyly, Cryptorchidism, Proximal renal tubular acidosis, I... |
OMIM:615824 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Pes planus, Hypospadias, Single transverse palmar crease, ... |
OMIM:223370 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Carious teeth, Hydrocephalus, Flared metaphysis, Coxa vara |
OMIM:259700 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hemolytic-uremic syndrome, Hydrocephalus, Clinodactyly, Ventriculomegaly |
ORPHA:2169 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Hydrocephalus, High palate, Narrow iliac wing, Dentinogenesis imperfecta |
OMIM:616294 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Missing ribs, Urethral atresia, Short ribs, Hydronephrosis, Anal atresia |
OMIM:271520 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux... |
OMIM:613735 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Micrognathia, Cryptorchidism, Bulbous nose, Deep philtrum, Wide nasa... |
ORPHA:1237 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Concave nasal ridge, High palate, S... |
OMIM:170100 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral frenulum, Postaxi... |
OMIM:617088 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Right ventricular dilatation, High palate, ... |
OMIM:619472 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... |
ORPHA:109 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... |
OMIM:161200 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Broad thumb, Short clavicles |
ORPHA:60015 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web, Dysphagia,... |
ORPHA:54028 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia |
ORPHA:99772 |
| Holoprosencephaly 3 |
|
Holoprosencephaly |
OMIM:142945 |
| Tenorio Syndrome |
|
Wide nose, Anteverted nares, Hydrocephalus, Wide mouth, Macroglossia, Enuresis, Gastroesophageal ... |
OMIM:616260 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Prominent nose, Long nose, Bulbous nose, Depr... |
ORPHA:2769 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Cryptorchidism, Short nose, Micropenis, Clinodactyly of ... |
OMIM:614225 |
| 47,Xyy Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Finger clinodactyly, Azoospermia, Ma... |
ORPHA:8 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Downturned corners of mouth, Short philtrum, Atrial septal... |
ORPHA:280 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Bilateral single transverse palmar creas... |
OMIM:619657 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormal foot morphology, Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... |
OMIM:619562 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger |
OMIM:277450 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Cardiomegaly |
ORPHA:858 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Broad nasal tip, Micrognathia, Hydrocephalus, Wide nasal bridge, Low hanging columella |
OMIM:620157 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Vesic... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Vesic... |
ORPHA:353277 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Death in childhood, Left ventricular hypertrophy, Dandy-Walker malformation, Ventr... |
OMIM:613153 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Smooth philtrum, Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Pr... |
ORPHA:357074 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short fourth metatarsal, Single transverse palmar crease, Micrognath... |
OMIM:619841 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Palmoplantar hyperkeratosis, High palate, Short philtrum, Death in childhood, Paten... |
OMIM:619127 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridg... |
OMIM:300749 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Calcaneovalgus d... |
ORPHA:261552 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Myocarditis, Cone-shaped e... |
ORPHA:93317 |
| Radial-Renal Syndrome |
|
Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb |
OMIM:179280 |
| Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Short philtrum, Short nose, Open mouth |
OMIM:618437 |
| Mucopolysaccharidosis Type 3 |
|
Malabsorption, Avascular necrosis of the capital femoral epiphysis, Heparan sulfate excretion in ... |
ORPHA:581 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hydrocephalus, ... |
ORPHA:370959 |
| Stickler Syndrome |
|
Micrognathia, Depressed nasal ridge, Glossoptosis, Gastroesophageal reflux, Advanced eruption of ... |
ORPHA:828 |
| Braddock Syndrome |
|
Preaxial hand polydactyly, Missing ribs, Unilateral renal agenesis, Micrognathia |
ORPHA:52047 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Clinodacty... |
OMIM:616975 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Epistaxis, Hepatocellular carcinoma |
OMIM:619463 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Isotretinoin-Like Syndrome |
|
Anteverted nares, Bicuspid aortic valve, Micrognathia, Hydrocephalus, Abnormal cardiac ventricle ... |
ORPHA:2306 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Natal tooth, Hypospadias, Rocker bottom foot, Narrow nasal ridge, Micrognat... |
OMIM:275210 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis |
OMIM:615849 |
| Myhre Syndrome |
|
Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Pericardial effusion, Cryptorchidis... |
