8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormality of the den... |
ORPHA:178303 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal dental enamel morphology, Red... |
ORPHA:3071 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Clinodactyly, Short nose |
OMIM:300577 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, High pa... |
ORPHA:217340 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Depres... |
ORPHA:1248 |
Lamellar Ichthyosis |
|
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Eve... |
ORPHA:313 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... |
ORPHA:2015 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Polyhydramnios, Deviation of finger, Round ear, Short nose, Abnormal palate mor... |
ORPHA:1450 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Redundant skin, Narrow nasal ridge, Bulbous nose, Lack of skin elastici... |
OMIM:612940 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe clinodactyly, Toe syndactyly, Depressed nasal bridge, Exag... |
ORPHA:261120 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Werner Syndrome |
|
Miscarriage, Convex nasal ridge, Rocker bottom foot, Small hand, Lack of skin elasticity, Skin ul... |
ORPHA:902 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Sand... |
OMIM:617752 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnormal palate morphology, Brachyda... |
ORPHA:1277 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity, Palmoplantar keratoderma |
ORPHA:384 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Lack of skin ela... |
OMIM:615381 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Death in infancy, Necrotizing enterocolitis, Toe syndactyly, Depressed nasal bridge, Anteverted n... |
OMIM:616809 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Micrognathia, Lack of skin elasticity, Palmoplantar keratoderma, Narrow mouth, Convex nasal ridge |
ORPHA:1979 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, External genital hypoplasia, Polyhydramnios, Micromelia, Micrognathi... |
ORPHA:2671 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpholo... |
ORPHA:1355 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Depressed nasal bridge, Sandal gap, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Bulbo... |
OMIM:300354 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cryptorchidism, High pal... |
ORPHA:1695 |
Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Gingival fibroma... |
ORPHA:1832 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Polyhydramnios, Micrognathia, Cry... |
OMIM:618393 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Depressed nasal bridge, Toe syndactyly, Micromelia, Micrognat... |
OMIM:241800 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Hypospad... |
OMIM:619736 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, High palate, Low-set ears, Narrow mouth, Clinodactyly of the 5th ... |
ORPHA:217385 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Posteriorly rotated ears, Broad nasal tip, Cryptorchidism, Short toe,... |
OMIM:602342 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Hearing impairment, Microgn... |
OMIM:613604 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge,... |
ORPHA:1716 |
Acromicric Dysplasia |
|
Short palm, Short metacarpal, Brachydactyly, Anteverted nares, Bulbous nose, Thick lower lip verm... |
ORPHA:969 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Hearing impairment, Micrognathia, Capitate-hamate fusion, Sho... |
OMIM:614078 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calc... |
ORPHA:163966 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel... |
ORPHA:93329 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Low-set ears, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Gastroesophageal... |
OMIM:619312 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Lack of skin elasticity, Abnormal metacarpal... |
ORPHA:2900 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Wide mou... |
OMIM:618506 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Polyhydramnios, Missing ribs, Esophage... |
OMIM:619859 |
Lipoid Proteinosis |
|
Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of the gingiva, Thic... |
ORPHA:530 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Large earlobe, Thin vermilion bor... |
OMIM:617991 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Abnormal an... |
ORPHA:2145 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radi... |
ORPHA:1388 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... |
OMIM:155050 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Cl... |
OMIM:256050 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal metacarpal morphology, Thin vermilion border, Narrow ... |
ORPHA:2370 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Protruding ear, Gastroesophageal reflux,... |
ORPHA:1495 |
Geleophysic Dysplasia 1 |
|
Short palm, Anteverted nares, Camptodactyly of finger, Coxa valga, Lack of skin elasticity, Hypop... |
OMIM:231050 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Micrognathia, Bilateral crypto... |
OMIM:613544 |
Perlman Syndrome |
|
Hypoplasia of penis, Anteverted nares, Posteriorly rotated ears, Micrognathia, High, narrow palat... |
ORPHA:2849 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkl... |
ORPHA:758 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge,... |
ORPHA:1703 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Polyhydramnios, Edema, Micrognathia, Macroglossia, Flared elbow metaphyses, Limb unde... |
ORPHA:1423 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Downtu... |
OMIM:601224 |
Acrodysostosis |
|
Micromelia, Depressed nasal ridge, Short metatarsal, Hypoplasia of the ulna, Short metacarpal, An... |
ORPHA:950 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Depressed ... |
OMIM:616331 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Downturne... |
OMIM:613443 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, M... |
OMIM:614744 |
Antisynthetase Syndrome |
|
Skin rash, Edema, Pruritus, Xerostomia, Lack of skin elasticity, Dysphagia |
ORPHA:81 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Short humerus, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Micrognath... |
ORPHA:93328 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes ... |
OMIM:613885 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal distal phalanx morphology of ... |
ORPHA:1387 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Micrognathia, Prominent fingertip pads, Anteverted nares, Cleft soft palate, Broad hallux, Wide n... |
OMIM:618529 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... |
OMIM:617127 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Depressed nasal bridge, Thickened helices, Broad metatarsal, Short metatarsal, ... |
OMIM:608328 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... |
OMIM:614669 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Anteverted nares, Arachnodactyly, Micromelia, Sandal gap, Genu... |
ORPHA:1035 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
C Syndrome |
|
Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh... |
OMIM:211750 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Micrognathia |
ORPHA:141152 |
Even-Plus Syndrome |
|
Bifid nasal tip, Depressed nasal ridge, Atopic dermatitis, Dysplasia of the femoral head, Microti... |
OMIM:616854 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Overfolded ... |
ORPHA:2631 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Large fleshy ears, Micropenis, Anteverted nares, H... |
OMIM:616897 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Macrotia, Smooth phi... |
ORPHA:438178 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft... |
OMIM:612913 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Widely-spaced maxillary central incisors, Oligodontia, Pa... |
ORPHA:363417 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
Microphthalmia With Limb Anomalies |
|
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... |
OMIM:206920 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Erythema, Wide nasal bridge, Thin vermilion... |
OMIM:610015 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Long penis, Cleft palate, Or... |
ORPHA:1988 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... |
OMIM:300558 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Microtia, Limb undergrowth, Short nose, Brachydactyly |
ORPHA:221054 |
Whistling Face Syndrome, Recessive Form |
|
Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Whistling appearance, Ulnar devi... |
OMIM:277720 |
Peho-Like Syndrome |
|
Open mouth, Short nose, Edema, Tapered finger |
OMIM:617507 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, H... |
ORPHA:171839 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Micrognathia, Cryptorchidism, Postaxial hand polyda... |
ORPHA:1702 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi... |
ORPHA:166272 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Mesomelic/rhizomelic limb shor... |
ORPHA:2632 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Depressed nasal bridge, Camptodactyl... |
ORPHA:628 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Hearing impairment, Broad nasal tip, Thick lower lip vermilion, Wide n... |
OMIM:619451 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... |
ORPHA:1200 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Polyhydramnios, Micrognathia, Symphalangism affecti... |
ORPHA:2547 |
2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Broad hallux phalanx, Toe clinodactyly, Anteverted nares, Prominent na... |
ORPHA:251019 |
Atelosteogenesis Type Ii |
|
Polyhydramnios, Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic... |
ORPHA:56304 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Anteverted nares, Micrognathia, Precocious puberty, Bilateral tripha... |
OMIM:619356 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Hearing impairment, Abnormality of the dentition, Lack of sk... |
ORPHA:90153 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Attached earlobe, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverte... |
ORPHA:1327 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Cleft p... |
OMIM:615524 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Widely space... |
OMIM:300882 |
Baralle-Macken Syndrome |
|
High, narrow palate, Striae distensae, Tapered finger |
OMIM:619255 |
Miller-Dieker Syndrome |
|
Anteverted nares, Polyhydramnios, Abnormal upper lip morphology, Clinodactyly of the 5th finger, ... |
ORPHA:531 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Intestinal malrotation, Short th... |
ORPHA:401935 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Anteverted nares, Polyhydramnios, Underdeveloped nasal alae, Congenital pyloric atresia, Microtia... |
OMIM:612138 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Prominent nose, Short philtrum, Gastroesophageal reflux, Long toe, Depressed nasal bridge, Anteve... |
OMIM:618316 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Bulbous nose, Sm... |
OMIM:618779 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Gastroesophageal reflux, Clinodact... |
OMIM:164745 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Sensorine... |
ORPHA:1529 |
Achondrogenesis Type 1B |
|
Anteverted nares, Polyhydramnios, Micromelia, Micrognathia, Hydrops fetalis, Short foot, Talipes ... |
ORPHA:93298 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Polyhydramnios, Micromeli... |
ORPHA:85166 |
Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity |
ORPHA:79254 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario... |
OMIM:617102 |
Ohdo Syndrome |
|
Small scrotum, Depressed nasal bridge, Anteverted nares, Hearing impairment, Micrognathia, Crypto... |
OMIM:249620 |
Achondrogenesis Type 1A |
|
Short palm, Anteverted nares, Polyhydramnios, Micromelia, Micrognathia, Hydrops fetalis, Short fo... |
ORPHA:93299 |
Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Striae distensae |
OMIM:157700 |
Mohr Syndrome |
|
Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Conducti... |
OMIM:252100 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Polyhydramnios, Bowing of the legs, Micromelia, Abnormal ... |
OMIM:200600 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Micrognathia, High palate, Long philtrum |
ORPHA:2598 |
Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
Achondrogenesis |
|
Anteverted nares, Polyhydramnios, Micromelia, Micrognathia, Hydrops fetalis, Long philtrum, Short... |
ORPHA:932 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Hearing impairment, Carious teeth, Cryptorch... |
ORPHA:2701 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ... |
ORPHA:90650 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Fetal ascites, Polyhydramnios, Micromelia, Micrognathia, Flared metaphysi... |
OMIM:215045 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Short m... |
OMIM:180870 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Wide nose, Redundant skin, Underdeveloped nasal alae, External ear malformatio... |
ORPHA:1252 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Underdeveloped nasal alae, Aplasia/Hypoplasi... |
ORPHA:1234 |
Trigonocephaly 1 |
|
High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum |
OMIM:190440 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Advan... |
OMIM:269250 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Depressed nasal ridge, Short 3rd metacarpal, Limb undergrowth, Short tibia, Short 4th... |
OMIM:118651 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh... |
ORPHA:2751 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide mouth, Gastroesophagea... |
OMIM:615419 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplas... |
OMIM:108720 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hy... |
ORPHA:2879 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares,... |
OMIM:614701 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Hypogonadotropic hypogonadism, Sensorineural hearing impairment, Honeyc... |
