| Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
| Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
| Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
| Autism, Susceptibility To, X-Linked 6 |
|
Seizure |
OMIM:300872 |
| Mental Retardation, X-Linked 88 |
|
Seizure |
OMIM:300852 |
| 15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
| Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization |
|
Seizure |
OMIM:618113 |
| Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
| Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral hypoplasia, Micrognathia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:618266 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Thick eyebrow, Malar flattening, Abnormality of the ... |
ORPHA:217340 |
| Genitopalatocardiac Syndrome |
|
Cleft upper lip, Double outlet right ventricle, Cleft palate, Micrognathia, Ventricular septal de... |
OMIM:231060 |
| Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Pierre-Robin sequence |
OMIM:261800 |
| Mental Retardation, X-Linked 91 |
|
High palate, Small hand, Macrodontia, Short 5th finger, Epicanthus, Short nose, Cubitus valgus, S... |
OMIM:300577 |
| Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Alopecia, Depressed nasal bridge, Abnormality of the dentition, Short philtrum, Ventr... |
ORPHA:1507 |
| Tetrasomy X |
|
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Abnormality of the dentition, Brachy... |
ORPHA:9 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Short neck, Abnormal vertebral morphology, Epicanthus, Short nose, An... |
ORPHA:2015 |
| Orofaciodigital Syndrome I |
|
High palate, Hydrocephalus, Sparse hair, Cleft palate, Alopecia, Hypothalamic hamartoma, Ovarian ... |
OMIM:311200 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Deeply set eye, Toe clinodactyly, Everted lower lip vermilion, Microgn... |
ORPHA:261120 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Depressed nasal rid... |
ORPHA:1240 |
| Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:172880 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Thin eyebrow, Long palpebral fissure, Broad nasal tip, Long philtrum, Tapered finger, Thick nasal... |
OMIM:618147 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... |
OMIM:601668 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Short nose, Lo... |
OMIM:616894 |
| Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Narrow mouth, Bulbous nose, Abnormality of femur morphology, Fifth m... |
ORPHA:969 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Bulbous nose, Kyphoscoliosis, Malar flattening, Depressed nasal bridge, Brachydactyl... |
OMIM:600991 |
| X-Linked Intellectual Disability, Stoll Type |
|
Clinodactyly of the 5th finger, Malar flattening, Broad nasal tip, Hypoplastic nasal bridge, Long... |
ORPHA:85326 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Dental crowding, Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Depr... |
OMIM:268310 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the palpebral fissures, Brachydactyly, Synophrys, ... |
OMIM:612001 |
| Mohr Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated tong... |
OMIM:252100 |
| Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Depressed nasal bridge, ... |
OMIM:155050 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, U-Shaped upper lip vermilion, Kyphosis, Metaphyseal dysplasia, Hyp... |
OMIM:234250 |
| Robinow Syndrome |
|
Tricuspid atresia, Triangular mouth, Broad alveolar ridges, Broad nasal tip, Depressed nasal brid... |
ORPHA:97360 |
| Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Lacrimal duct atresia, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge... |
ORPHA:1529 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Dislocated radial head, Fragmented epiphys... |
ORPHA:166016 |
| Orofaciodigital Syndrome V |
|
High palate, Cleft palate, Optic disc coloboma, Lobulated tongue, Ventricular septal defect, Down... |
OMIM:174300 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ... |
ORPHA:2831 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Tetralogy of Fallot, Postaxial hand polydactyly, Non-midline cleft lip, Agen... |
ORPHA:2919 |
| Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, D... |
OMIM:201000 |
| Trisomy 8Q |
|
High palate, Joint stiffness, Protruding ear, Bone cyst, Myelomeningocele, Hypoplasia of penis, C... |
ORPHA:1752 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Short neck, Brachydactyly, Limb undergrowth, Epicanthus, Short nose, Hyper... |
ORPHA:221054 |
| Membranous Cranial Ossification, Delayed |
|
Downslanted palpebral fissures, Depressed nasal bridge, Hypertelorism |
OMIM:155980 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate,... |
OMIM:619736 |
| Velo-Facial-Skeletal Syndrome |
|
Clinodactyly of the 5th finger, Hypertelorism, High, narrow palate, Prominent fingertip pads, Abn... |
ORPHA:3424 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Cleft ala nasi, Telecanthus, Non-midline cleft lip, Hypertelorism, Underdevel... |
ORPHA:2007 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion border, Scoliosis, Abnormal form of ... |
ORPHA:2370 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Unicoronal synostosis, Encephaloc... |
OMIM:616300 |
| Familial Intestinal Malrotation |
|
Anteverted nares, Depressed nasal bridge, Long palpebral fissure, Hypertelorism |
ORPHA:508410 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
High palate, Dental crowding, Triangular mouth, Depressed nasal bridge, Duplication of the distal... |
OMIM:180700 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cleft palate, Craniosynostosis, Broad nasal tip, Osteopenia, Shallow orbits, Ventricular septal d... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cleft palate, Craniosynostosis, Broad nasal tip, Osteopenia, Shallow orbits, Ventricular septal d... |
ORPHA:352665 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Micrognathia, Downslanted palpebral fissures, Epicanthus, Prominent nose, Hypertelor... |
OMIM:614882 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Fetal Trimethadione Syndrome |
|
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Hypospadias, Depr... |
ORPHA:1913 |
| Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
| Autosomal Dominant Robinow Syndrome |
|
Alopecia, Depressed nasal bridge, Short philtrum, Micromelia, Downslanted palpebral fissures, Sho... |
ORPHA:3107 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... |
OMIM:112700 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Smith-Lemli-Opitz Syndrome |
|
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviat... |
ORPHA:818 |
| Burn-Mckeown Syndrome |
|
Short palpebral fissure, Bilateral choanal atresia, Short nose, Abnormal palate morphology, Hyper... |
ORPHA:1200 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Thick eyebrow, Micrognathia, Preaxial hand polydactyly, Radial club hand, Brachydactyly, Broad th... |
ORPHA:1278 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Accessory oral frenulum, Upslanted palpebral fissure, Postaxial p... |
OMIM:617927 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Retrognathia, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares, Hype... |