OMIM:139210 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Talipes, Abnormality of the hand, Underdeveloped nasal alae, Cryptorch... |
OMIM:192430 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia, Atrial sept... |
OMIM:613610 |
| Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Choanal atresia, Pyloric st... |
ORPHA:1199 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Tented upper lip vermilion, Dental crowding, Macroorchidism, Short nose, Open mouth |
OMIM:300143 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Dental crowding, Esophageal varix, Genu valgum, High... |
ORPHA:394 |
| Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, ... |
OMIM:609192 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Anteverted nares, Unilateral renal agenesis, Postaxial polydactyly, Hydrocephalus, ... |
ORPHA:457284 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglossia, Gastroesophageal ... |
ORPHA:261144 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short nose |
ORPHA:329178 |
| Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Micrognathia, Prominent nose, Submucous cleft hard palate, Wide nasal bridge, Car... |
OMIM:618971 |
| Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Tapered finger, Abnormality of th... |
OMIM:601088 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Prominent nasal bridge, Ankle flexion contracture, Tapered finger, Unilateral renal ... |
ORPHA:464311 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus, Hand polydactyly |
ORPHA:65285 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Meningocele, Anomalous pulmonary venous return, Umbil... |
ORPHA:2311 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes... |
OMIM:600145 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Unilateral renal agenesis,... |
ORPHA:1064 |
| Hardikar Syndrome |
|
Atrial septal defect, Renal insufficiency, Hydroureter, Ventricular septal defect, Cleft soft pal... |
OMIM:301068 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation |
ORPHA:1201 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastrointestinal dysmotility, Downturned corners of mouth, Gastroesophageal reflux, Short philtru... |
ORPHA:500150 |
| Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Ethmoidal encephalocele, Dysphagia |
ORPHA:280195 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypospadias, Wide nasal bridge, Oligodontia, Short philt... |
OMIM:180500 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete... |
ORPHA:2911 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... |
OMIM:609465 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Knee dislocation... |
OMIM:619534 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Alexander Disease Type I |
|
Hydrocephalus, Dysphagia |
ORPHA:363717 |
| Griscelli Syndrome |
|
Encephalocele, Pyloric stenosis, Hydrocephalus, Pedal edema |
ORPHA:381 |
| Floating-Harbor Syndrome |
|
Long nose, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Oligodontia, Gastroesophageal re... |
ORPHA:2044 |
| Beta-Ureidopropionase Deficiency |
|
Bladder exstrophy, Anal atresia |
OMIM:613161 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Prominent... |
ORPHA:3047 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Micrognathia, Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventricle dilatat... |
ORPHA:300570 |
| Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Thin vermilion border, High palate, Short nose, Smooth philtrum |
OMIM:601853 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, ... |
ORPHA:363958 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Pes planus, Renal insufficiency, Hypospadias, Miscarriage, Bilateral cryptorchidism, Preaxial han... |
ORPHA:96179 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Rectal prolapse, Nephroca... |
ORPHA:904 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... |
OMIM:263200 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
| Aspartylglucosaminuria |
|
Pes planus, Aspartylglucosaminuria, Abnormal morphology of ulna, Malabsorption, Abnormality of th... |
ORPHA:93 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Triangular mouth, Talipes equinovarus, Hand clenching, Short nose, Dandy-... |
OMIM:617988 |
| Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral... |
OMIM:266810 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... |
OMIM:619471 |
| Dend Syndrome |
|
Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho... |
ORPHA:79134 |
| Gapo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Thick lower lip verm... |
OMIM:230740 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
| Netherton Syndrome |
|
Villous atrophy, Allergic rhinitis, Chronic rhinitis, Recurrent infection of the gastrointestinal... |
OMIM:256500 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, High palate, Atria... |
OMIM:218040 |
| Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhyd... |
OMIM:616843 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Atrial septal defect, Microphthalmia, Pleural effusion |
ORPHA:2526 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Unilateral renal agenesis, Bulbous nose, Ebstein anomaly of the tricuspid... |