ORPHA:494 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Cryptorchidism, Clinodactyly, Wide nasal bridge, Long philtrum, S... |
OMIM:618577 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Edema, Underdevelo... |
ORPHA:2315 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Depressed nasal bridge, Acne, Rhizomelia, Micrognathia, Abnormality of the humerus... |
ORPHA:3098 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Anteve... |
OMIM:305400 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Hypospadias, Micrognathia, Overfolded helix, High palate, Abnormal helix ... |
ORPHA:1913 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hearing impairment, Mac... |
ORPHA:1914 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p... |
ORPHA:210548 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Tapered finger, Thick lower ... |
OMIM:300602 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Micromelia, Cryptorchidism, Hypogonad... |
ORPHA:85173 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Bifid scrotum, Abnormal pinna morphology, Cryptorchidism, Depr... |
ORPHA:1912 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Polyhydramnios, A... |
ORPHA:2759 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:3201 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... |
OMIM:618961 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un... |
OMIM:615866 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Small e... |
ORPHA:364577 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda... |
OMIM:300484 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Abnormal metacarpal m... |
ORPHA:166100 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm... |
ORPHA:3429 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short palm, Finger syndactyly, Low-set, posteriorly rotated ears, Ante... |
ORPHA:915 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Dental crowding, Sandal gap, Poster... |
OMIM:617877 |
Tarp Syndrome |
|
Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted nares, Wide nasal bridge, Mic... |
OMIM:311900 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Downtur... |
ORPHA:1895 |
Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Abnormal antihelix mo... |
ORPHA:1699 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Convex nasal ridge, External genital hypoplasia, Micrognathia, Tibial bowing, Hi... |
ORPHA:251028 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno... |
OMIM:251230 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th... |
OMIM:227270 |
Otospondylomegaepiphyseal Dysplasia |
|
Short metacarpal, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Sandal gap, Posterior... |
ORPHA:1427 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Absent tragus, Micrognathia, Preaxial hand polydactyly, Overfolded helix... |
ORPHA:79113 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Clinodactyly, Wide nasal bridge... |
ORPHA:369891 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Large hands, Thin vermilion border, Narrow mouth, Short nose, ... |
ORPHA:3307 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Cleft palate, Downturned corn... |
ORPHA:163649 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... |
ORPHA:2831 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, C... |
ORPHA:2635 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, ... |
ORPHA:1784 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Clef... |
ORPHA:93946 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Arachnodactyly, Narrow mouth, Protruding ear, High palate, Bilateral talipes equ... |
OMIM:615539 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Clitoral hypertrophy, Depressed nasal bridge, Anteve... |
OMIM:619124 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline... |
ORPHA:1580 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Microretrognathia, Prominent ... |
ORPHA:1307 |
Stiff Skin Syndrome |
|
Sensorineural hearing impairment, Lack of skin elasticity |
ORPHA:2833 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:1752 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nose, Micrognathia, Short metatarsal, Short philtrum, Bilateral coxa valga, Short phala... |
ORPHA:439822 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Open mouth, Broad nasal tip |
OMIM:613670 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Gastroesophageal reflux, Prominent nasal tip, Short nose, Smooth philtrum |
OMIM:618218 |
Stickler Syndrome, Type Ii |
|
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Micrognathia, High, narrow palate, Long... |
OMIM:604841 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Depressed nasal bridge, Anteverted nares, Edema, Overlapping toe, Pericardial effu... |
OMIM:617822 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, High palate, Short nose |
OMIM:615042 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hypoplasia, Depr... |
OMIM:228520 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Anteverted nares, Agangl... |
ORPHA:59315 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Clitoral hypoplasia, Micropeni... |
OMIM:616894 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract infec... |
ORPHA:391372 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... |
OMIM:183600 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Metaphyseal cu... |
OMIM:613320 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, High palate, Conductive hearing impairment... |
ORPHA:740 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose |
ORPHA:2429 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, 2-3 t... |
ORPHA:485405 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Precocious puberty, Pyloric st... |
ORPHA:96184 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the dentition, High, narrow palate... |
ORPHA:1642 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Micrognathia... |
OMIM:258860 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, External genital hypoplasia, B... |
ORPHA:3041 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, W... |
ORPHA:2107 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Proximal placement of ... |
OMIM:217980 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Diastema, Long philtrum, Short nose |
OMIM:300581 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Clitoral hypoplasia, Short palm, Micro... |
OMIM:268310 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the ... |
ORPHA:870 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Posteriorly rotated ... |
OMIM:239300 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Tapered finger, Bulbous ... |
OMIM:613870 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Polyhydramnios, Micromelia, Micrognathia, Cryptorchidism, Post... |
ORPHA:2189 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... |
ORPHA:97360 |
Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, Abnormal ear... |
ORPHA:217017 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Sandal gap, Tapered finger, Mi... |
OMIM:617061 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Esophageal atresia,... |
OMIM:610536 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Glandula... |
ORPHA:1358 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Dental crowding, Intestinal malrotation, Arachnodactyly, Sandal gap, Long nose, ... |
OMIM:617602 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Anosmia, Cleft palate, Micropenis, Bifid nose, Hyposmia... |
OMIM:614838 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearin... |
OMIM:616910 |
Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... |
OMIM:612916 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Wide nose, Abnormal external genitalia, Micrognathia, Bulbous nose, Supernumerary ... |
ORPHA:3473 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Abnormal elasticity of skin, Cryptorchidism, High palate, Gastroesophageal reflux, Follicular hyp... |
ORPHA:486815 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth... |
OMIM:620250 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Miscarriage, Micromelia, Bowing of the legs, Micrognathia, Cryptorchidi... |
ORPHA:1865 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palat... |
ORPHA:1790 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Frontal open bite, Micrognathia, Short toe, Gingival overgrowth, Blepharochalasis... |
OMIM:225410 |
3C Syndrome |
|
Finger syndactyly, Death in infancy, Hypoplasia of penis, Depressed nasal bridge, Intestinal malr... |
ORPHA:7 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Hypospadias, Eczema, Prominent nasal bridge, Absent thumb,... |
ORPHA:96097 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Polyhydramnios, Micrognathia, Contracture of the proximal interphalangeal joint ... |
OMIM:615485 |
Rafiq Syndrome |
|
Thin upper lip vermilion, Wide nose, Prominent nose, Bulbous nose, Wide nasal bridge, Cutis laxa,... |
OMIM:614202 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Genu valgum, Downturned co... |
ORPHA:2983 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, Mesoa... |
OMIM:146510 |
Solar Urticaria |
|
Edema, Pruritus, Periorbital edema, Angioedema, Abnormal tongue morphology, Abnormal lip morphology |
ORPHA:97230 |
Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... |
OMIM:137550 |
Raine Syndrome |
|
Micromelia, Micrognathia, Protruding ear, High palate, Choanal stenosis, Microdontia, Neonatal de... |
OMIM:259775 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... |
OMIM:154780 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Anteverted nares, Overlapping toe, Hypospadias, Underdeveloped nasal alae, Carious... |
OMIM:613026 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... |
OMIM:619854 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... |
OMIM:602483 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Abnormal dental enamel morph... |
ORPHA:1458 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Thin upper lip vermilion, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hyp... |
ORPHA:1295 |
Intellectual Disability-Strabismus Syndrome |
|
Polyhydramnios, Prominent nose, Micrognathia, High palate, Gastroesophageal reflux, Micropenis, D... |
ORPHA:363528 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... |
OMIM:300863 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Micro... |
ORPHA:570 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, ... |
ORPHA:1597 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Arachnodactyly, Striae distensae |
OMIM:618793 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Micromelia, Proximal placement of thumb, Crypto... |
ORPHA:3121 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Hypospadias, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cr... |
OMIM:613823 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Nonimmune ... |
OMIM:608013 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Clinodactyly, Wide n... |
OMIM:615583 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Sensorineural hearing impairment |
OMIM:618379 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Sensorineural hearing impairment, Hyperkeratosis... |
OMIM:616029 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Polyhydramnios, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Sex... |
OMIM:612651 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Anteverted nares, Micrognathia, Bulbous nose, Calcaneovalgus deformity, Cleft pal... |
OMIM:615065 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilateral choanal atresia/ste... |
OMIM:608572 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Bowing of the long bones, Short lingual frenulum, Hypoplastic scapulae... |
OMIM:614091 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... |
ORPHA:50945 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Hearing impairment, Anosmia, Hypogonadism, Short nose, Short nasal septum... |
OMIM:302950 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad hallux, Bulbous nose,... |
OMIM:614105 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tented upper lip vermilion, Gastroesophageal reflux, Short philtrum, Shawl scrotum, Short nose |
ORPHA:85277 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Hypospadias, Underdeveloped nasal alae, Metatarsus adductus, Hig... |
ORPHA:436003 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Brachydactyly |
ORPHA:2928 |
Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ... |
OMIM:601358 |
Prolidase Deficiency |
|
Depressed nasal bridge, Eczema, Micrognathia, Crusting erythematous dermatitis, Skin ulcer, Conca... |
OMIM:170100 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Small hand, Dow... |
ORPHA:238750 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Arthrogryposis, Distal, Type 2A |
|
Dental crowding, Polyhydramnios, High palate, Ulnar deviation of the hand or of fingers of the ha... |
OMIM:193700 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ... |
OMIM:618356 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Lymphedema, Hyperextensible skin, High palate, Thickened helices, Low-set, poster... |
ORPHA:1340 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Cryptorchidism, Duplication of phala... |
OMIM:243310 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Overlapping toe, Wide nasal br... |
OMIM:619383 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognath... |
ORPHA:1974 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... |
ORPHA:261236 |
Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue, Hyperkeratosi... |
ORPHA:1839 |
Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognat... |
ORPHA:1305 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary... |
ORPHA:819 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Talipes equinovarus, Dysphagia |
ORPHA:496689 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Polyhydramnios... |
ORPHA:1263 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia |
OMIM:616540 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Postaxial hand... |