OMIM:614069 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, 11 pairs of ribs, Downslanted palpebral fissures, Short nose, Sandal gap, Clinodacty... |
OMIM:617877 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... |
OMIM:613091 |
| Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2n... |
ORPHA:1388 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Overlapping toe, Narrow mouth, Clinodactyly of the 5th finger, Short palpebral fissure, Slender f... |
OMIM:617755 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... |
ORPHA:3246 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Hypertelorism, Increased intervertebral space, Depressed nasal bridg... |
OMIM:618961 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Short philtrum, Brachydactyly, Downturned corners of mouth, Down... |
OMIM:601224 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal palate morphology, Abnormal cardiac septum morphology, Narrow mouth, Depressed nasal rid... |
ORPHA:2412 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Weiss-Kruszka Syndrome |
|
Overfolded helix, Ventricular septal defect, Single transverse palmar crease, Short nose, Downsla... |
OMIM:618619 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Oligodontia, Depressed nasal bridge, Thick vermilion border, Hype... |
OMIM:617392 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Distal Monosomy 15Q |
|
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... |
ORPHA:1596 |
| Phenobarbital Embryopathy |
|
Malar flattening, Brachydactyly, Epicanthus, Abnormal nasal base, Unilateral cleft lip, Mandibula... |
ORPHA:1919 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Charlie M Syndrome |
|
Narrow mouth, Tooth agenesis, Finger syndactyly, Thin vermilion border, Micrognathia, Short philt... |
ORPHA:1406 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Lumbar hyperlordosis, Convex nasal ridge, Clinodactyly of the 5th finger, Broad nasa... |
OMIM:619451 |
| Atkin-Flaitz Syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Hypertelorism, Prominent median palatal raphe, B... |
OMIM:300431 |
| Acromicric Dysplasia |
|
Narrow mouth, Bulbous nose, Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epip... |
OMIM:102370 |
| 17P13.3 Microduplication Syndrome |
|
High palate, Narrow mouth, Clinodactyly of the 5th finger, Short neck, Congenital hip dislocation... |
ORPHA:217385 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Adducted thumb, Micrognathia, Downslanted palpebral fissures, Synophrys, Hypertelorism, Wide nasa... |
ORPHA:3207 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Aplasia/Hypoplasia of the distal phalanges of the... |
ORPHA:1248 |
| Orofaciodigital Syndrome Type 2 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Atrioventricular c... |
ORPHA:2751 |
| Ring Chromosome 8 Syndrome |
|
Deviation of finger, Epicanthus, Anteverted nares, Short nose, Abnormal palate morphology |
ORPHA:1450 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Brachydactyly, Short middle phalan... |
OMIM:615072 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge, Scoliosis, Abnormal form of the ve... |
ORPHA:40 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Short toe, Malar flattening, Upslanted palpebral fissure, Short phalanx of finger, ... |
OMIM:613458 |
| Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Depressed nasal bridg... |
ORPHA:1695 |
| Microcephaly 4, Primary, Autosomal Recessive |
|
Micrognathia, Hypertelorism, Thick eyebrow, Synophrys |
OMIM:604321 |
| Frontorhiny |
|
Congenital conductive hearing impairment, Basal encephalocele, Cleft palate, Camptodactyly of fin... |
ORPHA:391474 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
| Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Brachydactyly, Rhizom... |
ORPHA:1453 |
| Sugarman Brachydactyly |
|
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
| Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Hepati... |
ORPHA:1505 |
| Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
| Whistling Face Syndrome, Recessive Form |
|
High palate, Short neck, Ulnar deviation of finger, Trismus, Talipes equinovarus, Short palpebral... |
OMIM:277720 |
| Velofacioskeletal Syndrome |
|
High palate, Narrow palate, Hypertelorism, High, narrow palate, Prominent fingertip pads, Short t... |
OMIM:600736 |
| Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Mmep Syndrome |
|
Microcephaly, Oral cleft, Ventricular septal defect, Median cleft lip, Mandibular prognathia |
ORPHA:3434 |
| Hypochondroplasia |
|
Lumbar hyperlordosis, Malar flattening, Flared metaphysis, Brachydactyly, Genu varum, Limited elb... |
OMIM:146000 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Biconcave vertebral bodies, Mi... |
OMIM:250215 |
| Acrodysostosis |
|
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... |
ORPHA:950 |
| Steel Syndrome |
|
Dislocated radial head, Hypertelorism, Scoliosis, Wide nasal bridge |
OMIM:615155 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, D... |
ORPHA:251071 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Wide mouth, Finger syndactyly, Depressed nasal bridge, Long philtrum, Scoliosis, Abnormality of t... |
ORPHA:1825 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... |
OMIM:605282 |
| Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Broad distal... |
ORPHA:93430 |
| Orofacial Cleft 13 |
|
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate |
OMIM:613857 |
| Pierpont Syndrome |
|
Prominent fingertip pads, Broad nasal tip, Short neck, Short nose, Deeply set eye, Prominent medi... |
OMIM:602342 |
| Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior, Seizure |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior, Seizure |
OMIM:300425 |
| Autism |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Seizure |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Seizure |
OMIM:607373 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior, Seizure |
OMIM:608636 |
| Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Seizure, Focal-onset seizure |
OMIM:600513 |
| Frank-Ter Haar Syndrome |
|
Wide mouth, Gingival overgrowth, Premature loss of teeth, Kyphosis, Beaking of vertebral bodies, ... |
ORPHA:137834 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Hypotelorism, Upslanted palpebral fissure, Broad nasal tip, Short neck, Long philtru... |
OMIM:613544 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Malar flattening, Cleft palate, Camptodact... |
OMIM:300244 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, Cleft palate, Short neck, Congenital hip dislocation, Tapered finger, Si... |
OMIM:300209 |
| Hall-Riggs Syndrome |
|
Wide mouth, Platyspondyly, Wide nasal bridge, Delayed eruption of teeth, Scoliosis, Brachydactyly... |
ORPHA:2107 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Hypoplastic left heart, Upslanted palpebral fissure, Intestinal m... |
ORPHA:2001 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Kyphosis, Deeply set eye, Thick eyebrow, Everted lower lip vermilion, Short philtrum,... |
ORPHA:2429 |
| Arthrogryposis, Distal, Type 2E |
|
Narrow mouth, Micrognathia, Microcephaly, Mild microcephaly, Trismus |
OMIM:121070 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Gingival overgrowth, Triangular mouth, Abnormality of the dentition, Micrognathia, Broad nasal ti... |
