Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Micrognathia, H... |
OMIM:615524 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Truncus arterios... |
ORPHA:401935 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept... |
ORPHA:294975 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... |
ORPHA:261272 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol... |
OMIM:617927 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... |
OMIM:206920 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Cleft pa... |
ORPHA:2516 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte... |
OMIM:611867 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, High pa... |
ORPHA:217340 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, ... |
ORPHA:3434 |
Verheij Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Truncus arteriosus, Broad nas... |
OMIM:615583 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Polydac... |
OMIM:613885 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Exaggerated cupid's bow, Micro... |
ORPHA:261120 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... |
OMIM:231060 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Foot ... |
OMIM:616589 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Aganglionic megaco... |
ORPHA:59315 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Underdeveloped nasal alae, Cleft palate, Truncus arteriosus, Short dis... |
OMIM:601355 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Atr... |
ORPHA:2538 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Hypoplastic right heart, Ventricu... |
OMIM:618142 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,... |
OMIM:300577 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Feingold Syndrome 1 |
|
Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Short thumb, Short toe, ... |
OMIM:164280 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Postaxial hand pol... |
OMIM:136760 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ... |
ORPHA:268249 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Esophageal atresia, Tracheoesophageal fistula, Coarct... |
ORPHA:1923 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... |
ORPHA:2008 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Hydrolethalus |
|
Tracheal atresia, Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous c... |
ORPHA:2189 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate |
OMIM:619452 |
Temtamy Syndrome |
|
Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Aortic aneurysm, Clinodactyly of ... |
ORPHA:1777 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Dysphagia, Atrial septal def... |
ORPHA:89844 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's... |
OMIM:617616 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Congenital Contractural Arachnodactyly |
|
Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Tracheoesophageal fistula, Mitra... |
ORPHA:115 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal mitral valve morp... |
ORPHA:1277 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... |
ORPHA:228190 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... |
OMIM:314390 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia |
OMIM:616570 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard p... |
ORPHA:3426 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bilateral microp... |
OMIM:601186 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s... |
OMIM:603387 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Absent thumb, Esophageal atres... |
OMIM:300514 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft... |
OMIM:612913 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Esophageal atresia, Trac... |
OMIM:619859 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow pa... |
ORPHA:435638 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Esophageal atresia, Patent ductus arte... |
ORPHA:77298 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no... |
OMIM:251255 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely... |
ORPHA:363417 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Br... |
OMIM:601927 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retr... |
OMIM:619981 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Acces Syndrome |
|
Hip dislocation, Tracheoesophageal fistula, Hip dysplasia, Split foot, Ectrodactyly, Clinodactyly... |
OMIM:619959 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Micrognathia, 2-3 finger syndact... |
ORPHA:2437 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double ... |
OMIM:616954 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae, Bulbous nose, Velo... |
OMIM:192430 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangism affecting the phal... |
ORPHA:2547 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Abnormal nostril morphology, Narrow... |
ORPHA:3469 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Abnormal car... |
ORPHA:93941 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Absent thumb, Prominent nose, Short thumb, Patent ductus arteriosus, M... |
OMIM:617516 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... |
ORPHA:1104 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de... |
OMIM:619142 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... |
ORPHA:1278 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac... |
ORPHA:261330 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:164180 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal cardiac septum morp... |
ORPHA:2370 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, High, nar... |
ORPHA:2879 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n... |
ORPHA:1106 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Depressed nasal bridge, Camptodacty... |
ORPHA:261344 |
Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Mal... |
OMIM:615984 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Pa... |
OMIM:617926 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Aplas... |
ORPHA:1695 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow greater sciatic notch, Short tibi... |
OMIM:617925 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, Solitary median maxil... |
ORPHA:66625 |
Emanuel Syndrome |
|
Broad jaw, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Dental crow... |
OMIM:609029 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Median cleft lip, Abnormality of the dentition, High, na... |
ORPHA:3378 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Broad nasal tip, Preaxial hand polydactyly, Orofacial cleft, Large hands |
ORPHA:85287 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Small ... |
ORPHA:969 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Prea... |
ORPHA:3098 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Intestinal mal... |
OMIM:243605 |
Schisis Association |
|
Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia |
ORPHA:63862 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardiomyop... |
OMIM:300845 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Wide nasal bri... |
OMIM:614083 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, High palate, Triph... |
ORPHA:84 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Depressed nasal bridge, An... |