OMIM:619143 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Micrognathia, Depressed nasal ridge, Protruding ear, Downturned corners of mouth,... |
OMIM:156200 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Bifid scrotum, Tented upper lip vermilion, Depressed nasal bri... |
ORPHA:363659 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
Ring Chromosome 22 Syndrome |
|
Edema, Lymphedema, Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Pleural effusion, Large h... |
ORPHA:1446 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Postaxial polydactyly, Genu valgum, Short philt... |
OMIM:619142 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Redundant skin, Protruding ear, Hyperextensible skin, High palate, Low-set, posteriorly rotated e... |
ORPHA:2953 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Palpebral edema, Depressed nasal bridge, Bulbous nose, Protruding ear... |
ORPHA:261144 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Narrow nasal ridge, Underdeveloped nasal alae, Atopic dermatitis, Furrowed tongue, Acne i... |
OMIM:301845 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... |
OMIM:101600 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cupped ear, Wide nasal bridge, ... |
OMIM:616367 |
Oculodentodigital Dysplasia |
|
Micrognathia, Clinodactyly of the 5th finger, Conductive hearing impairment, Broad columella, Fin... |
ORPHA:2710 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Eczema, Cleft palate, Concave nasal ridge, Short philtrum,... |
OMIM:617337 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum,... |
ORPHA:2756 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Absent nasal bridge, Neonatal death, Short tibia, Micropenis,... |
OMIM:617925 |
3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow palate, Deep philtrum, Do... |
ORPHA:435638 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Sandal gap, Low-set ears, Narrow mouth, Short nose, Brachydactyly |
OMIM:616459 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal hand metaphysis morphology, Ulnar metaphyseal irregularity, Broad proximal phalanges of ... |
ORPHA:174 |
Osteoglophonic Dysplasia |
|
Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger, Broad metac... |
OMIM:166250 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu... |
ORPHA:166002 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol... |
OMIM:258850 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... |
OMIM:145420 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Peho Syndrome |
|
Tented upper lip vermilion, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Tap... |
OMIM:260565 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Stickler Syndrome Type 1 |
|
Short nose, Sensorineural hearing impairment, Cleft palate, Long philtrum |
ORPHA:90653 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s... |
OMIM:253250 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E... |
ORPHA:3107 |
Lowry-Maclean Syndrome |
|
Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorc... |
ORPHA:2409 |
Pili Torti-Onychodysplasia Syndrome |
|
Abnormal pinna morphology, Eczema, Cleft lip, Cleft palate, Cutaneous syndactyly, Palmoplantar ke... |
ORPHA:2890 |
Atypical Werner Syndrome |
|
Convex nasal ridge, Rocker bottom foot, Micrognathia, Neoplasm of the small intestine, Lack of sk... |
ORPHA:79474 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Macrotia, Triangular mouth, Protruding e... |
OMIM:601675 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Deviation of the 5th toe, Micrognathia, Cl... |
ORPHA:391408 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Polyhydramnios, Coxa... |
OMIM:619833 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Inc... |
ORPHA:357001 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydramnios, S... |
ORPHA:1812 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Anteverted nares, Rhizome... |
OMIM:611209 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology... |
OMIM:618580 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth |
ORPHA:228384 |
Braddock-Carey Syndrome 1 |
|
Anteverted nares, Posteriorly rotated ears, Clinodactyly, Pierre-Robin sequence, Small hand, Wide... |
OMIM:619980 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Broad nasal tip, ... |
OMIM:614749 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Posteri... |
OMIM:618430 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Finger syndactyly, Low-set, posteriorly rotated ears, Microretrognathia, Hypospa... |
ORPHA:1786 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Depressed nasal bridge, Skin rash, Edema, Underdeveloped nasal alae, Cari... |
OMIM:604173 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cl... |
OMIM:618571 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b... |
ORPHA:90652 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Macroorchidism, Short nose, Open m... |
OMIM:300143 |
Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Edema, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartom... |
OMIM:269860 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Low-set ears, Long philtru... |
OMIM:616420 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Esophageal varix, Hyperkeratosis, Inflammation of the la... |
OMIM:614576 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognathia, Macrogl... |
OMIM:242860 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Small earlobe, Micropenis, Depressed nasal bridge, Anteverted nares, Short hallux, T... |
OMIM:608156 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Absent frontal sinuses, Widely-spaced maxillary central incisors, Gastroesophageal reflux, Microp... |
OMIM:301040 |
Opsismodysplasia |
|
Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Edema, Polyhydramnios, Rh... |
OMIM:258480 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Micromelia, Dumbbell-shaped lo... |
OMIM:151210 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Sensorineural h... |
ORPHA:79107 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Glossopto... |
OMIM:620269 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Access... |
OMIM:277170 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Posteriorly rotated ears, Micrognathia, Low-set ears, Dysphagia, Short nose, Me... |
ORPHA:163961 |
Tetrasomy 5P |
|
Redundant neck skin, Anteverted nares, Overlapping toe, Short hallux, Posteriorly rotated ears, M... |
ORPHA:3309 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, O... |
OMIM:616638 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, High palate, Short nose, Mac... |
OMIM:218000 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Sensorineural he... |
ORPHA:3241 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Thickened helices, Bulbous nose, Clinodactyly of ... |
OMIM:618828 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hypoplasia, ... |
OMIM:609945 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Long philtrum |
ORPHA:833 |
C Syndrome |
|
Redundant skin, Polyhydramnios, Micromelia, Micrognathia, High palate, Clinodactyly of the 5th fi... |
ORPHA:1308 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cleft upper lip, Cryptorchidism, Sensorineural he... |
OMIM:147950 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Pallor, Narro... |
ORPHA:54028 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Posteriorly rotated ears... |
OMIM:614080 |
Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Micrognathia, Aglossia, Cleft palate, Low-set ears, Narrow mouth, Cond... |
OMIM:202650 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Posteriorly rotated ears, Camptodactyly of finger, Prominent ... |
ORPHA:2083 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Dental crowding, Abnormal pinna morphology, Hamartoma of tongu... |
ORPHA:137888 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... |
OMIM:617865 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Midnasal stenosis, Antevert... |
ORPHA:280200 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami |
OMIM:141300 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De... |
ORPHA:87 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Prominent nose, Postaxial polyda... |
OMIM:616300 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Short nose, M... |
OMIM:620292 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Micromelia, Ab... |
ORPHA:35107 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Sensorineural hearing i... |
ORPHA:2143 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala... |
ORPHA:1135 |
Man1B1-Cdg |
|
Thin upper lip vermilion, Wide nose, Prominent nose, Wide nasal bridge, 2-3 toe syndactyly, Cutis... |
ORPHA:397941 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Furrowed tongue, Geographic tongue |
OMIM:614204 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Short me... |
OMIM:614613 |
Seckel Syndrome 2 |
|
Hypospadias, Micrognathia, Prominent nose, Clinodactyly of the 5th finger, Microdontia, Microglossia |
OMIM:606744 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t... |
OMIM:613390 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Cryptorchidism, Sensorineural hearing impairment, Alveolar r... |
OMIM:612938 |
Prader-Willi Syndrome Due To Translocation |
|
External genital hypoplasia, Prominent nose, Micrognathia, Clinodactyly, Downturned corners of mo... |
ORPHA:177907 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Hearing impairment, Cleft palate, Low-set ears, Clinodactyly, Short nos... |
OMIM:614261 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Lymphedema, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Ham... |
ORPHA:2930 |
Schwartz-Jampel Syndrome, Type 1 |
|
Pursed lips, Bowing of the long bones, Micromelia, Bowing of the legs, Coxa valga, Micrognathia, ... |
OMIM:255800 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Redundant skin, Carious teeth, Cutis laxa, Excessive wrinkled skin, High palate... |
OMIM:219200 |
Loeys-Dietz Syndrome 4 |
|
Arachnodactyly, Eosinophilic infiltration of the esophagus, High, narrow palate, Hyperextensible ... |
OMIM:614816 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Ab... |
ORPHA:1794 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Ambiguous genitalia, Talipes equinovarus |
OMIM:614209 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Hypospadias, Abnormality of the dentition, Tapered finge... |
ORPHA:65286 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Micr... |
OMIM:601812 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-... |
ORPHA:1915 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Broad nasal tip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Microtia, Short... |
OMIM:239800 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Posteriorly rotated ears, Micrognathia, C... |
OMIM:602398 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... |
OMIM:174300 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Eczema, Cutis laxa, Hyperkeratosis, Low-set ears, Dysphagia, Dry skin |
OMIM:612379 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula, Syndactyly, Depressed nasa... |
OMIM:129400 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Brachydactyly, Small scrotum, Depressed nasal bridge, Rocker bottom foo... |
OMIM:601353 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Edema, Pericardial effusion, Wide mouth, Low-set ears, Long philtrum, Sho... |
OMIM:608776 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Cryptorchidism, Micropenis, Low-set e... |
OMIM:614732 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Conducti... |
OMIM:164200 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormality of the dentition, Limb undergrowth, Abnormal metaphysis morphology, Dry skin |
ORPHA:177 |
Dpm1-Cdg |
|
Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, External genital hypoplasia, Micr... |
ORPHA:79322 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short phalanx of finger,... |
OMIM:601559 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Arachnodactyly, Camptodacty... |
ORPHA:83 |
Noonan Syndrome 7 |
|
Depressed nasal bridge, Large earlobe, Thick vermilion border, Impaired oropharyngeal swallow res... |
OMIM:613706 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Hiatus hernia, Ambiguous genitalia, female, Hyperextensible skin, Bicornuate uterus, Soft skin, S... |
OMIM:606408 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme... |
ORPHA:2639 |
Macs Syndrome |
|
Eclabion, Irregular dentition, Palpebral edema, Redundant skin, Hypergonadotropic hypogonadism, M... |
OMIM:613075 |
Bohring-Opitz Syndrome |
|
Polyhydramnios, Micrognathia, Gastroesophageal reflux, Dislocated radial head, Syndactyly, Depres... |
OMIM:605039 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Deep philtrum, High palate... |
OMIM:115150 |
Pseudoachondroplasia |
|
Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Irregular carpal bones... |
ORPHA:750 |
Distal Deletion 10Q |
|
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Hig... |
ORPHA:96148 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Ascites, Petechiae |
OMIM:619463 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Edema of the dorsum of feet, Edema of the dorsum of hands, Tapered finger, S... |
ORPHA:544503 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow... |
ORPHA:561 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Redundant neck skin, Anteverted nares, Rhizomelia, Micromelia, Abnormal th... |
ORPHA:1842 |
46,Xy Sex Reversal 4 |
|
Anteverted nares, Hypergonadotropic hypogonadism, Prominent nose, Micrognathia, Sensorineural hea... |
OMIM:154230 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Posteriorly rotated ears, Short nose, Sandal gap, Long philtrum |
OMIM:300887 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Metaphyseal... |
OMIM:613091 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, Hearing impairment, Cuppe... |
OMIM:618619 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Micropenis, Short phalanx of finger, Syndactyly, Short me... |
OMIM:263650 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, Abnormal ossificatio... |