OMIM:608980 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Hip dislocation, Depressed nasal ridge, Cleft palate,... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Hip dislocation, Depressed nasal ridge, Cleft palate,... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Hip dislocation, Depressed nasal ridge, Cleft palate,... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Hip dislocation, Depressed nasal ridge, Cleft palate,... |
ORPHA:93924 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal ridge, Renal cyst, Gastroesophageal reflux, Clinodactyly of ... |
ORPHA:1606 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Micrognathia, Patent foramen ovale, Abnormal tibia morphology, Hydroce... |
ORPHA:363700 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Gastroesophageal reflux, Bilater... |
ORPHA:522077 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Short stature, Polyhydramnios, Atrial septal defect, Pulmonary arter... |
OMIM:620186 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Tooth agenesis, Short... |
OMIM:616229 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| B4Galt1-Cdg |
|
Thin upper lip vermilion, Hydrocephalus, Wide nasal bridge, Long philtrum, Dandy-Walker malformation |
ORPHA:79332 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Clinodactyly of the 5th f... |
ORPHA:1393 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Cleft palate, Broad philtrum, Wide mouth, Short nose, Ventriculomegaly |
ORPHA:1394 |
| Shprintzen Omphalocele Syndrome |
|
Flared nostrils, Wide nasal bridge, Thin vermilion border, Short columella, Anal atresia |
OMIM:182210 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Hydrocele testis, High palate, Long philtrum, Short nose |
OMIM:605309 |
| Cranioectodermal Dysplasia 3 |
|
Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Raynaud phenomenon, Hemiatrophy, Arrhythmia |
ORPHA:2874 |
| Kabuki Syndrome 2 |
|
Prominent fingertip pads, Hip dislocation, Short 5th finger, Pulmonic stenosis, Atrial septal def... |
OMIM:300867 |
| Wolman Disease |
|
Esophageal varix, Steatorrhea |
ORPHA:75233 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,... |
OMIM:610168 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart mo... |
OMIM:154500 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal thumb morphology, Metatarsus ad... |
ORPHA:500095 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short nose, Ventriculomegaly, Micrognathia |
OMIM:615851 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral... |
OMIM:194050 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Abnormal heart morphology, Nephro... |
ORPHA:505248 |
| Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mouth, Slender ... |
OMIM:612731 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Pancreatic insufficiency, combined exocrine |
|
Anal atresia |
OMIM:260450 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Cockayne Syndrome Type 1 |
|
Hypertension, Anophthalmia |
ORPHA:90321 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Micrognathia, Hydrocephalus, Flared metaphysis, Gingival overgrowth, Stillbirth, Long philtrum, H... |
OMIM:259720 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcifi... |
ORPHA:2072 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Hydrocephalus, Death in childhood, Dandy-Walker malformation, Ve... |
OMIM:614643 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Hip dislocation |
ORPHA:2003 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Depressed nasal bridge, Cryptorchidism, Urolithiasis, Hyperuric... |
OMIM:300661 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydrocephalus, Red... |
ORPHA:228308 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Polydactyly, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616307 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Erosion of oral mucosa, Foot joint contracture, Glomerul... |
ORPHA:79408 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Hydrocephalus, Wide nasal bridge, Renal tubular dysfunction, Atrial septal defect... |
OMIM:614886 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Thin upper lip vermilion, Downturned corners of mouth, Short columella, Gastroesophageal reflux, ... |
ORPHA:3164 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Cadds |
|
Short nose, Ventriculomegaly, Micrognathia |
ORPHA:369942 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Pes planus, Depressed nasal bridge, Ventricular septal defect, High, narrow palate, Hydrocephalus... |
OMIM:619575 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Pes cavus |
ORPHA:289266 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Esophageal varix |
ORPHA:367 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... |
OMIM:252160 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... |
OMIM:605275 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Hypospadias, Intestinal malrotation, Tracheoesophageal fi... |
OMIM:601346 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Cog1-Cdg |
|
Thin upper lip vermilion, Rhizomelia, Micrognathia, Coxa valga, Pierre-Robin sequence, Wide nasal... |
ORPHA:263508 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Partial duplication of thumb ph... |
OMIM:164210 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Pes planus, Arachnodactyly, Prominent nasal bridge, Large hands, Hig... |
OMIM:617011 |
| Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:615862 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Absent frontal sinuses, Absent outer dynein arms, S... |
OMIM:244400 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Abnormal nasal morphology, Anteriorly placed anus, Short upper ... |
OMIM:200110 |
| Knobloch Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Dextrocardia, Pyloric stenosis, Hydrocephalus, V... |
ORPHA:1571 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Malabsorption, Myocarditis, Hydrocephalus, Pedal edema |
ORPHA:3452 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Rickets of the lowe... |
ORPHA:289176 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... |
ORPHA:131 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Broad nasal tip, Cryptorchidism... |
OMIM:618846 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology, Tracheal atresia |
OMIM:601612 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, High palate, Short p... |
OMIM:619475 |
| Developmental And Epileptic Encephalopathy 49 |
|
Tented upper lip vermilion, Prominent nose, Hydrocephalus, Short philtrum, Everted lower lip verm... |
OMIM:617281 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Carious ... |
OMIM:604173 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Curved middle phalanx of the 4th toe, Atrioventricular canal defect, Arachnodactyly, Tricuspid va... |
ORPHA:276413 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the grea... |
OMIM:313850 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Femur fracture, Hydrocephalus, Lateral ventricle dilatation, Death in childhood |
OMIM:612301 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia, Cleft pa... |
ORPHA:2250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Vent... |
OMIM:613150 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose, Anomalous pulmonary venous return, Tetralogy o... |
ORPHA:2184 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Sandal gap, Ventricular septal defect, Broad nasal tip, Long fingers, W... |
OMIM:620330 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Colpocephaly, Atrial septal defect, Ven... |
OMIM:615219 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Mitral va... |
ORPHA:500 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Congenital pyloric atres... |
ORPHA:79403 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Micrognathia, Hydrocephalus, Microdontia, Dentinogenesis imperfecta |
OMIM:112240 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Depressed nasal bridge, Genu valgum, Oligosacchariduria, Cortical th... |
ORPHA:309282 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Anal fissure, Perianal abscess, Oral ulcer, Ulcerative colitis, Nephrotic syndrome, Crohn's disease |
OMIM:618935 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy, Endocardial fibroelastosis |
OMIM:600559 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip, Cryptorchid... |
ORPHA:495875 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Crouzon Syndrome |
|
Hydrocephalus, Deviated nasal septum, High palate, Dental crowding |
OMIM:123500 |
| Pettigrew Syndrome |
|
Prominent nose, Aqueductal stenosis, Hydrocephalus, Wide mouth, Thick vermilion border, Dandy-Wal... |
OMIM:304340 |
| Cholesteryl Ester Storage Disease |
|
Death in infancy, Esophageal varix, Steatorrhea |
OMIM:278000 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Pes planus, Cleft soft palate, Bladder diverticulum, Talipes equinovarus, Umbilical hernia |
OMIM:614557 |
| Perlman Syndrome |
|
Distal ileal atresia, Tented upper lip vermilion, Depressed nasal bridge, Renal hamartoma, Everte... |
OMIM:267000 |
| Rabin-Pappas Syndrome |
|
Broad nasal tip, Micrognathia, Hydrocephalus, Wide nasal bridge, Low hanging columella |
OMIM:620155 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Ventricular septal defect, Cryptorchidism, Mitral val... |
OMIM:609942 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:618929 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Abnormal pulmonary valve morphology, Prematu... |
ORPHA:667 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Triangular mouth, Short nose |
OMIM:601675 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus |
ORPHA:31 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... |
OMIM:613001 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Genu recurvatum, Anteverted nares, Lower limb asymmetry, Open bite, ... |
ORPHA:2969 |
| Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Renal cyst, Gastroeso... |
OMIM:113620 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Restrictive Dermopathy |
|
Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Aplasia/Hypoplasia involving the nose,... |
ORPHA:1662 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Submucous cleft hard palate, Ankle clonus, Chordee, Atrial septal defect, Talipes va... |
OMIM:618891 |
| Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, ... |
ORPHA:228123 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose |
OMIM:613038 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
| Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Anal atresia |
ORPHA:1572 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Meningocele, Hypoplast... |
ORPHA:991 |
| Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:103050 |