OMIM:618529 |
| Nemaline Myopathy 9 |
|
High palate, Micrognathia, Cleft palate |
OMIM:615731 |
| Pfeiffer Syndrome |
|
High palate, Clinodactyly of the 5th finger, Finger syndactyly, Short philtrum, Short neck, Synos... |
ORPHA:710 |
| Clark-Baraitser syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Prominent median palatal raphe, Broad nasal tip,... |
OMIM:300602 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Cleft palate, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomel... |
OMIM:601560 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Micrognathia, Cleft palate |
ORPHA:718 |
| Clark-Baraitser Syndrome |
|
High palate, Wide mouth, Low hanging columella, Upslanted palpebral fissure, Depressed nasal brid... |
OMIM:617752 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Broad nasal tip, Cranium bifidum occultum, Hypoplasia of the maxilla, Widow'... |
OMIM:136760 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac... |
OMIM:263540 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, Abnormality of the... |
ORPHA:1106 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Hypotelorism, Malar flattening, Cone-shaped epiphysis, A... |
ORPHA:2511 |
| Periodontal Ehlers-Danlos Syndrome |
|
Gingival overgrowth, Periodontitis, Micrognathia, Agenesis of permanent teeth, Premature loss of ... |
ORPHA:75392 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Hypertelorism, Cleft palate, Abnormal vertebral segmen... |
ORPHA:90650 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Wide mouth, Gingival overgrowth, Clinodactyly of the 5th finger, Thick eyebrow, Deeply set eye, M... |
OMIM:618381 |
| Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Depressed ... |
OMIM:228560 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia |
ORPHA:2016 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Depressed nasal bri... |
ORPHA:2025 |
| Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
| Chung-Jansen Syndrome |
|
High palate, Thick eyebrow, Upslanted palpebral fissure, Thin vermilion border, Micrognathia, Sho... |
OMIM:617991 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Depressed nasal ridge, Cleft palate, Micrognathia, Tetralogy of Fallot, V... |
ORPHA:1727 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Short toe, Cleft palate, Micrognathia, Brachydactyly, Short nose, Genu valgum, Prop... |
OMIM:614078 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Bulbous nose, Deeply set eye, Micrognathia, Brachydactyly, Camptodactyly, Downslante... |
OMIM:613604 |
| Oculomaxillofacial Dysostosis |
|
Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Abnormality of the ... |
ORPHA:1794 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Malar flattening, Retrognathia, Down-sloping shoulders, Scoliosis... |
ORPHA:1390 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Wide mouth, Thick eyebrow, Upslanted palpebral fissure, Small hand, Long philtrum, Wide nasal bri... |
OMIM:614684 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Depressed nasal bridge, Short nose, Mandibular prognathia, Sacral dimple, Short dist... |
ORPHA:1327 |
| Cornelia De Lange Syndrome 2 |
|
High palate, Thick eyebrow, Small hand, Micrognathia, Short neck, Brachydactyly, Proximal placeme... |
OMIM:300590 |
| Craniodigital-Intellectual Disability Syndrome |
|
Thick eyebrow, Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Long eyelashe... |
ORPHA:1514 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Long philtrum, Short nose, Hypertelorism, Thin upper lip vermilion, Highl... |
ORPHA:438178 |
| Chst3-Related Skeletal Dysplasia |
|
Kyphoscoliosis, Sparse eyebrow, Long philtrum, Delayed eruption of teeth, Scoliosis, Abnormal for... |
ORPHA:263463 |
| Filippi Syndrome |
|
Hypodontia, Low hanging columella, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... |
OMIM:272440 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Wide mouth, Limited pronation/supination of forearm, Depressed nasal bridge, Short neck, Hypoplas... |
ORPHA:163654 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... |
ORPHA:163649 |
| Keipert Syndrome |
|
Thick upper lip vermilion, Broad distal phalanx of finger, Brachydactyly, Downturned corners of m... |
OMIM:301026 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Short 2nd fin... |
OMIM:600987 |
| Orofaciodigital Syndrome Type 14 |
|
Bulbous nose, Cleft palate, Lobulated tongue, Broad hallux, Ventricular septal defect, Dilated th... |
ORPHA:434179 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micropenis, Short ribs, Depressed nasal bridge, Micrognathia, Hypoth... |
OMIM:241800 |
| Ring Chromosome 6 Syndrome |
|
Short distal phalanx of finger, Short neck, Epicanthus, Hypertelorism, Wide nasal bridge |
ORPHA:1448 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Deeply set eye, Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly, Camptodactyly... |
OMIM:614257 |
| Codas Syndrome |
|
Coronal cleft vertebrae, Depressed nasal bridge, Congenital hip dislocation, Scoliosis, Delayed e... |
ORPHA:1458 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... |
OMIM:190351 |
| Ververi-Brady Syndrome |
|
High palate, Metaphyseal irregularity, Bulbous nose, Clinodactyly of the 5th finger, Wide mouth, ... |
OMIM:617982 |
| Wiedemann-Steiner Syndrome |
|
High palate, Abnormality of the dentition, Depressed nasal tip, Tapered finger, Downslanted palpe... |
OMIM:605130 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Cleft palate, Glossoptosis, Micrognathia, Pierre-Robin sequence |
OMIM:311895 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Wide mouth, Rhizo-meso-acromelic limb shortening, Depressed nasal bridge, Short neck, Platyspondy... |
OMIM:611717 |
| Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... |
OMIM:609052 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Long philtrum, Short nose, Microretrognathia |
OMIM:218010 |
| Temple-Baraitser Syndrome |
|
Short distal phalanx of finger, Wide mouth, Adducted thumb, Depressed nasal bridge, Long philtrum... |
OMIM:611816 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder mor... |
ORPHA:1277 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Dysplastic corpus callosum, Velopha... |
ORPHA:363444 |
| Orofaciodigital Syndrome Xiv |
|
Abnormal pinna morphology, Cleft palate, Optic disc coloboma, Lobulated tongue, Ventricular septa... |
OMIM:615948 |
| Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Bulbous nose, Deeply set eye, Thick eyebrow, Upslanted palpebral fissure, Retrognathia, Downslant... |
OMIM:615979 |
| Monosomy 5P |
|
High palate, Microretrognathia, Finger syndactyly, Small hand, Short neck, Scoliosis, Downslanted... |
ORPHA:281 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Bulbous nose, Talipes equinovarus, Macroglossia, Everted lower lip vermilion, Open mo... |
OMIM:616789 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Retrognathia, Micrognathia, Microcephaly, Bifid uvula, Mandibular prognathia, Submu... |
ORPHA:2521 |
| Chime Syndrome |
|
Sparse hair, Depressed nasal ridge, Cleft palate, Abnormality of the dentition, Short philtrum, M... |
ORPHA:3474 |
| Leri Pleonosteosis |
|
Abnormality of finger, Short palpebral fissure, Abnormally straight spine, Upslanted palpebral fi... |