ORPHA:404440 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri... |
OMIM:265380 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... |
OMIM:607624 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Abn... |
ORPHA:861 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Micr... |
ORPHA:1388 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Hypoplastic spleen, Ank... |
OMIM:602361 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p... |
OMIM:300484 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... |
ORPHA:508498 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, High, narrow pala... |
OMIM:180849 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ... |
ORPHA:96170 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... |
ORPHA:90652 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... |
ORPHA:1832 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Missing ribs, Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal fistu... |
ORPHA:1834 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad ... |
OMIM:614526 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip... |
ORPHA:411986 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, ... |
ORPHA:2754 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, Esophageal atresia, Pulm... |
OMIM:301030 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic... |
ORPHA:93267 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Bronchomalacia, Tracheomalacia, Cardiomegaly, Anomalous tracheal carti... |
ORPHA:95430 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Long upper lip, Short toe, Broad palm, Short foot, Broad philtrum, De... |
OMIM:602342 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening |
OMIM:183700 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Prominent nasal bridge, Tracheoesophageal fistula, Abnormal hip bone m... |
ORPHA:3068 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a... |
ORPHA:1110 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Vacterl/Vater Association |
|
Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Abnormality of the pancreas,... |
ORPHA:887 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Opitz Gbbb Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Anteverted nares, Cleft li... |
ORPHA:2745 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Promi... |
OMIM:618494 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Gastroesophageal reflux, Humerorad... |
OMIM:134780 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,... |
OMIM:606242 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
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 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Choanal atresia, Intestinal malrotation, Cleft lip,... |
ORPHA:1199 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Parachute mitral valve, Prominent nose, Short philtrum, Gastroesophageal reflux,... |
OMIM:618316 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Hepatomegaly, Pancytopenia, Stomatitis, Dextrocardia, Megaloblastic ane... |
OMIM:277380 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Mi... |
OMIM:612474 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Muscular ventricular septal defect, Submucous cle... |
OMIM:619227 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplic... |
OMIM:227646 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Thin verm... |
ORPHA:1702 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Downtur... |
ORPHA:1895 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate, Hepatomegaly |
ORPHA:2432 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Fryns Syndrome |
|
Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Gastroeso... |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Cholest... |
OMIM:615415 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft uppe... |
OMIM:612561 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo... |
ORPHA:1200 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Downturned corners of mouth, High palate, Gastroesophageal reflux, Atrioventricular... |
OMIM:613792 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
Clark-Baraitser Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... |
OMIM:617752 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Bicuspid aortic valve, Cleft soft pa... |
OMIM:618529 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Downturned ... |
ORPHA:1780 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... |
OMIM:147250 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid... |
ORPHA:1406 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... |
OMIM:155050 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp... |
ORPHA:1529 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Polydactyly, Microphthalmia, Leuke... |
OMIM:602501 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Pancreatic ... |
OMIM:615503 |
Moebius Syndrome |
|
Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Abnormality o... |
OMIM:157900 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... |
ORPHA:166272 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Broad nasal tip, Bifid nasa... |
OMIM:603671 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial... |
ORPHA:93946 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Micrognathia, Esophageal atresia, Hypoplasia of the radius, ... |
ORPHA:3412 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Sandal gap, Broad nasal tip, Prominent n... |
OMIM:617755 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Long philtrum, Atrial septal defect, Microphthalmia, Short n... |
OMIM:300887 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... |
OMIM:619736 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbou... |
OMIM:613604 |
Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, ... |
OMIM:605627 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Sh... |
OMIM:619356 |
Mosaic Trisomy 14 |
|
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Wide nasal bridg... |
ORPHA:1703 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, ... |
ORPHA:1692 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Retrognathia, High palate, Narrow mouth |
ORPHA:2528 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hand ... |
OMIM:214800 |
Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of the iris, Downturned corners... |
ORPHA:1699 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micromelia, Micrognathia, Postaxial han... |
OMIM:241800 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aort... |
OMIM:617478 |
Pierpont Syndrome |
|
Thin upper lip vermilion, Wide nasal ridge, Short toe, Broad philtrum, Deep palmar crease, Thin v... |
ORPHA:487825 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach morphology, Ascending a... |
ORPHA:141127 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Abnormality of the elbow, Fla... |
ORPHA:163649 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Micrognathia, High palate, Transposition of th... |
ORPHA:1913 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge... |
ORPHA:1716 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar... |
ORPHA:508488 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Gingival fibromatosis, Tracheoesophageal fistul... |