ORPHA:1190 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ... |
OMIM:268305 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Micrognathia, Diastema, Cryptorc... |
OMIM:300534 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly... |
OMIM:605627 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat... |
OMIM:619493 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal ... |
ORPHA:245 |
Orofaciodigital Syndrome Type 6 |
|
Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly, Lobulated tong... |
ORPHA:2754 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Redundant skin, Polyhydramnios, Micromelia, Hearing impairment, Increased... |
ORPHA:2655 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Conical tooth, Cleft upper lip, Wide nasal bridge, Cleft p... |
OMIM:106260 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Sensorineur... |
ORPHA:560 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, External genital hypoplasia, Polyhydramnios, Micrognathia, Deep philtru... |
ORPHA:329178 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Celiac disease, Bulbous nose, ... |
ORPHA:284169 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hypoplasia of the radius, ... |
OMIM:617895 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Anteverted nares, Eczema, Prominent nasal bridge, Hypospadias, Congenital sensorineural hearing i... |
ORPHA:500159 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Po... |
ORPHA:990 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Non-midline cleft lip, Cleft pala... |
ORPHA:1770 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Mic... |
OMIM:257300 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig... |
OMIM:612313 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Toe syndactyly, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abno... |
OMIM:258865 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Micrognathia, Bilateral conductive hearing impairment, Low-s... |
OMIM:617802 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Ol... |
OMIM:617604 |
Gm1 Gangliosidosis |
|
Coarse metaphyseal trabecularization, Depressed nasal bridge, Camptodactyly of finger, Broad nasa... |
ORPHA:354 |
Recombinant 8 Syndrome |
|
Small scrotum, Depressed nasal bridge, Anteverted nares, Redundant skin, Cleft upper lip, Abnorma... |
ORPHA:96167 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Sensorineural hearing impairment, Cryptorchidism, Anosm... |
OMIM:612370 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Sensorineural ... |
OMIM:614207 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hydro... |
OMIM:620014 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit... |
ORPHA:90291 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Protruding ear, G... |
ORPHA:2031 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala... |
OMIM:616835 |
Apert Syndrome |
|
Cutaneous finger syndactyly, Choanal stenosis, Broad distal phalanx of the thumb, Bifid uvula, Sy... |
OMIM:101200 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian... |
ORPHA:95699 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Palmop... |
ORPHA:79409 |
Fryns Syndrome |
|
Bifid scrotum, Tented upper lip vermilion, Polyhydramnios, Proximal placement of thumb, Prominent... |
OMIM:229850 |
Schisis Association |
|
Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia |
ORPHA:63862 |
Trisomy 20P |
|
Micrognathia, Protruding ear, Downturned corners of mouth, Short philtrum, Microdontia, Low-set, ... |
ORPHA:261318 |
Kindler Epidermolysis Bullosa |
|
Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Short 5th metacarpal, Ab... |
ORPHA:2908 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, ... |
OMIM:247200 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Cutis laxa, Hydrocele testis, High palate, Long philtru... |
OMIM:605309 |
Campomelia, Cumming Type |
|
Death in infancy, Brachydactyly, Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetali... |
ORPHA:1318 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Micromelia, Monkey wrench femoral ne... |
OMIM:618870 |
Peho Syndrome |
|
Anteverted nares, Palpebral edema, Tapered finger, External ear malformation, Open mouth, Gingiva... |
ORPHA:2836 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Dysphagia, Narro... |
OMIM:226600 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Microphallus, Clinodac... |
OMIM:618454 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Redundant skin, Polyhydramnios, Micromelia, Hearing impairment, Increased... |
ORPHA:93274 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Short metacarpal, Brachydactyly, Micromelia, Metaphy... |
OMIM:184260 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Metatarsus adduct... |
OMIM:227330 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Micrognathia, Hypoplastic labia minora, Narrow palate, Micropenis, Downturned corn... |
OMIM:614222 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Co... |
ORPHA:894 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Esophageal stricture... |
ORPHA:89842 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Finger joi... |
OMIM:244200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, D... |
OMIM:615398 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of te... |
OMIM:608612 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Palpebral edema, Micromelia, Polyhydramnios, Long philtrum, Short nose, Adducte... |
ORPHA:50810 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Micrognathia, Missing ribs, Increased nuchal translucency, Depressed nasa... |
OMIM:608022 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue,... |
ORPHA:2167 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death |
OMIM:619817 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum... |
ORPHA:314655 |
Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, Dental crowding, Narrow nose, Hiatus hernia, Micrognathia, Hyperextensible skin... |
OMIM:619329 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abn... |
ORPHA:1798 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorch... |
ORPHA:2510 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Proximal placement of thumb, Micrognathia, High, narrow palate, Downturned corners of... |
OMIM:122470 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Redundant neck skin, Polyhydramnios, Lymphedema, Micr... |
OMIM:235255 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Micromelia, Hydrops fetalis, Stillbirth, Short ribs |
OMIM:600972 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Downt... |
ORPHA:531151 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose... |
OMIM:615803 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Erythema, Palmoplantar hyperkeratosis, Crusting erythematous dermatitis |
ORPHA:158673 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f... |
ORPHA:251071 |
Toluene Embryopathy |
|
Tapered finger, Micrognathia, Cryptorchidism, Protruding ear, Thin vermilion border, Low-set ears... |
ORPHA:1920 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Wid... |
OMIM:224410 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Short nose, Macrotia, Depressed nasal bridge |
ORPHA:99688 |
Leukocyte Adhesion Deficiency Type Ii |
|
Small earlobe, Depressed nasal bridge, Palpebral edema, Severe periodontitis, Protruding tongue, ... |
ORPHA:99843 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Choanal atresia, Polyhydramnios, Cleft palate, Cutis laxa, Rectovaginal f... |
OMIM:270420 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Protruding tongue, Micrognathia, Sensorineural hearing impairment, E... |
OMIM:608779 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... |
ORPHA:2750 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Finger syndactyly, Open bite, Skin ulcer, Gi... |
ORPHA:2907 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia... |
ORPHA:1908 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Eczema, Prominent nose, Cutis laxa, Protruding ear, Long philtrum |
OMIM:619691 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Abnormal pinna m... |
ORPHA:2839 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Anteverted nares, Redundant skin, Broad nasal tip, Carious teeth, Cutis laxa... |
ORPHA:357074 |
Cholesteryl Ester Storage Disease |
|
Pruritus, Esophageal varix |
ORPHA:75234 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Redundant skin, Polyhydramnios, Mi... |
ORPHA:1860 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Thin vermilion border, High palate, Low-set ears, Sho... |
OMIM:601853 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty... |
OMIM:300963 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p... |
ORPHA:93307 |
Tarp Syndrome |
|
Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger syndactyly, ... |
ORPHA:2886 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Protruding ear, Microdonti... |
OMIM:613458 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, Talipes equinova... |
OMIM:614815 |
Geleophysic Dysplasia 3 |
|
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Bulbous nose, Wide nasal bridge, Short ... |
OMIM:617809 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Lymphedema, Micrognathia, Metaphyseal widening, Abnormal finger morphology, Hyperextensible skin,... |
ORPHA:536471 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Tented upper lip verm... |
ORPHA:521426 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, M... |
OMIM:618021 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Choanal atresia, Abnormal nasal morphology, Non-midline cleft ... |
ORPHA:1104 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing... |
ORPHA:2021 |
Hypertrichosis Cubiti |
|
Rhizomelia, Prominent nasal bridge, Micromelia |
ORPHA:2220 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Arachnodactyly, Cryptorchidism, Wide nasal bridge, Abnormality of primary teeth, Gingiv... |
ORPHA:75496 |
Barber-Say Syndrome |
|
Redundant skin, Micrognathia, High palate, Widely spaced teeth, Clinodactyly of the 5th finger, A... |
OMIM:209885 |
Cleidocranial Dysplasia |
|
Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Clinodactyly of the 5th finger, Depre... |
ORPHA:1452 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Ambiguous genitalia, male, Clinodactyly of the 5th fin... |
OMIM:260660 |
Pycnodysostosis |
|
Prominent nose, Micrognathia, High palate, Rhizomelia, Persistence of primary teeth, Mesomelia, D... |
ORPHA:763 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia |
ORPHA:1514 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short metacarpal, Ov... |
OMIM:616723 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Polyhydramnios, Micrognathia, A... |
ORPHA:3472 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, Underdeveloped nasal alae, High, na... |
ORPHA:276432 |
Kleefstra Syndrome 1 |
|
Natal tooth, Anteverted nares, Abnormal pinna morphology, Hearing impairment, Protruding tongue, ... |
OMIM:610253 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Downturned corners of mouth, Hyperextensible... |
ORPHA:1185 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Prominent nose, Micrognathia, Tibial bowing, Limb undergrowth, Oligohydramnios |
ORPHA:453510 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ... |
OMIM:211350 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli... |
ORPHA:1848 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Large fleshy ears, High palate, Gastroesophageal reflux, Prominent su... |
ORPHA:280633 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... |
ORPHA:457395 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Hypogonadism, Scaling skin, Eclabion, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal septum, Protruding ear, Hig... |
OMIM:303600 |
Mass Syndrome |
|
Arachnodactyly, Striae distensae |
OMIM:604308 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Redundant skin, Pyloric stenosis, Lack of skin elasticity, Cutis laxa, Small bowel diverticula |
ORPHA:90349 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Abnormal thumb morphology, Bul... |
ORPHA:324410 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Small hand, Brachydactyly |
OMIM:618618 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Talipes equinovarus |
OMIM:616155 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Bulbous nose, Postaxial h... |
ORPHA:2752 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Hypospadias, Uplifted earlobe, 2-3 toe syndactyly, ... |
OMIM:616449 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Micrognathia, High palate, Gastroesophageal reflux, C... |
ORPHA:2059 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Abnormality of the dentition, Unilateral radial aplasia, Tapered fin... |
ORPHA:476126 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Exa... |
ORPHA:261494 |
Malan Syndrome |
|
Coxa valga, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advance... |
OMIM:614753 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Prominent nose, Downturned corners of mouth, Hyperkeratosis, Short philtrum,... |
OMIM:615510 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Bifid uvula |
OMIM:615706 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasa... |
OMIM:616430 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal fallopian tube morphology, Intestinal malrotation, Polyhydramnios, ... |
ORPHA:99776 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... |
OMIM:619005 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Tracheoesophag... |
OMIM:614083 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Acantholysis, Widely spaced toes, Neonatal death, Mitten def... |
OMIM:609638 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Underdeveloped nasal alae, Prominent nose, Precocious puberty, Sensorineural hearing ... |
ORPHA:2637 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Choanal atresia, Cleft upper lip, Conical tooth, Pyloric sten... |
OMIM:263750 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Posteriorly rotated ears, Broad nasal tip, Protruding tongue, Submucous cleft ha... |