ORPHA:2900 |
| Mental Retardation, Buenos Aires Type |
|
High palate, Wide mouth, Hydrocephalus, Carious teeth, Downslanted palpebral fissures, Long eyela... |
OMIM:249630 |
| Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... |
ORPHA:439822 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... |
ORPHA:1515 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Bulbous nose, Malar flattening, Depressed nasal bridge, Hemivertebrae, Wide nasal br... |
ORPHA:2180 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Cleft palate, Ventricular septal defect, Downslanted palpebral fissures, Anteriorly ... |
OMIM:619980 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Thin vermilion border, Aplasia/Hypoplasia of the eyebrow, Brachydactyly, Carious teeth, Abnormali... |
ORPHA:2701 |
| Nicolaides-Baraitser Syndrome |
|
Wide mouth, Downslanted palpebral fissures, Long eyelashes, Thick nasal alae, Sandal gap, Abnorma... |
ORPHA:3051 |
| Orofaciodigital Syndrome Iii |
|
Bulbous nose, Short sternum, Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Postaxi... |
OMIM:258850 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
High palate, Deeply set eye, Short palpebral fissure, Malar flattening, Retrognathia, Thin vermil... |
OMIM:617157 |
| Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, ... |
ORPHA:3080 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Wide mouth, Decreased palmar creases, Depressed nasal bridge, Short philtrum, Downslanted palpebr... |
OMIM:615834 |
| 3Mc Syndrome 2 |
|
Cleft palate, Craniosynostosis, Depressed nasal tip, Radioulnar synostosis, Downslanted palpebral... |
OMIM:265050 |
| Summitt Syndrome |
|
Clinodactyly of the 5th finger, Hypertelorism, Depressed nasal ridge, Camptodactyly of finger, Br... |
ORPHA:3210 |
| Diabetic Embryopathy |
|
Hydrocephalus, Renal hypoplasia/aplasia, Cleft palate, Microtia, Micropenis, Micrognathia, Aplasi... |
ORPHA:1926 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Downsla... |
OMIM:257850 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Small hand, Depressed nasal bridge, Scoliosis, Epicanthus, Short f... |
OMIM:300434 |
| Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Micrognathia, Scoliosis, Brachydactyly, Epicanthus, Synophrys, Clinodactyly, Antever... |
OMIM:617062 |
| Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Narrow mouth, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly,... |
OMIM:618435 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... |
OMIM:112800 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Abnormality of the nares, Brachydactyly, Hypoplasia of the zygoma... |
ORPHA:1295 |
| Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Downslanted palpebral fissures, Broad hallux, Short nose, San... |
OMIM:311300 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Deeply set eye, Short palpebral fissure, Upslanted palpebral fissure, Broad nasal tip, Long philt... |
OMIM:617763 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Microcephaly, Periventricular leukomalacia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Hypotelorism, Brachydactyly, Postaxial hand polydactyly, Conical ... |
OMIM:193530 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Unilateral... |
OMIM:618142 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Malar flattening, Depressed nasal bridge, Femoral bowing, Short neck, Platyspond... |
OMIM:616723 |
| Achondroplasia |
|
Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Malar flattening, Depressed... |
OMIM:100800 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Anodontia, Kyphosis, Everted lower lip vermilion, Oligodontia, Scoliosis, Tapered finger, Downsla... |
ORPHA:276630 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Short neck, Pla... |
OMIM:251450 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypertelorism, Micrognathia, Long philtrum, Scoliosis, Ulnar deviation of the wrist, Short nose, ... |
OMIM:618577 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Scolios... |
OMIM:226900 |
| Holzgreve Syndrome |
|
Joint stiffness, Renal hypoplasia/aplasia, Abnormal morphology of ulna, Aplasia/Hypoplasia of the... |
ORPHA:2167 |
| Gand Syndrome |
|
Wide mouth, Deeply set eye, Long toe, Broad nasal tip, Short philtrum, Long fingers, Narrow palpe... |
OMIM:615074 |
| Marshall-Smith Syndrome |
|
High palate, Hypertrichosis, Hydrocephalus, Short sternum, Slender finger, Prominent fingertip pa... |
OMIM:602535 |
| Gorlin Syndrome |
|
Abnormality of the sense of smell, Hemivertebrae, Vertebral fusion, Arachnodactyly, Scoliosis, Br... |
ORPHA:377 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly, ... |
ORPHA:3303 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Downslanted palpebra... |
ORPHA:3258 |
| Muenke Syndrome |
|
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Capitate-ha... |
OMIM:602849 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Long philtrum, Wide nasal bridge, Brachydactyly, Short thumb, Downslanted... |
ORPHA:401935 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Malar flattening, Ulnar deviation of the hand or of fingers of the h... |
OMIM:122880 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Clinodactyly of the 5th finger, Deeply set eye, Depressed nasal bridge, Downslanted... |
OMIM:618828 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shaped epiphysis, Platyspon... |
ORPHA:166272 |
| Viss Syndrome |
|
High palate, Chronic gastritis, Celiac disease, Tortuous cerebral arteries, Alopecia, Depressed n... |
OMIM:619472 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... |
OMIM:617102 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Cutaneous syndactyly, Single transverse palmar crease, Clinodactyly of the 5th fing... |
OMIM:236500 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed nasal bridge,... |
OMIM:616331 |
| Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... |
OMIM:226440 |
| Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... |
ORPHA:1906 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Cerebral atrophy, Malar... |
OMIM:179613 |
| Deafness-Craniofacial Syndrome |
|
Sensorineural hearing impairment, Upslanted palpebral fissure, Abnormality of the dentition, Shor... |
ORPHA:3241 |
| 2q37 monosomy |
|
Thin upper lip vermilion, Brachydactyly, Deeply set eye |
DECIPHER:44 |
| Liang-Wang Syndrome |
|
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... |
OMIM:618729 |
| 20Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly, Camptodactyly... |
ORPHA:444051 |
| Pallister W Syndrome |
|
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Broad nasal tip, Depre... |
OMIM:311450 |
| 3Q13 Microdeletion Syndrome |
|
Abnormality of the hand, Short neck, Long philtrum, Epicanthus, Anteverted nares, Hypertelorism, ... |
ORPHA:1621 |
| Mosaic Trisomy 1 |
|
Wide mouth, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, 2-3 finger syndactyl... |
ORPHA:1692 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... |
OMIM:271530 |
| Even-Plus Syndrome |
|
High palate, Epiphyseal dysplasia, Anal atresia, Dysplastic corpus callosum, Atrial septal defect... |
OMIM:616854 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Spindle-shaped finger, Triangular mouth, Cutaneous syndactyly, G... |