ORPHA:2591 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... |
OMIM:619343 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin seq... |
OMIM:611961 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, T... |
OMIM:612651 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi... |
ORPHA:2863 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Depressed nasal bridge, Anteverted nares, Postaxial polydac... |
OMIM:615761 |
Sweeney-Cox Syndrome |
|
Micrognathia, Asplenia, High palate, Short philtrum, Gastroesophageal reflux, 2-5 toe syndactyly,... |
OMIM:617746 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus,... |
ORPHA:1794 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyl... |
OMIM:615996 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr... |
OMIM:300166 |
Seckel Syndrome 2 |
|
Microdontia, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Microphthalmia, Microg... |
OMIM:606744 |
Cofs Syndrome |
|
Camptodactyly of finger, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Everted lowe... |
ORPHA:1466 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa... |
ORPHA:139471 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Wide nasal bridge, Orofacial cleft, Perim... |
OMIM:618804 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ... |
OMIM:211750 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance... |
OMIM:215045 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... |
ORPHA:2831 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe s... |
ORPHA:485405 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb undergrowth, Short nose, Brachyd... |
ORPHA:221054 |
Holzgreve Syndrome |
|
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Anorectal anomaly, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of t... |
ORPHA:567 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... |
OMIM:258860 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout... |
OMIM:612776 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Trisomy 4P |
|
Depressed nasal bridge, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Pre... |
ORPHA:1738 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Depressed nasal bridge, Micrognathia |
ORPHA:1918 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel... |
ORPHA:2378 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Charge Syndrome |
|
Anophthalmia, Abnormal tibia morphology, Gastroesophageal reflux, Clinodactyly of the 5th finger,... |
ORPHA:138 |
Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Aortic aneurysm, Short 2nd t... |
OMIM:218340 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Pyloric stenos... |
ORPHA:379 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Hip dysplasia, Thin vermilion border, High palate... |
OMIM:617991 |
Hartsfield Syndrome |
|
Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of th... |
ORPHA:2117 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Down-sloping shoulders, Microdontia, Micrognathia, Widely spaced tee... |
OMIM:619694 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality... |
ORPHA:369891 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia... |
ORPHA:564 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios... |
ORPHA:65759 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Cleft... |
OMIM:614815 |
Kapur-Toriello Syndrome |
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Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Camptodactyly o... |
OMIM:244300 |
Perlman Syndrome |
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Hepatomegaly, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Abnormal pancreas ... |
ORPHA:2849 |
Heart And Brain Malformation Syndrome |
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Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Ventricular septal defect, Hig... |
OMIM:616920 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
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Microphthalmia |
OMIM:616335 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Sandal gap, Dental crowding, Short ... |
OMIM:617877 |
8P23.1 Microdeletion Syndrome |
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Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... |
ORPHA:251071 |
Pelger-Huet Anomaly |
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Depressed nasal bridge, Ventricular septal defect, Abnormality of neutrophils, Abnormality of the... |
OMIM:169400 |
Ermine Phenotype |
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White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Otopalatodigital Syndrome Type 1 |
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Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ... |
ORPHA:90650 |
Right Atrial Isomerism |
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Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Feingold Syndrome |
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Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Esophageal... |
ORPHA:1305 |
Potocki-Shaffer Syndrome |
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2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
Bardet-Biedl Syndrome 11 |
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Polydactyly |
OMIM:615988 |
Orofaciodigital Syndrome Type 2 |
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Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... |
ORPHA:2751 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Anteverted nares, Choanal atresia, Proximal placement of thumb, Ventricular septal defect, Microg... |
OMIM:610536 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Smooth philtrum, Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Den... |
OMIM:617602 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard... |
OMIM:619657 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Ciliary Dyskinesia, Primary, 37 |
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Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis |
OMIM:617577 |
Rubinstein-Taybi Syndrome 2 |
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Syndactyly, Broad hallux, Intestinal malrotation, Prominent nose, Carious teeth, Micrognathia, Ta... |
OMIM:613684 |
3C Syndrome |
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Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Gastroes... |
ORPHA:7 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
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Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... |
ORPHA:2001 |
Oculoauriculovertebral Spectrum With Radial Defects |
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Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... |
ORPHA:2549 |
Ring Chromosome 10 Syndrome |
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Sandal gap, Aganglionic megacolon, Tapered finger, Micrognathia, Wide nasal bridge, Thin vermilio... |
ORPHA:1438 |
Congenital Rubella Syndrome |
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Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Jaundice, Patent ductus ... |
ORPHA:290 |
Rhiny |
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Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... |
OMIM:618961 |