OMIM:618106 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Gastroesophageal reflux, Clinodactyly of t... |
OMIM:616580 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Polyhydra... |
OMIM:600383 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Aganglionic megacolon, Polyhydramnios, Tapered finger, Wide nasal bridge, Hydr... |
OMIM:613603 |
Feingold Syndrome 1 |
|
Polyhydramnios, Micrognathia, High palate, Anteverted nares, Esophageal atresia, Short toe, Short... |
OMIM:164280 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose |
OMIM:618437 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Crypto... |
OMIM:613457 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ... |
ORPHA:95706 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Depressed nasal bridge, Femoral bowing, Cutis laxa, Genu valgum, Oligodontia, S... |
OMIM:618853 |
Achondrogenesis Type 2 |
|
Edema, Micromelia, Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequence, Short... |
ORPHA:93296 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Dysphagia |
ORPHA:216873 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Dysphagia, Sensorineural hearing impairment |
OMIM:158900 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Short tibia, Genu varum, Hypo... |
OMIM:607778 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po... |
OMIM:615109 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Polyhydramnios, Micromelia, Flared metaphysis, Short ribs, Neon... |
OMIM:187601 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Catel-Manzke Syndrome |
|
Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metac... |
OMIM:616145 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, ... |
ORPHA:3015 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca... |
OMIM:147891 |
Achondroplasia |
|
Depressed nasal bridge, Anteverted nares, Rhizomelia, Bowing of the legs, Short proximal phalanx ... |
ORPHA:15 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
Methimazole Embryofetopathy |
|
Hypospadias, Choanal atresia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Depressed nasal bridge, Edema, Polyhydramnios, Pericardial effusion,... |
ORPHA:363705 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Depressed nasal ridge, Protruding ear, Cutaneous syndacty... |
OMIM:618332 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Short ribs, Limb undergrowth, Abnormal metaphysis morpho... |
ORPHA:1803 |
Trisomy 10P |
|
Micrognathia, Orofacial cleft, High palate, Gastroesophageal reflux, Depressed nasal bridge, Ante... |
ORPHA:171929 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Coxa valga, Micrognathia, Long fingers,... |
OMIM:608149 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Polyhydramnios, ... |
OMIM:617157 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Tented upper lip vermilion, Eczema, High, narrow palate, Bulbous nos... |
ORPHA:488632 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Micrognathia, Long nose, Short phalanx of finger, Broad metacarpals, Short metaca... |
ORPHA:508533 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Clitoral hypertrophy, Depressed nasal bridge, Anteverted nares, Intesti... |
OMIM:244450 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Hyperextensible skin, High palate, Microdontia, Depressed nas... |
ORPHA:536467 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po... |
OMIM:615108 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Non-midline cleft lip, Postaxial hand polydactyly, Mal... |
ORPHA:2075 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Conductive hearin... |
ORPHA:199306 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Brachydactyly, Edema, Hydrops fetalis, Cutis laxa, Mac... |
ORPHA:79325 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Prolonged brainstem auditory evoked potentials, Tongue atrophy, Hammertoe, Talipes equinovarus, T... |
OMIM:601596 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Hypospadias, Microgna... |
OMIM:603736 |
Infantile Systemic Hyalinosis |
|
Short palm, Abnormality of the gastrointestinal tract, Abnormal dental morphology, Camptodactyly ... |
ORPHA:2176 |
Jacobsen Syndrome |
|
Long hallux, Broad columella, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad h... |
ORPHA:2308 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... |
OMIM:300912 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophageal atresia, Tr... |
OMIM:314390 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Edema, Postaxial polyda... |
OMIM:617527 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Anteverted nares, Abnormal dental enamel morph... |
ORPHA:2616 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Underfolded helix, Micrognathia, Short thumb, ... |
OMIM:268400 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Recurrent skin infections, Abnormality of the dentition,... |
ORPHA:158668 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Micrognathia, Gastroesophageal reflux, Micropenis, Cryptorchidism, Humer... |
OMIM:134780 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Anotia, High palate, Depressed nasal bridge, Anteverte... |
ORPHA:261112 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Depres... |
ORPHA:1512 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Choanal atresia, Camptodactyly of finger, E... |
ORPHA:3380 |
Dend Syndrome |
|
Anteverted nares, Thickened ears, Dehydration, Downturned corners of mouth, Long philtrum, Clinod... |
ORPHA:79134 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Wide nasal bridge, High palate, Limb undergrowth, Short nose |
OMIM:618005 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Esophageal atresia, Sensorineural hearing impairment, Cryptorchidism, Anosmi... |
ORPHA:3157 |
Trisomy 8P |
|
Short fourth metatarsal, Conductive hearing impairment, Clinodactyly of the 5th finger, Micropeni... |
ORPHA:264450 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Bowing of the legs |
ORPHA:156728 |
Cohen Syndrome |
|
Cryptorchidism, Finger syndactyly, Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal... |
ORPHA:193 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Metaphyseal widening, Short ribs, Metaphyseal cupping, Short nose |
OMIM:614524 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, ... |
OMIM:305450 |
Witteveen-Kolk Syndrome |
|
Polyhydramnios, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Clinodactyly,... |
OMIM:613406 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Hearing impairment, Abnormality of the dentition, Carious teeth, Malabsorpti... |
ORPHA:1775 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermap... |
ORPHA:2282 |
Rothmund-Thomson Syndrome Type 2 |
|
Long nose, Facial edema, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Short ph... |
ORPHA:221016 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio... |
OMIM:602535 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, High, narrow palate, Short philtrum, Male urethral meatus stenosis, F... |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Protruding ear, Oligodontia, High palate, Short philtrum, Micropenis, Depressed nas... |
OMIM:309590 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Hydrops fetalis, Large fleshy ears, Gastroesophageal reflux, Bifid... |
ORPHA:79328 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Cranioectodermal Dysplasia 4 |
|
Anteverted nares, Cutis laxa, Protruding ear, Taurodontia, Thin vermilion border, Cutaneous finge... |
OMIM:614378 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Lateral humeral condyle aplasia, Symphalangism affecting the... |
ORPHA:2741 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Uterus di... |
ORPHA:2491 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Palm... |
OMIM:257980 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Polyhydramnios, Micromelia,... |
OMIM:616546 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... |
ORPHA:261330 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl... |
ORPHA:96149 |
Deeah Syndrome |
|
Death in infancy, Overlapping fingers, Polyhydramnios, Malabsorption, Hearing impairment, Cryptor... |
OMIM:619004 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Swollen lip, Micromelia, Micrognathia, Calcaneovalgus deformity, Depressed nasal ... |
OMIM:256520 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Abnormality of the dentition... |
OMIM:271510 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, 2-3 toe cutaneous syndactyly, Femoral bowing,... |
OMIM:600920 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormal femur morphology, Abnorm... |
ORPHA:429 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Polyhydramnios, Proximal placement of thumb, Micrognathia, High ... |
ORPHA:3103 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Absent thumb, Esophageal atresia, Tracheoesopha... |
OMIM:300514 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Depressed nasal bridge, Redundant skin, Rhizomelia, Tibial bowing, Femoral bowing, Uterine leiomy... |
OMIM:616482 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Lymphedem... |
ORPHA:109 |
Lathosterolosis |
|
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand... |
ORPHA:46059 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Rhizomelia, Hearing impairment, Micrognathia, Bulbous nose, Clinodactyly,... |
OMIM:614114 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Carious teeth, Flared metaphysis, Glossoptosis, Delayed ossification of carpal bone... |
ORPHA:93346 |
Rabson-Mendenhall Syndrome |
|
Wide nose, Enlarged ovaries, Anteverted nares, Prominent nasal bridge, Dental crowding, Abnormali... |
ORPHA:769 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Polyhydramnios, Proximal placement of thumb, Micrognathia, Gastroesophageal ... |
ORPHA:818 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Coxa valga, Micrognathia, Bulbous nose, Thick lower l... |
OMIM:619297 |
Ogden Syndrome |
|
Redundant neck skin, Redundant skin, Lymphedema, Micrognathia, Deep philtrum, Protruding ear, Sho... |
OMIM:300855 |
Immunodeficiency 12 |
|
Skin rash, Esophageal stricture, Clubbing, Cheilitis, Death in adolescence, Recurrent aphthous st... |
OMIM:615468 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f... |
ORPHA:2633 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Long nose, Downturned... |
OMIM:618590 |
Ring Chromosome 7 Syndrome |
|
Short philtrum, Clinodactyly of the 5th finger, Small earlobe, Median cleft palate, Bifid uvula, ... |
ORPHA:1449 |
Carey-Fineman-Ziter Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Tapered finger, Micrognathia, Sensorin... |
OMIM:254940 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Hypoplasia of the ... |
ORPHA:2249 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Small scrotum, Choana... |
ORPHA:1300 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb... |
ORPHA:93351 |
Congenital Myopathy 22B, Severe Fetal |
|
Tented upper lip vermilion, Dental crowding, Nonimmune hydrops fetalis, Polyhydramnios, Tapered t... |
OMIM:620369 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Prominent nasal bridge, Proximal placement of thumb, Protruding tongue, Diastema, Co... |
OMIM:212066 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias, Micrognathia, Cutis laxa, Low-set ears, Ascites |
OMIM:301045 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract in... |
ORPHA:3078 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... |
OMIM:615726 |
Okamoto Syndrome |
|
Redundant neck skin, Tented upper lip vermilion, Downturned corners of mouth, Gastroesophageal re... |
ORPHA:2729 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... |
OMIM:619179 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Posteriorly rotated ... |
OMIM:300000 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Oste... |
ORPHA:2457 |
Hypoglossia With Situs Inversus |
|
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia |
OMIM:612776 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Micromelia, Coxa vara |
ORPHA:168555 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Depressed nasal bridge, Posteriorly rotated ears, Protruding tongue, Tapered finger, Prominent cr... |
OMIM:617804 |
Ollier Disease |
|
Precocious puberty, Abnormal metaphysis morphology, Skin ulcer, Micromelia |
ORPHA:296 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bifid nasal tip, Bilateral cleft lip and palate, High pala... |
OMIM:618874 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Ascites |
OMIM:232500 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Polyhydramnios, Cleft upper lip, Cleft palate, Wide... |
ORPHA:1394 |
Aspergillosis |
|
Nasal congestion, Pleural effusion, Eosinophilia, Abnormal esophagus morphology |
ORPHA:1163 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Protruding ear, Hyperextensible skin, High palate, Ecchymosis, Long philtrum, Microretrognathia, ... |
OMIM:601776 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, Mi... |
OMIM:615873 |
Ulbright-Hodes Syndrome |
|
Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Depressed nas... |
ORPHA:3404 |
Maternal Phenylketonuria |
|
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Wide nasal... |
ORPHA:2209 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Short ... |
ORPHA:63446 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Anteverted nares, Protruding tongue, Cryptorchidism, Downturned corners of m... |
ORPHA:96147 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Posteriorly rotated ears, Broad nasal tip, Sensor... |
OMIM:222448 |
Laron Syndrome |
|
Limb undergrowth |
OMIM:262500 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Overlapping toe, Polyhydram... |
OMIM:213980 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Brachydactyly, Depressed nasal bridge, Underdeveloped nasal alae, Tapered finger, Micrognathia, S... |
OMIM:616007 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Flared metaphysis, Vertebral hypoplasia, Coxa vara, Thin vermilion border, Short femo... |