ORPHA:166024 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Craniosynostosis, Depressed nasal bridge, Radioulnar synostosis, Short nose, Bowin... |
ORPHA:171839 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Abnormality of the dentition, Depresse... |
ORPHA:457395 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Short neck, Gingival fibr... |
ORPHA:1832 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Wide mouth, Sparse hair, Cleft palate, Overfolded helix, Depressed nasal bridge, Short philtrum, ... |
OMIM:280000 |
| Sandestig-Stefanova Syndrome |
|
High palate, Muscular ventricular septal defect, Retrognathia, Hypoplasia of the corpus callosum,... |
OMIM:618804 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Posterior helix pit, Wide mouth, Hypertrichosis, Short sternum, Hydrocephalus, Cleft palate, Shor... |
OMIM:312870 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Abnormal social behavior |
ORPHA:436151 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Single transve... |
OMIM:206920 |
| Brachydactyly, Type A2, With Microcephaly |
|
Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Thumbs h... |
OMIM:211369 |
| Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of upper lip, Epicanthus, Short nose, Anteverted nare... |
ORPHA:531 |
| Burn-Mckeown Syndrome |
|
Cleft palate, Short philtrum, Ventricular septal defect, Mandibular prognathia, Cleft upper lip, ... |
OMIM:608572 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe |
OMIM:176305 |
| Metatropic Dysplasia |
|
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspondyly, Hyperplasia ... |
OMIM:156530 |
| Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Upslanted palpebral fissure, Depressed nasal bridge, Short philtrum, Downturned corners of mouth,... |
OMIM:613443 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Atrial septal defect, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Tetralogy of Fallot, ... |
OMIM:601322 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Hemivertebrae, Radioulnar synostosis, Single transverse palmar crease, Short nose, ... |
OMIM:614701 |
| Ruvalcaba Syndrome |
|
Kyphosis, Narrow mouth, Clinodactyly of the 5th finger, Convex nasal ridge, Thin vermilion border... |
ORPHA:3121 |
| 20P13 Microdeletion Syndrome |
|
Wide anterior fontanel, Deeply set eye, Finger syndactyly, Brachydactyly, Polydactyly, Downslante... |
ORPHA:313781 |
| Brachydactyly, Combined B And E Types |
|
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... |
OMIM:112440 |
| Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Short eyelashes, Micrognathia, Hyperplasia of the maxilla, Depre... |
OMIM:612731 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Epicanthus, Depressed nasal bridge, Hypertelorism |
OMIM:616911 |
| Lowry-Maclean Syndrome |
|
Microcephaly, Delayed eruption of teeth, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
| Microcephaly 8, Primary, Autosomal Recessive |
|
Retrognathia, Microcephaly |
OMIM:614673 |
| Rhizomelic Syndrome, Urbach Type |
|
High palate, Kyphosis, Abnormality of the tongue, Wide anterior fontanel, Short distal phalanx of... |
ORPHA:3098 |
| Trisomy 17P |
|
High palate, Wide mouth, Hydrocephalus, Cleft palate, Tapered finger, Downslanted palpebral fissu... |
ORPHA:261290 |
| Distal Monosomy 1Q |
|
Thin vermilion border, Micrognathia, Depressed nasal bridge, Epicanthus, Hypertelorism, Smooth ph... |
ORPHA:36367 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Malar flattening, Abnormal sacrum morphology, Brachydactyly, Abnormal form of... |
ORPHA:93262 |
| Pfeiffer Syndrome |
|
High palate, Humeroradial synostosis, Elbow ankylosis, Depressed nasal bridge, Shallow orbits, Sh... |
OMIM:101600 |
| Trisomy 9P |
|
Kyphosis, Clinodactyly of the 5th finger, Deeply set eye, Impacted tooth, Abnormal nasal morpholo... |
ORPHA:236 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Cleft palate, Microcephaly, Ventricular septal defect, Hydranence... |
OMIM:601355 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Ulnar devi... |
ORPHA:2496 |
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
High palate, Bulbous nose, Cleft palate, Optic atrophy, Ventricular septal defect, Open mouth, Th... |
OMIM:220500 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Bulbous nose, Wide mouth, Cleft palate, Depressed nasal bridg... |
OMIM:618454 |
| Multiple Synostoses Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Bilatera... |
ORPHA:3237 |
| Mesomelic Limb Shortening And Bowing |
|
Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Mesomelic arm shortening |
OMIM:249710 |
| Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
| Sillence Syndrome |
|
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... |
ORPHA:3168 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
High palate, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyly, Cone-shaped capi... |
OMIM:300232 |
| Fraser Syndrome |
|
High palate, Depressed nasal bridge, Cleft ala nasi, Umbilical hernia, Encephalocele, Cleft upper... |
ORPHA:2052 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... |
OMIM:618728 |
| Suleiman-El-Hattab Syndrome |
|
High palate, Wide mouth, Overfolded helix, Ventricular septal defect, Optic disc pallor, Single t... |
OMIM:618950 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Depressed nasal bridge, Micromelia, Urethrovaginal fistula, Abnormal metaphysis morphology, Cleft... |
ORPHA:93271 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... |
OMIM:220210 |
| Tetrasomy 12P |
|
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Sparse e... |
ORPHA:884 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
High palate, Epicanthus, Hypertelorism |
OMIM:613506 |
| Emery-Nelson Syndrome |
|
High palate, Metacarpophalangeal joint contracture, Depressed nasal bridge, Camptodactyly of fing... |
ORPHA:1927 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... |
OMIM:614261 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Malar flattening, Retrognathia, Broad nasal tip, Downslanted palpebral fissures, Short nose, Open... |
OMIM:613670 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Protruding ear, Abnormality of the dentition, Multicystic kidney dysplasia, Radioulnar synostosis... |
ORPHA:3270 |
| Craniofrontonasal Dysplasia |
|
High palate, Clinodactyly of the 5th finger, Finger syndactyly, Depressed nasal ridge, Abnormalit... |
ORPHA:1520 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... |
OMIM:113000 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Micrognathia, Depressed nasal tip, Camptodactyly of finger, Brachyda... |
ORPHA:2863 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Scoli... |
OMIM:618167 |
| Feingold Syndrome 2 |
|
Intestinal atresia, Short middle phalanx of the 2nd finger, Ventricular septal defect, Secondary ... |
OMIM:614326 |
| Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly |
OMIM:233270 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Hypertelorism, Bony paranasal bossing, Patchy sclerosis of finger phalanx,... |
OMIM:218400 |
| Femoral-Facial Syndrome |
|
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Long penis, Short nose, Ri... |
ORPHA:1988 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Microcephaly, Cleft palate, Hypoplasia of the corpus callosum |