| Tracheobronchopathia Osteochondroplastica |
|
Tracheal stenosis, Esophagitis |
ORPHA:3348 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Femoral bowing, Anteriorly placed anus, Choanal stenosis, Micropenis, Arachnodactyly, Hypospadias... |
OMIM:201750 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Renal arter... |
OMIM:162200 |
| Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Thin long bone diaphyses, Hip dislocation, Dentinogenesis imperfecta, Thin metacar... |
OMIM:616507 |
| Distal Deletion 3P |
|
Clinodactyly of the 5th finger, Atrioventricular canal defect, Postaxial hand polydactyly |
ORPHA:1620 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno... |
OMIM:270100 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula |
ORPHA:861 |
| Jung Syndrome |
|
Tracheal stenosis, Depressed nasal bridge, Wide nasal bridge |
ORPHA:2321 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Renal insufficiency, Hepatoblastoma, Micrognathi... |
ORPHA:731 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Esophageal varix, Hepatocellular adenoma, Renal tubular acidosis, Cardiomyopathy, Myoglobinuria |
ORPHA:264580 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Pes planus, Scapular winging, Genu recurvatum, Tapered f... |
OMIM:619539 |
| Cirrhosis, Familial |
|
Esophageal varix, Increased level of L-fucose in urine |
OMIM:215600 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Pes planus, Arachnodactyly, Prominent nasal bridge, High palate, Mic... |
ORPHA:457359 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Hydrocephalus, Nephrolithiasis, Gingival overgrowth, Gingivitis, Periodontitis, D... |
ORPHA:722 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Slender nose, Proteinuria, Delayed eruption of primary teet... |
OMIM:216400 |
| Basal Cell Nevus Syndrome 2 |
|
Palmar pits, Hydrocephalus, Plantar pits |
OMIM:620343 |
| Choanal Atresia |
|
Nasal congestion, Polydactyly |
ORPHA:137914 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Hepatocellular carcinoma, Esophageal varix, Nephrolithiasis, Peda... |
OMIM:277900 |
| Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Abnormality of the hand, Metaphyseal widening, Telangiectasia, Slender long bone, H... |
OMIM:234100 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Ileal atresia |
OMIM:615351 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
| Legius Syndrome |
|
Nephrolithiasis, Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Male u... |
ORPHA:137605 |
| Aicardi Syndrome |
|
Proximal placement of thumb, Spina bifida, Partial agenesis of the corpus callosum, Lateral ventr... |
OMIM:304050 |
| Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve... |
ORPHA:580 |
| Cockayne Syndrome B |
|
Slender nose, Renal insufficiency, Proteinuria, Prominent nasal bridge, Delayed eruption of prima... |
OMIM:133540 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Hypospadias, Ventricular septal defect, Cryptor... |
OMIM:235730 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Esophageal varix, Nephrolithiasis, ... |
ORPHA:774 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Avascular necrosis of the capital femoral epiphysis, Abnormal retinal v... |
ORPHA:247691 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atres... |
ORPHA:436252 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix |
OMIM:619662 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Tapered finger, Patent ductus arteriosus, Partial agenesis of the corpus callosum, ... |
OMIM:619480 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Short nose, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
| Bladder Exstrophy |
|
Hypoplasia of penis, Intestinal malrotation, Epispadias, Abnormality of the ureter, Vesicouretera... |
ORPHA:93930 |
| Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Abnormal iliac wing morphology, Depressed nasal ridge, Short long ... |
ORPHA:3003 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pericarditis |
ORPHA:163596 |
| Tracheal Agenesis |
|
Abnormal cardiac septum morphology, Tracheal atresia |
ORPHA:3346 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Esophageal varix, Renal hypoplasia, Stage 5 chronic kidney disease, Renal... |
ORPHA:84081 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital encephaloc... |
OMIM:615287 |
| Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Bicuspid aortic valve, Hypospadias, Allergic rhinitis, Chordee, Aortic valve... |
OMIM:176690 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
| Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... |
ORPHA:26793 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Marfan Syndrome |
|
Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Congesti... |
ORPHA:558 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis |
ORPHA:2119 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Pes valgus, Dilated third ventricl... |
OMIM:613154 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... |
OMIM:619573 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrocephalus, Dilated cardiomyopathy,... |
ORPHA:79282 |
| Neurofibromatosis Type 1 |
|
Cryptorchidism, Hydrocephalus, Genu valgum, Slender long bone, Abnormal hip bone morphology, Neop... |
ORPHA:636 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation |
OMIM:231670 |
| Caroli Disease |
|
Cholangiocarcinoma, Esophageal varix, Polycystic kidney dysplasia |
ORPHA:53035 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Cry... |
ORPHA:110 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Subependymal nodules, Dys... |
ORPHA:25 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Aphthous ulcer, Dilated cardiomyopathy, Esophageal varix, Oral ulcer, Recurrent sinusitis |
OMIM:615688 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Brachydactyly |
ORPHA:168577 |
| Split Cord Malformation |
|
Pes planus, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia... |
ORPHA:573278 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Renal cyst |
ORPHA:137675 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral steno... |
OMIM:231005 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met... |
OMIM:277400 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Ketonuria, Hypospadias, Anteverted nares, Bicuspid aortic valve, Micrognathia, ... |
OMIM:220111 |
| Gaucher Disease |
|
Death in infancy, Mitral valve calcification, Proteinuria, Abnormal pericardium morphology, Abnor... |
ORPHA:355 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, High palate, Dysphagia |
ORPHA:58 |
| Medulloblastoma |
|
Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Flexion contracture of finger, Meningocele, Palmoplantar keratoderma |
ORPHA:1010 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Pendred Syndrome |
|
Tracheal stenosis, Nephropathy |
ORPHA:705 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertrophic cardiomyopathy, Esophageal varix |
ORPHA:309854 |
| Caroli Syndrome |
|
Cholangiocarcinoma, Hematemesis, Esophageal varix, Melena, Polycystic kidney dysplasia |
ORPHA:480520 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... |
ORPHA:424016 |
| Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Anal fissure, Perianal dermatitis, Recurrent gastroenteritis, Left ventricular hyper... |
ORPHA:294023 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia |
ORPHA:91348 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
| Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Esophageal varix, Abnormal urine potassium concentration, Hypernatriuria, Ste... |
ORPHA:275761 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Anteriorly placed anus, Hypopla... |
OMIM:618748 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Gingival overgrowth, Dysphagia |
ORPHA:3205 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Narrow iliac wing, Abnormal palate morp... |
ORPHA:3042 |
| 1P21.3 Microdeletion Syndrome |
|
Wide mouth, Broad nasal tip, Short nose, Micrognathia |
ORPHA:293948 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis |
OMIM:618699 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Homocystinuria, Ventriculomegaly |
ORPHA:395 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Hydrocephalus, Chylopericardium, Hematuria, ... |
ORPHA:538 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Gastroesophageal reflux, Esophageal varix, High palate, Intestinal malrotation |
OMIM:613658 |
| Knobloch Syndrome 1 |
|
Occipital encephalocele, Patent ductus arteriosus, Macular hypoplasia, Occipital meningocele, Spi... |
OMIM:267750 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Single transverse palmar crease, Ureterocele |
OMIM:614863 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Communicating hydrocephalus |
OMIM:616084 |
| Relapsing Polychondritis |
|
Abnormal endocardium morphology, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hem... |
ORPHA:728 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Clubbing, Aortopulmonary window, Abnormal heart morphology, Bacterial ... |
ORPHA:97214 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Neurogenic bladder, Hydrocephalus, Abnormal heart morphology |
ORPHA:137667 |
| Granulomatosis With Polyangiitis |
|
Tracheal stenosis, Concave nasal ridge, Nasal mucosa vasculitis, Oral ulcer |
OMIM:608710 |
| Igg4-Related Thyroid Disease |
|
Tracheal stenosis, Sialadenitis, Dysphagia |
ORPHA:64744 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Hydrocephalus, Everted lower lip vermilion, Short nasal bridge, Ventriculomegaly |
OMIM:253280 |
| Alström Syndrome |
|
Abnormality of dental color, Urinary incontinence, Functional abnormality of the bladder, Hypopla... |
ORPHA:64 |
| Meningioma |
|
Neoplasm of the tongue, Hydrocephalus, Urinary incontinence, Abnormality of the sense of smell |
ORPHA:2495 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Megacystis, Pyelonephritis, Microcolon |
OMIM:619351 |
| Craniopharyngioma |
|
Hydrocephalus, Abnormal nasal bone morphology |
ORPHA:54595 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Abnormal testis morphology, Anteverted nares, Wide nasal bridge |
ORPHA:791 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Dysphagia |
ORPHA:637 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Noncommu... |
ORPHA:805 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Polyuria, Narrow nasal ridge, Dysphagia, Narrow mouth, Short nose |
OMIM:606721 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Oral-pharyngeal dysphagia, Intestinal perforation, Oral mucos... |
ORPHA:95455 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