OMIM:602557 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micromelia, Cryptorchidism, Ambiguous gen... |
ORPHA:2772 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Redundant skin, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodo... |
OMIM:612289 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Sensorineural hearing impairment, Wide nas... |
OMIM:300749 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Large hands, Abnormal metaphysi... |
ORPHA:1801 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Glossoptosis, High palate, Conductive hearing i... |
ORPHA:861 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Downturned corners of... |
ORPHA:199 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyl... |
ORPHA:158687 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Esophageal neoplasm, Sensorineural hearin... |
ORPHA:1018 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Tented upper lip vermilion, External genital hypoplasia, Polyhydramnios, Mic... |
ORPHA:96334 |
Greenberg Dysplasia |
|
Rhizomelia, Micromelia, Micrognathia, Lymphedema, Brachydactyly |
ORPHA:1426 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Micrognathia, High, narrow palate, High palate, Death in childhood, Ulnar de... |
OMIM:214100 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Low-s... |
ORPHA:175 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Aganglionic megacolon, Anteverted nares, Polyhydramnios, Hearing impai... |
ORPHA:3339 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Hypoplasia of penis, Camptoda... |
ORPHA:2008 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Conductive hearing impairment, Abnormal metaphysis morphology, Depressed nasal ... |
ORPHA:1861 |
Acrodermatitis Enteropathica |
|
Malabsorption, Pustule, Erythema, Abnormality of the tongue, Skin ulcer, Furrowed tongue, Cheilit... |
ORPHA:37 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po... |
OMIM:158350 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Eosinophilia, Esophageal stricture, Erythema, Sensorineural hearing im... |
OMIM:615816 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... |
ORPHA:2001 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of fingers, ... |
OMIM:175500 |
Familial Cervical Artery Dissection |
|
Striae distensae |
ORPHA:36382 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, Wide mouth, Low... |
OMIM:618797 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Cryptorchidism, Mi... |
OMIM:614225 |
Chand Syndrome |
|
Short fifth metatarsal, Depressed nasal bridge, Dry skin, Cleft palate, Agenesis of permanent tee... |
ORPHA:1401 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Underdeveloped nasal alae, Cryptorchidism, Increased n... |
ORPHA:453499 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Abnormal pinna morphology, Micromelia, Postaxial hand polydactyly, Hypoplasia ... |
OMIM:200995 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Aplastic clavicle,... |
ORPHA:2538 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Short metacarpal, Mixed hearing impairment, Anteverted nares, Bowed humerus, T... |
OMIM:272460 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Fraser Syndrome |
|
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Small scrotum, Orofacial cleft, High palate... |
ORPHA:2052 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Micrognathia, Cryptorchidis... |
ORPHA:3338 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Prominent nose, Micrognathia, Preaxial polydactyly, Femoral bowing, Short philtrum, G... |
OMIM:210710 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Redundant skin, Rocker bottom foot, Hiatus hernia, Coxa valga, Pyloric stenosis, ... |
ORPHA:3342 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Polyhydramnios, High, narrow palate, Clinodactyly of the 5th finger, Hepatob... |
ORPHA:373 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Proximal placement of thumb, Micrognat... |
OMIM:270400 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Bifid scrotum, Cryptorchidism, Hepatocellular adenoma, Cutis l... |
ORPHA:3134 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ... |
OMIM:610828 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Posteriorly rotated ears, Metaphyseal widening, Absent nasal bridge, Short finger, Me... |
OMIM:612813 |
Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Bowing of the legs, Polyhydramnios, Abnormality of the dentition, S... |
OMIM:241500 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Hypogonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fist... |
OMIM:301030 |
Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Eczema, Abnormal oral mucosa morphology, Und... |
OMIM:305100 |
Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Hearin... |
OMIM:601088 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastroesophage... |
OMIM:301044 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epiphyses ... |
ORPHA:93357 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Clinodactyly, Sensorineural h... |
OMIM:616541 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Alveolar bone loss around teeth, Arachnodactyly, Hiatus hernia, Intestinal perforation, Hyperexte... |
OMIM:130080 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Narrow nasal ridge, Cryptorchidism, Cutis laxa, Hyperextensible skin, Talipes equinovarus, Low-se... |
OMIM:219150 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, A... |
ORPHA:474 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M... |
ORPHA:1071 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Greenberg Dysplasia |
|
Polyhydramnios, Micromelia, Micrognathia, Depressed nasal ridge, Hydrops fetalis, Tetraphocomelia... |
OMIM:215140 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Broad nasal tip, Epiphyseal stippling of toe phalanges, Abnormal ossifi... |
ORPHA:79345 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Cl... |
ORPHA:1106 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Abnormalit... |
OMIM:612394 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Triangular mouth, Protruding ear, Talipes equinovarus, Low-set ears, Hand... |
OMIM:617988 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Micrognathia, Hyperextensible skin, Microdontia, Prominent antitragus, Dislocated radial head, Mi... |
OMIM:245600 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Female pseudohermaphroditism, Cryptorchidism, Short to... |
ORPHA:1519 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Anteriorly placed anus, Cutaneous finger s... |
OMIM:151050 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplastic frontal sinuses, Cleft pa... |
ORPHA:391474 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Malabsorption, Sensorineural hearing impairment... |
ORPHA:47 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Contracture... |
ORPHA:457279 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Anteverted nares, Dental crow... |
ORPHA:261323 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Clinodactyly, Syndactyly, Short nose, Anteverted ears |
OMIM:618087 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macro... |
ORPHA:2483 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Wide mouth... |
OMIM:300661 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Low-set ears, Long philtrum, Short nose, ... |
OMIM:103050 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi... |
OMIM:619227 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hy... |
ORPHA:1465 |
Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Posteriorly rotated ears, T... |
ORPHA:1272 |
Degcags Syndrome |
|
Polyhydramnios, Prominent nose, Micrognathia, Oral-pharyngeal dysphagia, High palate, Pallor, Gas... |
OMIM:619488 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal... |
ORPHA:974 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyl... |
OMIM:617866 |
Fibular Hemimelia |
|
Finger syndactyly, Toe syndactyly, Short femur, Abnormal morphology of ulna, Bowing of the legs, ... |
ORPHA:93323 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate, Gastroesoph... |
ORPHA:313892 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Bulbous nose, Sensorineural hearing impairm... |
ORPHA:250989 |
Harel-Yoon Syndrome |
|
Short nose, Micrognathia |
OMIM:617183 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Short palm, Depressed nasal bridg... |
ORPHA:93271 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Low-set, posteriorly rotated ears, Rhizomelia, Posteriorly rotated ears, Absent nasal bridge, Mes... |
ORPHA:171866 |
Esophageal Atresia |
|
Barrett esophagus, Abnormal external genitalia, Choanal atresia, Polyhydramnios, Intestinal malro... |
ORPHA:1199 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Hyperextensible ... |
OMIM:619950 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Carpal synostosis, Bowing of the long bones, Flared metaphysis, Advanced ossification of carpal b... |
OMIM:615349 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Protruding ear,... |
ORPHA:453504 |
Pallister-Hall Syndrome |
|
Small scrotum, Depressed nasal ridge, Micropenis, Bifid uvula, Aplasia/hypoplasia of the uterus, ... |
ORPHA:672 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Protruding ear,... |
ORPHA:352665 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Gingival overgrowth, Dysphagia, Hypoplastic vertebral bodies, Narr... |
OMIM:230600 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Dental crowding, Broad hallux, Sandal gap, Hearing impairmen... |
OMIM:616078 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Micrognathia, Femoral bowing, Clinodac... |
OMIM:274000 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Tibial bowing, Hypoplasia of first ribs, Choanal ... |
OMIM:269150 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Gi... |
OMIM:607330 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Skin rash, Tracheoesophageal fistula, Microtia, High palate, Talipes eq... |
OMIM:277380 |
Chops Syndrome |
|
Anteverted nares, Hearing impairment, High, narrow palate, Cryptorchidism, Downturned corners of ... |
OMIM:616368 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Rhizomelia, Tapered finger, Clinodactyl... |
ORPHA:319182 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Microd... |
ORPHA:1896 |
Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gastroesophageal... |
OMIM:117650 |
Stromme Syndrome |
|
Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Micrognathia, Preaxial polydacty... |
OMIM:243605 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Ctcf-Related Neurodevelopmental Disorder |
|
Short philtrum, Joint contracture of the 5th finger, Gastroesophageal reflux, Prominent fingertip... |
ORPHA:363611 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose |
OMIM:613038 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Pyloric stenosis, Promin... |
OMIM:614438 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Mic... |
OMIM:613610 |
Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial club hand, Esophageal str... |
OMIM:617053 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Eczema, Allergic rhinitis, 2-3 toe syndactyly, High palate, Mesomelia, Clinodactyly o... |
OMIM:618162 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Icf Syndrome |
|
Depressed nasal bridge, Malabsorption, Protruding tongue, Micrognathia, Macroglossia, Low-set ears |
ORPHA:2268 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Overfolded helix, Low-set ears, Narrow mouth, Short nose |
OMIM:613735 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thumb morphology, Cryptorchidi... |
ORPHA:2719 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
Arterial Tortuosity Syndrome |
|
Soft, doughy skin, Arachnodactyly, Hiatus hernia, Micrognathia, Cutis laxa, Bifid uvula, Hyperext... |
OMIM:208050 |
Osteogenesis Imperfecta, Type Ii |
|
Limb undergrowth, Nonimmune hydrops fetalis, Convex nasal ridge, Tibial bowing |
OMIM:166210 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Peters Plus Syndrome |
|
Polyhydramnios, Micromelia, Micrognathia, Clitoral hypoplasia, Widely spaced teeth, Clinodactyly ... |
ORPHA:709 |
Coach Syndrome 1 |
|
Wide mouth, Postaxial hand polydactyly, Esophageal varix, Anteverted nares |
OMIM:216360 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti... |
ORPHA:90154 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Pruritus, Esophageal varix, Gastric varix, Hepatocellular carcinoma,... |
ORPHA:64743 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Underdeveloped nasal alae, Abnormality of the dentition, High, narr... |
ORPHA:2108 |
Jacobsen Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Missing ribs, Pyloric stenos... |
OMIM:147791 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Polyhydramnios, Lymphedema, Dumbbel... |
ORPHA:3144 |
Ramos-Arroyo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Carious teeth, Xerostomia, Conca... |
ORPHA:1051 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Redundant skin, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal finger mor... |
ORPHA:2658 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Anteverted nares, Hypospadias, Cleft ... |
ORPHA:2745 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Polyhydramnios, Micrognathia, Downturned corners of mouth, Choanal stenosis, Gast... |
OMIM:620186 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Small scrotum, Micrognathia, Widely-spaced maxillary central incisors... |
OMIM:309580 |
Coxoauricular Syndrome |
|
Micromelia, Abnormal femur morphology, Microtia, Atresia of the external auditory canal, Hearing ... |
ORPHA:1508 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Death in infancy, Polyhydramnios, Oral mucosal blisters, Esophageal atresia, Congenital pyloric a... |
OMIM:226730 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Edema, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Microdontia, Clinodactyl... |
OMIM:266920 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Anteverted nares, Dental crowding, Overlapping toe, Broad nasal tip, Bilateral cryptorchidism, Py... |