OMIM:601420 |
| Zechi-Ceide Syndrome |
|
Abnormal helix morphology, Cleft palate, Short philtrum, Sandal gap, Mandibular prognathia, Abnor... |
ORPHA:217017 |
| Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Platysp... |
OMIM:154780 |
| Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Macroglossia, Depressed nasal bridge, Short neck, Brachydactyly, ... |
ORPHA:1914 |
| Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Scoliosis, Abnormal form of th... |
ORPHA:429 |
| Aminopterin Syndrome Sine Aminopterin |
|
High palate, Thoracic scoliosis, Joint contracture of the hand, Cleft palate, Arachnodactyly, Mic... |
OMIM:600325 |
| Parc Syndrome |
|
Microretrognathia, Cleft palate |
OMIM:600331 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
High palate, Bulbous nose, Depressed nasal bridge, Short philtrum, Tapered finger, Downslanted pa... |
OMIM:617061 |
| Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Delayed proximal femoral epiphys... |
ORPHA:353298 |
| Trisomy 4P |
|
Thick eyebrow, Abnormality of the dentition, Depressed nasal bridge, Short neck, Scoliosis, Radia... |
ORPHA:1738 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Kyphosis, Abnormality of the dentition, Scol... |
ORPHA:1858 |
| Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Convex nasal ridge, Micrognathia, Brachydactyly, Genu ... |
ORPHA:1777 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb |
ORPHA:1471 |
| Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal ... |
ORPHA:2662 |
| Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
| Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation |
|
Bulbous nose, Upslanted palpebral fissure, Scoliosis, Brachydactyly, Aplasia/Hypoplasia of toe, E... |
OMIM:613627 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Ventricular septal defect, Short nose, Cardiomegaly, Flexion contractur... |
OMIM:616897 |
| Roifman Syndrome |
|
Irregular vertebral endplates, Short toe, Clinodactyly of the 5th finger, Short metacarpal, Bicon... |
OMIM:616651 |
| Isolated Dandy-Walker Malformation |
|
Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:217 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Wide mouth, Cone-shaped epiphysis, Tapered finger, Downslanted palpebral fissures, Broad hallux, ... |
OMIM:618659 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... |
ORPHA:261243 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
High palate, Upslanted palpebral fissure, Open bite, Broad hallux phalanx, Mandibular prognathia,... |
ORPHA:168624 |
| Thai Symphalangism Syndrome |
|
High palate, Short toe, Hypodontia, Proximal symphalangism of hands, Distal symphalangism of hand... |
OMIM:608028 |
| 5Q14.3 Microdeletion Syndrome |
|
Deeply set eye, Thick eyebrow, Upslanted palpebral fissure, Short philtrum, Short nose, Open mout... |
ORPHA:228384 |
| Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Short philtrum, Narrow palm, Umbilical hernia, Abnormal heart morpholog... |
ORPHA:352490 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal nasal bone morphology, Abnormality of the hand, Abnormal... |
ORPHA:521308 |
| Char Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Triangular mouth, Broad nasal tip, Short philtrum,... |
OMIM:169100 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Convex nasal ridge, Atrial septal defect, Hypoplasia of the ear cartilage, Arachnoda... |
ORPHA:1035 |
| Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Abnormality of finger, Hypoplasia of the radius, Scoliosis, Oral cle... |
ORPHA:2319 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Polydactyly, Epicanthus, Short nose, Hypoplastic ischia, Hypertelorism |
OMIM:616910 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
| Distal Monosomy 10Q |
|
Facial diplegia, High palate, Prominent fingertip pads, Craniosynostosis, Cleft palate, Tapered f... |
ORPHA:96148 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... |
ORPHA:1540 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Narrow palate, Brachydactyly, Prominent nose, Mandibular prognathia, Wide nasal bridge |
OMIM:617169 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Short nose, Distichiasis |
ORPHA:2598 |
| Non-Distal Monosomy 10Q |
|
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Overlapping fingers, Brachydactyly, ... |
ORPHA:1581 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Platyspondyly, Irre... |
ORPHA:1856 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Distal symphalangism of hands, Short 1st metacarpal, Type A1 brachydactyly, Chess-pawn distal pha... |
OMIM:113450 |
| Acrofrontofacionasal Dysostosis |
|
High palate, Short distal phalanx of finger, Cleft palate, Everted lower lip vermilion, Aplasia/H... |
ORPHA:1784 |
| Neu-Laxova Syndrome 1 |
|
Ablepharon, Cleft palate, Micromelia, Ventricular septal defect, Small placenta, Rocker bottom fo... |
OMIM:256520 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, T... |
ORPHA:166011 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Microcephaly, Cleft palate |
OMIM:616570 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Hypertelorism, Proptosis, Brachydactyly |
ORPHA:35099 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... |
ORPHA:2476 |
| Ohdo Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, Sparse eyebrow, Thin vermilion border, Micrognathia... |
OMIM:249620 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Double outlet right ventricle, Atrial septal defect, Overriding aorta, Pulmonic sten... |
ORPHA:3304 |
| Trisomy 12P |
|
Clinodactyly of the 5th finger, Thick eyebrow, Malar flattening, Cleft palate, Everted lower lip ... |
ORPHA:1699 |
| Blepharocheilodontic Syndrome 2 |
|
Tooth agenesis, Cutaneous syndactyly, Euryblepharon, Distichiasis, Conical tooth, Hypertelorism, ... |
OMIM:617681 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Upslanted palpebral fissure, Short nose, Tented upper lip vermilion, Synophrys, Open mouth, Denta... |
OMIM:300143 |
| Anauxetic Dysplasia 2 |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Hypodontia, Macroglossia, Short neck, C... |
OMIM:617396 |
| Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Upslanted palpebral fissure, Micrognathia, Camptodactyl... |
ORPHA:3409 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bulbous nose, Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... |
OMIM:612474 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, High, narrow palate, Sparse eyebrow, Brachydactyly, Epicanthus |
OMIM:619692 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, High, narrow palate, Small hand, Micrognathia, Dep... |
ORPHA:444002 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic pulmonary v... |
OMIM:618021 |
| Baraitser-Winter Syndrome 1 |
|
Wide mouth, Overfolded helix, Short nose, Cleft upper lip, Retrognathia, Long palpebral fissure, ... |
OMIM:243310 |
| Freeman-Sheldon Syndrome |
|
Narrow mouth, Deeply set eye, Talipes equinovarus, Depressed nasal ridge, Abnormality of the dent... |
ORPHA:2053 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Anal atresia, Bulbous nose, Narrow mouth, Congenital diaphragmat... |
ORPHA:1780 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangi... |