Whistling Face Syndrome, Recessive Form |
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Shoulder flexion contracture, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Na... |
OMIM:277720 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
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Camptodactyly of finger, Micrognathia, Gastroesophageal reflux, Narrow mouth, Short nose, Abnorma... |
ORPHA:1495 |
Acrocallosal Syndrome |
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Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Single transverse palmar crease, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th fing... |
OMIM:614701 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... |
OMIM:300863 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Bulbous... |
OMIM:613870 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Patent foramen ovale, Patent duc... |
OMIM:618652 |
Acitretin/Etretinate Embryopathy |
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Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
Holoprosencephaly |
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Anophthalmia, Abnormality of the spleen, Deep philtrum, Depressed nasal ridge, Absent nares, Gast... |
ORPHA:2162 |
17P13.3 Microduplication Syndrome |
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Wide nose, Congenital hip dislocation, High palate, Narrow mouth, Clinodactyly of the 5th finger,... |
ORPHA:217385 |
Septo-Optic Dysplasia Spectrum |
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Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Anosmia, Tracheoesophageal fis... |
ORPHA:3157 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Vater/Vacterl Association |
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Syndactyly, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Absent r... |
OMIM:192350 |
Pseudotrisomy 13 Syndrome |
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11 pairs of ribs, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventric... |
OMIM:264480 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... |
OMIM:619148 |
Bardet-Biedl Syndrome 14 |
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Polydactyly |
OMIM:615991 |
22Q11.2 Duplication Syndrome |
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Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Cleft palate, Hypoplas... |
ORPHA:1727 |
Craniosynostosis, Herrmann-Opitz Type |
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Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Malar flattening, Short no... |
ORPHA:2145 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio... |
OMIM:249670 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ... |
OMIM:217980 |
White Forelock With Malformations |
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Atrial septal defect, White forelock, Poliosis |
OMIM:277740 |
Hereditary Mucoepithelial Dysplasia |
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Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
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Right aortic arch with mirror image branching |
OMIM:107500 |
Suleiman-El-Hattab Syndrome |
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Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar ... |
OMIM:618950 |
Baraitser-Winter Syndrome 1 |
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Thin upper lip vermilion, Anteverted nares, Bicuspid aortic valve, Cleft upper lip, Duplication o... |
OMIM:243310 |
Pentasomy X |
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Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Wide nasal bridge, S... |
ORPHA:11 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,... |
ORPHA:171839 |
Femoral-Facial Syndrome |
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Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Orofa... |
ORPHA:1988 |
Martinez-Frias Syndrome |
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Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Meckel Syndrome, Type 5 |
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Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Microretrognathia, Overlapping toe, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cl... |
OMIM:618571 |
Bardet-Biedl Syndrome 13 |
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Polydactyly |
OMIM:615990 |
Brachytelephalangic Chondrodysplasia Punctata |
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Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Tracheal calcification, ... |
ORPHA:79345 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Atria... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Atria... |
ORPHA:353277 |
Vitamin K Antagonist Embryofetopathy |
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Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, M... |
ORPHA:1914 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Depressed nasal bridge, A... |
ORPHA:1327 |
Albinism, Oculocutaneous, Type Iv |
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Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Heterotaxy, Visceral, 8, Autosomal |
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Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Robinow Syndrome, Autosomal Dominant 2 |
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Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Depressed nasal bridge, Ant... |
OMIM:616331 |
Fanconi Anemia, Complementation Group S |
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Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... |
OMIM:617883 |
Fetal Alcohol Syndrome |
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Thin upper lip vermilion, Anteverted nares, Microdontia, Micrognathia, Non-midline cleft lip, Cle... |
ORPHA:1915 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl... |
OMIM:618955 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Prominent nasal bridge, Broad nasal ti... |
OMIM:613544 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario... |
OMIM:617102 |
Aase-Smith Syndrome |
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Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinov... |
ORPHA:916 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, Patent... |
ORPHA:3304 |
Stickler Syndrome, Type Ii |
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Arachnodactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Long fingers, High, narro... |
OMIM:604841 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Ventricular septal defect, Micrognathia, Cleft palate, Tooth agenesis, Abnormal aortic morphology... |
ORPHA:1166 |
Phaver Syndrome |
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Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Ventricular septal defect,... |
ORPHA:2876 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Anteverted nares, Carious teeth, Deep philtrum, Abnormality of the elbow, Thick lower lip vermili... |
ORPHA:2701 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Lo... |
ORPHA:90653 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Short nose, Anemia |
ORPHA:2598 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular sept... |
OMIM:145420 |
Char Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, V... |