OMIM:617402 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia,... |
OMIM:618820 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Redundant skin, Micrognathia, High, narrow palate, Thic... |
OMIM:230740 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Metaphyseal widening, Advanced ossification o... |
OMIM:224400 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Prominent fingertip pads, Depressed nasal brid... |
OMIM:277590 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sensorineural hearing impairment, Furrowed tongue, Hyperkera... |
OMIM:148210 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choanal stenosis... |
ORPHA:798 |
Zttk Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Submucous cleft hard palate, Small hand, Wi... |
OMIM:617140 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Micrognathia, Ambiguous genitalia, female, Lobulated tongue, Ambiguo... |
OMIM:249000 |
Wolman Disease |
|
Ascites, Esophageal varix, Steatorrhea |
ORPHA:75233 |
Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Micrognathia, Upper limb undergrowth, Cleft palate, Genu valgum, Glossoptosis, Short... |
ORPHA:94068 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Small earlob... |
OMIM:619522 |
Pelviscapular Dysplasia |
|
Redundant neck skin, Short femur, Abnormal pinna morphology, Hearing impairment, Hypoplastic scap... |
ORPHA:93333 |
Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, High palate, Striae distensae |
OMIM:619656 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology |
ORPHA:2357 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Premature thelarche, Protruding ear, Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hy... |
ORPHA:268261 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormal parotid gland morphol... |
ORPHA:252164 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Micromelia, Cutis laxa, Thin vermilion border, Long philtru... |
OMIM:614800 |
Scarf Syndrome |
|
Bifid scrotum, Posteriorly rotated ears, Prominent nasal bridge, Cryptorchidism, Wide nasal bridg... |
OMIM:312830 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Micropenis, Ascites, Ankyloglossia, Brachydactyly |
OMIM:602361 |
Opsismodysplasia |
|
Depressed nasal bridge, Tapered finger, Hypoplastic vertebral bodies, Short nose, Abnormal metaph... |
ORPHA:2746 |
Stickler Syndrome |
|
Micrognathia, Depressed nasal ridge, Glossoptosis, Gastroesophageal reflux, Advanced eruption of ... |
ORPHA:828 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Palmoplantar hyperkeratosis, Furrowed tongue |
ORPHA:140936 |
Hartnup Disease |
|
Glossitis, Skin rash, Gingivitis, Malabsorption |
ORPHA:2116 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, Co... |
ORPHA:444077 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Broad hallux, Polyhydramnios, Protruding tongue, Micr... |
OMIM:617062 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Gingivitis, Palmoplantar hyperkerato... |
OMIM:173650 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia, Choanal stenosis, Micrognathia |
OMIM:241310 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Gastroesophageal reflux |
ORPHA:79243 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Abnormal pinna morpholog... |
OMIM:616975 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Depressed nasal bridge, Broad hallux, Bowed hum... |
OMIM:618019 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Short palm, Clin... |
ORPHA:2636 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Short palm, Hepatoblastoma, Posterior helix pit, Exaggerated median tongue furrow... |
OMIM:312870 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Hypospadias, Hearing impairment, Abnormality of the dentition, Broad na... |
ORPHA:1596 |
Schwartz-Jampel Syndrome |
|
Polyhydramnios, Micromelia, Micrognathia, Coxa vara, High palate, Low-set, posteriorly rotated ea... |
ORPHA:800 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Ovarian neoplasm |
ORPHA:2221 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Fetal ascites, Prominent nose, Microgna... |
OMIM:619503 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia |
ORPHA:93283 |
Immunodeficiency 49 |
|
Natal tooth, Psoriasiform dermatitis, Posteriorly rotated ears, Eosinophilia, Micrognathia, Cutis... |
OMIM:617237 |
Agel Amyloidosis |
|
Tongue atrophy, Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin, Hearing impa... |
ORPHA:85448 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Thickened ears, O... |
ORPHA:77301 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Hypogonado... |
OMIM:603457 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Short nose, Micrognathia |
ORPHA:496790 |
Restrictive Dermopathy 1 |
|
Natal tooth, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, Polyhydramnios, Rocker ... |
OMIM:275210 |
Congenital Sialidosis Type 2 |
|
Edema, Protruding tongue, Gingival overgrowth, Polydactyly, Low-set ears, Ascites, Petechiae, Hea... |
ORPHA:93400 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Erythematous oral mucosa, Chronic mucocutaneous candidiasis, Furrowed tongue, Melen... |
OMIM:158310 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Facial erythema, Ecchymosis, Striae distensae, Purpura |
OMIM:219090 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia, Hearing impairment |
OMIM:256600 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... |
OMIM:619426 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Esophageal atresia, Cryptorchidism, Tracheoes... |
ORPHA:77298 |
Progeroid Syndrome, Petty Type |
|
Low-set, posteriorly rotated ears, Redundant skin, Cutis laxa, Tooth agenesis, Everted lower lip ... |
ORPHA:2963 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Pol... |
OMIM:614557 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Protruding ear, C... |
OMIM:614976 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... |
ORPHA:131 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Polyhydramnios, Micrognathia, Esophageal atresia, ... |
ORPHA:3412 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, T... |
OMIM:604292 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal oral mucosa morphology, Micromelia, Abnormality ... |
ORPHA:289 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Shor... |
OMIM:266810 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Sensorineural hearing impairment, Narrow nar... |
OMIM:122880 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Small, conical teeth, Adducted thumb, Coxa vara, Cutis... |
ORPHA:2962 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... |
OMIM:219000 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, True hermaphroditism, Aplasia/Hypopl... |
ORPHA:564 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, An... |
ORPHA:2250 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, T... |
OMIM:129900 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, M... |
OMIM:250250 |
Meester-Loeys Syndrome |
|
Arachnodactyly, Gingival overgrowth, High palate, Broad distal phalanx of finger, Camptodactyly, ... |
OMIM:300989 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Depressed nasal bridge, Arachnodactyly, Abnormal pinna morphology, Micrognathia, Bulbous nose, Ol... |
OMIM:614437 |
Omodysplasia 1 |
|
Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Micrognathia, Cryp... |
OMIM:258315 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Ascites, Esophageal varix, Nonimmune hydrops fetalis, Polyhydramnios |
ORPHA:367 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Abnormal carpal morphology, Limb undergrowth, Microtia, Clinodactyly of the 5th f... |
ORPHA:319675 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Arachnodactyly, Eczema, O... |
ORPHA:83617 |
Carney Complex |
|
Neoplasm of the stomach, Leydig cell neoplasia, Ovarian serous cystadenoma, Precocious puberty, N... |
ORPHA:1359 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Broad hallux, Deviation of the hallux, Acce... |
ORPHA:434179 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Micrognathia, Short middle phalanx of the 2nd finger, Esophageal... |
ORPHA:391641 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Ecchymosis, Short nose, Epistaxis, Short distal phalanx of finger |
OMIM:277450 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Cleft soft palate, Intestinal malrotation, Genu valgum, Downturned cor... |
OMIM:619321 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Sandal gap, Redundant skin, Micrognathia, Periorbital edema, Pyloric stenosis, ... |
OMIM:613177 |
Hereditary Folate Malabsorption |
|
Eosinophilia, Cheilitis, Gastroesophageal reflux, Pallor, Glossitis |
ORPHA:90045 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Micromelia, Deep philtrum, L... |
ORPHA:1675 |
Penile Agenesis |
|
Depressed nasal bridge, Posteriorly rotated ears, Rectal fistula, Cryptorchidism, Anorectal anoma... |
ORPHA:49 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Hypoplasia of proximal radius, Mesomelia, Meta... |
ORPHA:85170 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Choanal stenosis, Scaling skin, Death in childhood, Neonatal death, Subungual hyperkeratosis, Dea... |
OMIM:308205 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Hearing impairment, Enlarged polycystic ovaries... |
ORPHA:201 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Baller-Gerold Syndrome |
|
Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenosis, High palate, Conduct... |
OMIM:218600 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Cryptorchid... |
OMIM:609942 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal pinna morphology, Broad nasal tip, Small hand, Depressed nasal tip, Short foot, Micropen... |
ORPHA:488434 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Pyloric stenosis, Ti... |
OMIM:613848 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
Limb-Mammary Syndrome |
|
Syndactyly, Psoriasiform dermatitis, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cut... |
ORPHA:69085 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Tooth agenesis, Mesom... |
OMIM:616229 |
Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Phalangeal dislocation, Hiatus hernia, Rectal prolapse, Cervical insufficiency,... |
ORPHA:287 |
Pontocerebellar Hypoplasia, Type 2E |
|
Large earlobe, Wide nose, Short nose, Micrognathia |
OMIM:615851 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Overlapping toe, Rocker bottom foot, Hearing impairment, Tapered finger, 4-5 t... |
ORPHA:488642 |
Becker Nevus Syndrome |
|
Hypoplastic labia minora, Abnormal tibia morphology, Abnormality of the scrotum, Micromelia |
ORPHA:64755 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia |
ORPHA:1765 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Orofacial cleft, High palate, Uterine rupt... |
ORPHA:60030 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Esophageal atresia, S... |
OMIM:227646 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, Microdontia, Oral leukoplakia |
OMIM:224230 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Low-set ears, Absent thumb |
OMIM:615272 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Bowing of the legs, Dental malocclus... |
ORPHA:1855 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Microtia, third degree, Redundant skin, Ambiguous genitalia, Ab... |
OMIM:200110 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia, Hearing impairment |
OMIM:614153 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Tented upper lip vermilion, Small scrotum, Polyhydramnios, Micrognat... |
OMIM:601803 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Macrotia, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Protruding tongue, Micrognat... |
OMIM:619777 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Brachydactyly, Arachnodactyly, Eosinophilic infiltration of the esophagus, Postaxial ... |
OMIM:610168 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Aphthous ulcer, Esophageal varix, Oral ulcer, Skin ulcer, Re... |
OMIM:615688 |
Multiple Osteochondromas |
|
Deformed radius, Intestinal obstruction, Short metacarpal, Bowing of the long bones, Abnormal mor... |
ORPHA:321 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, Low-set ears, D... |
OMIM:600460 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Polyhydramnios, Uplifted earlobe, Micrognathia, Short philtrum, Widely s... |
OMIM:619841 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal pinna morphology, Hypospadias, Polyhydramnios, Micrognathia, Bifid ute... |
OMIM:236680 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Sensorineural hearing impairment, Death in childhood, Tongue fasciculations, Dysp... |
OMIM:211530 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Narrow nasal tip, Eczema, Prominent nasal bridge, Arachnodactyly, ... |
ORPHA:464306 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae |
OMIM:620133 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Striae distensae |
OMIM:610475 |
Chronic Graft Versus Host Disease |
|
Esophageal ulceration, Phimosis, Esophageal stricture, Erythema, Xerostomia, Abnormal vagina morp... |
ORPHA:99921 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia, Hearing impairment |
ORPHA:276198 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Toe clinodactyly, Small scrotum, Sandal gap, Eczema, Posteriorly rotate... |
OMIM:620330 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Short foot, Short palm, Short nose, Smooth philtrum, Long philtrum |
OMIM:614185 |
Aortic Aneurysm, Familial Thoracic 10 |
|
High palate, Dental crowding, Striae distensae |
OMIM:617168 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Posteriorly rotated ears, Abnorma... |
ORPHA:506358 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Oral leukoplakia, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:613989 |
Charge Syndrome |
|
External genital hypoplasia, Polyhydramnios, Micrognathia, Hand monodactyly, Micropenis, Hypoplas... |
OMIM:214800 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Pruritus, Esophageal varix |