OMIM:186500 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... |
OMIM:314390 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Dental crowding, Talipes equinovarus, Short palpebral fissure, Macroglossia, Long ph... |
OMIM:616354 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
| Non-Distal Trisomy 13Q |
|
High palate, Hypotelorism, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Abn... |
ORPHA:1702 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Anomalous pulmonary venous return, Chronic sinusitis, Abnormal heart morphology, D... |
ORPHA:244 |
| Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck, Platyspondyly, F... |
ORPHA:1427 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Lower limb hypertonia, Broad nasal tip, Long nose, Depressed nasal bridge, Brachydac... |
OMIM:619995 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Pr... |
OMIM:614886 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Vertebral wedging, Short distal phalanx of... |
ORPHA:93314 |
| Weaver-Williams Syndrome |
|
Microcephaly, Narrow mouth, Cleft palate |
ORPHA:3448 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Single transverse palmar crease... |
OMIM:615502 |
| Distal Trisomy 18Q |
|
High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Progressive interverte... |
ORPHA:1716 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Dep... |
ORPHA:7 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Talipes equinovarus, Micrognathia, Brachydactyly, Short middle phalanx of finger, Blepharophimosi... |
OMIM:612626 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Micrognathia, Short philtrum, Broad nasal tip, Narrow nasal bridge, Congenit... |
ORPHA:166108 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Depre... |
ORPHA:90652 |
| Nablus Mask-Like Facial Syndrome |
|
High palate, Sparse eyebrow, Abnormality of the dentition, Depressed nasal bridge, Short neck, Ta... |
OMIM:608156 |
| 8Q12 Microduplication Syndrome |
|
Sensorineural hearing impairment, Narrow mouth, Atrial septal defect, Everted lower lip vermilion... |
ORPHA:228399 |
| Moebius Syndrome |
|
High palate, Abnormality of the dentition, Depressed nasal bridge, Short neck, Hand clenching, Ta... |
OMIM:157900 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... |
OMIM:608940 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Joint stiffness, Protruding ear, Tooth agenesis, Renal hypoplasia/aplasia, Congenital diaphragmat... |
ORPHA:1166 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand |
OMIM:190680 |
| 20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Atrial septal defect, Malar flattening, Microtia, Depressed nasal bridge, Broad hal... |
ORPHA:261295 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Large fleshy ears, Ulnar deviation of the hand, Convex nasal ridge, Congenital diaphragmatic hern... |
OMIM:263210 |
| Autosomal Dominant Omodysplasia |
|
Hypertelorism, Malar flattening, Micrognathia, Depressed nasal bridge, Short humerus, Long philtr... |
ORPHA:93328 |
| Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Proptosis, Abnormal epiphysi... |
ORPHA:1798 |
| Orofacial Cleft 15 |
|
Bulbous nose, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Agenesis of lateral ... |
OMIM:616788 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Cleft palate, Sparse eyebrow, Depressed nasal bridge, Downslanted palpebral fissur... |
ORPHA:459061 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Wide mouth, Low hanging columella, Long philtrum, Delayed eruption of teeth, Scolios... |
OMIM:618825 |
| Bardet-Biedl Syndrome 7 |
|
Narrow mouth, 2-3 toe syndactyly, Deeply set eye, Malar flattening, Postaxial polydactyly, Depres... |
OMIM:615984 |
| Al-Raqad Syndrome |
|
Narrow mouth, Deeply set eye, Brachydactyly, Short nose, Sandal gap, Thin upper lip vermilion |
OMIM:616459 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the ear, Prominent fingertip pads, Broad nasal tip, Single transverse palmar creas... |
ORPHA:391372 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Atrial septal defect, Malar flattening, Cleft palate, Micrognathia, Microcephaly |
ORPHA:93946 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum, Hypertelorism |
OMIM:125700 |
| Mcdonough Syndrome |
|
Dental malocclusion, Kyphosis, Short palpebral fissure, Open bite, Micrognathia, Short philtrum, ... |
ORPHA:2471 |
| Ascher Syndrome |
|
High palate, Abnormal eyelid morphology, Upper eyelid edema, Abnormality of upper lip, Deviation ... |
ORPHA:1253 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Narrow mouth, Talipes equinovarus, Adducted thumb, Arachnodactyly, Long philtrum, Ca... |
OMIM:615539 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Epiphyseal stippling, Low-set ears, Colpocephaly, Wide nasal bridge |
OMIM:614870 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Malar flattening, Micrognathia, Hypoplastic ilia, Platyspondyly, Metaphyseal... |
OMIM:614524 |
| C Syndrome |
|
High palate, Wide mouth, Micromelia, Ulnar deviation of finger, Ventricular septal defect, Short ... |
OMIM:211750 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Epicanthus, Prominent nose, Abn... |
ORPHA:2958 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Depressed nasal bridge, Cutaneous syndactyly, Ventricular septal defect, Double outlet right vent... |
OMIM:618316 |
| Carpenter Syndrome 2 |
|
High palate, Sparse eyebrow, Craniosynostosis, Depressed nasal bridge, Carious teeth, Single tran... |
OMIM:614976 |
| Rhiny |
|
Thin vermilion border, Short nose, Anteverted nares |
OMIM:180360 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb unde... |
OMIM:118651 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hypotelorism, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Short neck, Long philtr... |
OMIM:211920 |
| Tetrasomy 18P |
|
Narrow mouth, Thin vermilion border, Long philtrum, Scoliosis, Downslanted palpebral fissures, Ep... |
ORPHA:3307 |
| Waardenburg Syndrome, Type 3 |
|
Carpal synostosis, Joint contracture of the hand, Cutaneous finger syndactyly, Camptodactyly of f... |
OMIM:148820 |
| Joubert Syndrome 14 |
|
Hydrocephalus, Malar flattening, Postaxial polydactyly, Open mouth, Encephalocele, Short philtrum... |
OMIM:614424 |
| Rubinstein-Taybi Syndrome |
|
High palate, Abnormality of the dentition, Carious teeth, Downslanted palpebral fissures, Clinoda... |
ORPHA:783 |
| Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Ulnar deviation of the hand, Cleft palate, Micropenis, Postaxial polyd... |
OMIM:614175 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Macrocephaly, Cleft palate, Short mandibular rami, Glossoptosi... |
OMIM:614669 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Ventricular septal defect, Short n... |
ORPHA:369891 |
| Mosaic Trisomy 14 |
|
High palate, Wide mouth, Cleft palate, Micrognathia, Camptodactyly of finger, Short neck, Bilater... |
ORPHA:1703 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
High palate, Thick upper lip vermilion, Deeply set eye, Prominent fingertip pads, Upslanted palpe... |
OMIM:300558 |
| Anauxetic Dysplasia 1 |
|
Short neck, Platyspondyly, Microdontia, Rhizomelia, Small epiphyses, Cervical subluxation, Mandib... |
OMIM:607095 |
| Pentasomy X |
|
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Small hand, Micrognathia, Camptodact... |