ORPHA:46627 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Anteverted nares, Prominent nasal bridge, Arachnodactyly, Dental crowding, ... |
ORPHA:251019 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
Peho-Like Syndrome |
|
Short nose, Retrognathia, Open mouth, Tapered finger |
OMIM:617507 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Thrombocytopen... |
OMIM:185070 |
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 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Atrial septal defect, Broad hall... |
ORPHA:353281 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... |
ORPHA:364577 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle... |
OMIM:619339 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Holoprosencephaly 9 |
|
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft... |
OMIM:610829 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Abnormal dental p... |
ORPHA:2791 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Microphthalmia, Leukemia, Anemia |
OMIM:614082 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Short palm, M... |
ORPHA:93328 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd... |
OMIM:608572 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax... |
ORPHA:1120 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, 2-4 finger ... |
OMIM:107480 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, High palate... |
OMIM:614846 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia, Lymphadenopathy |
ORPHA:142 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho... |
ORPHA:210548 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ... |
OMIM:600987 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmo... |
OMIM:616894 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Anteverted nares, Micrognathia, Wide nasal bridge, Thin vermilion border, Narrow... |
OMIM:600118 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Micrognathia, Talipes equinovarus, Prominent nose |
OMIM:616171 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli... |
ORPHA:1848 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, ... |
ORPHA:250989 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Nasal polyposis, Abnormal atrial arrangement, Intestinal malrotation, Sit... |
ORPHA:244 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome... |
ORPHA:1775 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Monosomy 18Q |
|
Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal de... |
ORPHA:1600 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia... |
ORPHA:2409 |
Sirenomelia |
|
Absence of the sacrum, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, ... |
ORPHA:3169 |
Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Esophageal stricture, Thrombocytopenia, Patent ductus arter... |
OMIM:617053 |
Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Micrognathia, Biliary tract abnormality, Membranous subvalvular aortic stenosis... |
ORPHA:3191 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Abnormality of the dentition, Pr... |
ORPHA:627 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... |
ORPHA:1458 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Truncus arteriosus, Aniridia |
OMIM:206700 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Hamamy Syndrome |
|
Microcytic anemia, Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finge... |
OMIM:611174 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,... |
OMIM:601680 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... |
OMIM:614976 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Arachnodactyly, Broad nasal tip, Cleft lip, Cleft palate, Large hands |
OMIM:300263 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Arachnodactyly, Dental crowding, Narrow mouth, Mitral valve prolapse, Long philtrum, Bilateral ta... |
OMIM:615539 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Hypoplasia of the primary te... |
OMIM:257850 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cleft palate, Abdominal situs inver... |
OMIM:619123 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel... |
ORPHA:93329 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... |
OMIM:600001 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... |
OMIM:603194 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,... |
OMIM:164200 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Wide nasal bridge, Broad philtrum, ... |
OMIM:618577 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest serration, Metaphyse... |
OMIM:613320 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
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Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Pierre-Robin ... |
OMIM:184840 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... |
ORPHA:79113 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent ... |
ORPHA:391372 |
Tetraploidy |
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Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the thymus, Short philtrum, A... |
ORPHA:3305 |
Facial Paresis, Hereditary Congenital, 3 |
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Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... |
OMIM:614744 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malocclusion, Wide ... |
OMIM:618727 |
Even-Plus Syndrome |
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Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Atrial sep... |
OMIM:616854 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Anosmia, Singl... |
ORPHA:2250 |
Cat Eye Syndrome |
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Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Nevus Comedonicus Syndrome |
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Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... |
OMIM:613443 |
Cerebrooculofacioskeletal Syndrome 4 |
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Prominent nasal bridge, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thumb... |
OMIM:610758 |
Autosomal Recessive Robinow Syndrome |
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Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ... |
ORPHA:1507 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Pde4D Haploinsufficiency Syndrome |
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Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
Fibrochondrogenesis 2 |
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Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop... |
OMIM:614524 |
3Q29 Microduplication Syndrome |
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Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru... |
ORPHA:251038 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth |
OMIM:613670 |
Cohen Syndrome |
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Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... |
ORPHA:193 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... |
ORPHA:284169 |
Zechi-Ceide Syndrome |
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Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... |
ORPHA:217017 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
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