ORPHA:11 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Lumbar hyperlordosis, Hypotelorism, Broad nasal tip, Congenital hip dislocat... |
OMIM:619719 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Vent... |
OMIM:228940 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Hypertelorism, Wide nasal br... |
OMIM:616430 |
| Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
| Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... |
OMIM:614753 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
| Feingold Syndrome Type 2 |
|
Microcephaly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short t... |
ORPHA:391646 |
| Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... |
OMIM:258860 |
| Chand Syndrome |
|
Agenesis of maxillary incisor, Short fifth metatarsal, Ankyloblepharon, Cleft palate, Depressed n... |
ORPHA:1401 |
| Trisomy 1Q |
|
Hydrocephalus, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Downslanted palpe... |
ORPHA:261344 |
| Perlman Syndrome |
|
Deeply set eye, High, narrow palate, Retrognathia, Micrognathia, Wide nasal bridge, Abnormality o... |
ORPHA:2849 |
| Craniosynostosis 3 |
|
Dental malocclusion, Brachydactyly, Single transverse palmar crease, Hallux valgus, Ptosis |
OMIM:615314 |
| Stickler Syndrome Type 1 |
|
Cleft palate, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short ... |
ORPHA:90653 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, High palate, 2-3 toe syndactyly, Low anterior hairline, Decreased sensory nerve ... |
OMIM:218000 |
| Chromosome 9P Deletion Syndrome |
|
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Malar flatte... |
OMIM:158170 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Bulbous nose, Cleft palate, Abnormality of canine, Short nose, Tented upper lip vermilion, Agenes... |
ORPHA:364577 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Spina bifida occulta, Slender long bone, Downturned corners of mouth, Epicanthus, Short nose, Ant... |
ORPHA:1185 |
| Abruzzo-Erickson Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Atrial septal defect,... |
ORPHA:921 |
| Prieto Syndrome |
|
Talipes equinovarus, Retrognathia, Abnormality of the dentition, Epicanthus, Prominent nose, Clin... |
OMIM:309610 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Delayed eruption o... |
OMIM:184260 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... |
ORPHA:93316 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly |
ORPHA:1078 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... |
ORPHA:52056 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Downslanted palpebral... |
ORPHA:357175 |
| Aarskog-Scott Syndrome |
|
Cleft palate, Short neck, Downslanted palpebral fissures, Single transverse palmar crease, Short ... |
OMIM:305400 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Abno... |
ORPHA:101039 |
| Hajdu-Cheney Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Short nail, Foot acroosteolysis, ... |
OMIM:102500 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
| Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Broad nasal tip, Short tibia, Syndactyly, Polydactyly, Telecanthus, Bi... |
OMIM:300484 |
| Coffin-Siris Syndrome 5 |
|
Short distal phalanx of finger, Wide mouth, Sparse scalp hair, Low anterior hairline, Atrial sept... |
OMIM:616938 |
| Intellectual Disability-Strabismus Syndrome |
|
High palate, Wide mouth, Depressed nasal bridge, Abnormality of the dentition, Short nose, Rocker... |
ORPHA:363528 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Wide mouth, Sparse eyebrow, Depressed nasal bridge, Tapered finger, Single transverse palmar crea... |
OMIM:619720 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Micrognathia, Depressed nasal bridge, Aplasia of the proximal phalanges of the... |
ORPHA:2256 |
| Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Malar flattening, Cleft palate, Flared m... |
OMIM:601561 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
High palate, Bulbous nose, Clinodactyly of the 5th finger, Protruding ear, Hypoplastic left heart... |
OMIM:618829 |
| Gms Syndrome |
|
Small hand, Depressed nasal bridge, Short philtrum, Downslanted palpebral fissures, Epicanthus, S... |
OMIM:138770 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Abnormal oral cavity morphology, Micrognathia, Short philtrum, Sh... |
ORPHA:1516 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cleft palate, Sparse eyebrow, Short philtrum, Ventricular septal defect, Single transverse palmar... |
ORPHA:464738 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly, Broad hallux phalanx, Telecanthus, Postaxial hand p... |
ORPHA:380 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Hyperextensibility of the finger joints, Depressed nasal bridge, Platyspondyly, Tapered... |
OMIM:313420 |
| Osteoglophonic Dysplasia |
|
High palate, Broad phalanx, Depressed nasal bridge, Shallow orbits, Short neck, Platyspondyly, Do... |
OMIM:166250 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapered finger, Do... |
OMIM:612350 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Abnormality of the h... |
ORPHA:1350 |
| Temple-Baraitser Syndrome |
|
High palate, Wide mouth, Depressed nasal bridge, Short phalanx of the thumb, Delayed eruption of ... |
ORPHA:420561 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Dental crowding, Thin upper lip vermilion, Brachydactyly, Sparse lateral eyebrow |
OMIM:618879 |
| Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
| 3P25.3 Microdeletion Syndrome |
|
Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Short philtrum, Tapered finger, Broa... |
ORPHA:435638 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Micrognathia, Depressed nasal bridge, Downturned corners of mouth, Epicanthus, Short nose, Anteve... |
OMIM:614744 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
High palate, Velopharyngeal insufficiency, Depressed nasal ridge, Micrognathia, Downslanted palpe... |
OMIM:608363 |
| Ring Chromosome 14 Syndrome |
|
High palate, Depressed nasal ridge, Depressed nasal bridge, Short neck, Downslanted palpebral fis... |
OMIM:616606 |
| Short Stature-Obesity Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Narrow nose, Micromelia, Limb underg... |
OMIM:269870 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Long nose, Cone-shaped epiphysis, Micrognathia, Brachydactyly, Palmoplantar kerat... |
ORPHA:2824 |
| Verheij Syndrome |
|
Abnormal cardiac septum morphology, Renal agenesis, Short 5th finger, Long philtrum, Renal cyst, ... |
OMIM:615583 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Downturned corners of... |
OMIM:615162 |
| Acrocallosal Syndrome |
|
High palate, Abnormal cardiac septum morphology, Abnormal pinna morphology, Wide mouth, Triangula... |
OMIM:200990 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Malar flattening, Upslanted palpebral fissure, Micrognathia, Short neck, Dia... |
ORPHA:436245 |
| Tarp Syndrome |
|
High palate, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous syndactyly, Optic a... |
OMIM:311900 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Abno... |
ORPHA:2639 |
| Kbg Syndrome |
|
Cleft palate, Cutaneous syndactyly, Short neck, Macrodontia, Finger clinodactyly, Single transver... |