OMIM:619662 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Micr... |
OMIM:615948 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Depressed nasal bridge, Dental crowding, Arachnodactyly, Excessive w... |
OMIM:225400 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Talipes equinovarus, Dysphagia |
OMIM:617114 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Esophageal varix, Brachydactyly |
OMIM:616028 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios |
OMIM:263200 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, High, narrow palate, Protruding ear, Short philtrum, High palate, Micropenis, Ante... |
OMIM:619475 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing |
OMIM:608728 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Intestinal malrotation, Micrognathia, Eso... |
OMIM:265380 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Skin rash, Glossitis, Cleft palate |
ORPHA:79284 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, G... |
ORPHA:522077 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Micrognathia, Conductive hearing impairment, Cleft palate, Glossoptosis, Atresi... |
ORPHA:1393 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Recurrent skin infections, Anal fissure, Oral mucosal blisters, Carious t... |
ORPHA:79408 |
Cholesteryl Ester Storage Disease |
|
Death in infancy, Esophageal varix, Steatorrhea |
OMIM:278000 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, Hyperextensible skin, High ... |
OMIM:619472 |
Giant Cell Arteritis |
|
Epistaxis, Recurrent pharyngitis, Skin ulcer, Gastrointestinal infarctions, Conductive hearing im... |
ORPHA:397 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Pedal edema, Palmoplantar pustulosis, Erythroderma, Geographic tongue |
ORPHA:247353 |
Mesomelic Dysplasia, Savarirayan Type |
|
Mesomelia, Short tibia, Dislocated radial head, Fibular aplasia |
OMIM:605274 |
Occipital Horn Syndrome |
|
Short humerus, Redundant skin, Hiatus hernia, Coxa valga, Capitate-hamate fusion, Genu valgum, Hy... |
OMIM:304150 |
Aspartylglucosaminuria |
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Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, Malabsorption, Wide nas... |
ORPHA:93 |
Marfan Syndrome |
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Dental crowding, Arachnodactyly, Equinus calcaneus, Metatarsus adductus, Micrognathia, Narrow pal... |
OMIM:154700 |
Cadds |
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Short nose, Micrognathia, Sensorineural hearing impairment |
ORPHA:369942 |
Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Bowing of the legs, Metaphyseal widening, Flared metaphysis, Limb undergrowth, Fibular overgrowth... |
ORPHA:93352 |
Neonatal Marfan Syndrome |
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Long toe, Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Wide nasal bridge, Cut... |
ORPHA:284979 |
Marfan Syndrome |
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Dental crowding, Arachnodactyly, Micrognathia, Open bite, High, narrow palate, Cleft palate, Stri... |
ORPHA:558 |
Khan-Khan-Katsanis Syndrome |
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Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Sensorineural hearing impairment... |
OMIM:618460 |
Williams Syndrome |
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Hypoplasia of penis, Redundant skin, Micrognathia, Periorbital edema, Rectal prolapse, Protruding... |
ORPHA:904 |
8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Micromelia, Cleft maxillary alveolar ridge, Finger clinodactyly, Gastroesophageal... |
ORPHA:508488 |
Joubert Syndrome 1 |
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Anteverted nares, Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macr... |
OMIM:213300 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Arachnodactyly, Dental crowding, Esophageal varix, Genu valgum, High... |
ORPHA:394 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Recurrent skin infections, Oral mucosal blisters, Erythema, Palmoplantar keratoderma, Smooth tong... |
ORPHA:79396 |
Cushing Disease |
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Acne, Intra-oral hyperpigmentation, Pedal edema, Skin ulcer, Recurrent cutaneous fungal infection... |
ORPHA:96253 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
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Spontaneous esophageal perforation |
OMIM:277320 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Esophageal stenosis, Colitis |
OMIM:615190 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Striae distensae |
OMIM:219080 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
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Short metacarpal, Micromelia, Male pseudohermaphroditism, Macrotia, Short phalanx of finger |
ORPHA:1422 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Neonatal death, Short nose, Thick vermilion border, Long philtrum |
OMIM:252160 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Acne, Striae distensae |
ORPHA:189427 |
Tetraamelia Syndrome 1 |
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Hypoplasia of the fallopian tube, Choanal atresia, Cleft upper lip, Micrognathia, Absent external... |
OMIM:273395 |
Cutis Laxa, Autosomal Dominant 3 |
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Dermal translucency, Cutis laxa, Protruding ear, Talipes equinovarus, Low-set ears, Premature ski... |
OMIM:616603 |
Aneurysm-Osteoarthritis Syndrome |
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Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of finger, Dental m... |
ORPHA:284984 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue |
ORPHA:98795 |
Roberts-Sc Phocomelia Syndrome |
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Polyhydramnios, Micrognathia, Tetraphocomelia, High palate, Phocomelia, Syndactyly, Hypoplasia of... |
OMIM:268300 |
Trichorhinophalangeal Syndrome, Type Ii |
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Chronic gastritis, Prominent nose, Micrognathia, Bilateral cryptorchidism, Deep philtrum, Protrud... |
OMIM:150230 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Pruritus, Celiac disease, Hematemesis, Esophageal vari... |
OMIM:301068 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Depressed nasal bridge, Arachnodactyly, Submucous cleft soft palate, Absent thumb, Gastrointestin... |
ORPHA:500150 |
Loeys-Dietz Syndrome 3 |
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Uterine prolapse, Arachnodactyly, Eosinophilic infiltration of the esophagus, Cystocele, Dental m... |
OMIM:613795 |
Nivelon-Nivelon-Mabille Syndrome |
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Short metacarpal, Micromelia, Male pseudohermaphroditism, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Juvenile Sialidosis Type 2 |
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Protruding tongue, Gingival overgrowth, Low-set ears, Dysphagia, Hearing impairment |
ORPHA:93399 |
Geroderma Osteodysplasticum |
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Hyperextensibility of the finger joints, Neonatal wrinkled skin of hands and feet, Cutis laxa, Fe... |
OMIM:231070 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Spontaneous, recurrent epistaxis, Sensorineural hearing impairment, Esophageal var... |
ORPHA:2072 |
Cirrhosis, Familial |
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Ascites, Esophageal varix |
OMIM:215600 |
Wrinkly Skin Syndrome |
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Delayed eruption of teeth, Broad nasal tip, Carious teeth, Cryptorchidism, Excessive skin wrinkli... |
ORPHA:2834 |
Angelman Syndrome Due To A Point Mutation |
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Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue |
ORPHA:411511 |
Osteogenesis Imperfecta |
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Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal tibia morphol... |
ORPHA:666 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Intra-oral hyperpigmentat... |
ORPHA:99889 |
Cardiospondylocarpofacial Syndrome |
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Carpal synostosis, Decreased testicular size, Anteverted nares, Tarsal synostosis, Posteriorly ro... |
OMIM:157800 |
1P21.3 Microdeletion Syndrome |
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Micrognathia, Broad nasal tip, Wide mouth, Long ear, Short nose |
ORPHA:293948 |
Pyknoachondrogenesis |
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Palpebral edema, Micromelia, Depressed nasal ridge, Abnormality of mouth shape, Short ribs, Low-s... |
ORPHA:3003 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Difficulty in tongue movements, Tongue atrophy, Penetrating foot ulcers, Sensorineural hearing im... |
ORPHA:99956 |
Stevens-Johnson Syndrome |
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Gastrointestinal hemorrhage, Acantholysis, Esophageal stricture, Erythema, Dysphagia |
ORPHA:36426 |
Williams-Beuren Syndrome |
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Rectal prolapse, Gastroesophageal reflux, Clinodactyly of the 5th finger, Microdontia, Micropenis... |
OMIM:194050 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Micrognathia, Depressed nasal ridge, Esophageal ... |
ORPHA:731 |
Vater/Vacterl Association |
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Syndactyly, Abnormal nasopharynx morphology, Hypospadias, Choanal atresia, Absent radius, Esophag... |
OMIM:192350 |
Down Syndrome |
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Redundant neck skin, Aganglionic megacolon, Sandal gap, Protruding tongue, Conductive hearing imp... |
OMIM:190685 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Tongue atrophy, Flexion contracture of finger, Sensorineural... |
ORPHA:101085 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Striae distensae |
OMIM:610489 |
Cutis Laxa, Autosomal Recessive, Type Iid |
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Redundant skin, Bilateral cryptorchidism, Bulbous nose, Wide nasal bridge, Cutis laxa, Protruding... |
OMIM:617403 |
Caroli Disease |
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Pruritus, Cholangiocarcinoma, Ascites, Esophageal varix |
ORPHA:53035 |
Progeroid Short Stature With Pigmented Nevi |
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Irregular dentition, Hypospadias, Allergic rhinitis, Sensorineural hearing impairment, Chordee, H... |
OMIM:176690 |
Glucagonoma |
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Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Necrolytic migratory erythema, Pr... |
ORPHA:97280 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Esophageal varix, Hepatocellular adenoma, Polycystic ovaries |
ORPHA:264580 |
Wilson Disease |
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Edema, Esophageal varix, Pedal edema, Dysphagia, Hepatocellular carcinoma, Hyposmia, Ascites |
OMIM:277900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Small scrotum, Intestinal malrotation, Esophageal varix, Anasarca, High palate, Gastroesophageal ... |
OMIM:613658 |
Cutis Laxa, Autosomal Dominant 1 |
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Redundant skin, Cutis laxa, Hyperextensible skin, Long philtrum, Uterine prolapse, Convex nasal r... |
OMIM:123700 |
Angelman Syndrome |
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Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue |
OMIM:105830 |
Adrenocortical Carcinoma |
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Striae distensae |
ORPHA:1501 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Hand clenching, Hearing impairment, Protruding tongue |
OMIM:619580 |
Barrett Esophagus |
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Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration |
OMIM:614266 |
Stüve-Wiedemann Syndrome |
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Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Meta... |
ORPHA:3206 |
Angelman Syndrome |
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Abnormality of the gastrointestinal tract, Precocious puberty in females, Protruding tongue, Wide... |
ORPHA:72 |
Developmental And Epileptic Encephalopathy 31B |
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Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:620352 |
Imerslund-Gräsbeck Syndrome |
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Glossitis, Pallor, Angular cheilitis |
ORPHA:35858 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
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Abnormal dental morphology, Eczema, Premature loss of primary teeth, Abnormality of the dentition... |
ORPHA:1810 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Macroglossia, Short nose, Thick vermilion border, Recurrent gastroenteritis |
ORPHA:505248 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue |
ORPHA:98794 |
Pitt-Hopkins-Like Syndrome 2 |
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Wide mouth, Gastroesophageal reflux, Protruding tongue |
OMIM:614325 |
Ankyloglossia With Or Without Tooth Anomalies |
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Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Charcot-Marie-Tooth Disease Type 4C |
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Tongue atrophy, Sensorineural hearing impairment, Hammertoe, Tongue fasciculations, Difficulty in... |
ORPHA:99949 |
Hereditary Hemorrhagic Telangiectasia |
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Intestinal polyposis, Esophageal varix, Epistaxis, Gastrointestinal hemorrhage |
ORPHA:774 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
Microphthalmia, Syndromic 3 |
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Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Esophageal atresia, Sensorineural heari... |
OMIM:206900 |
Microphthalmia, Syndromic 6 |
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Small scrotum, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Clinodactyly of the 5... |
OMIM:607932 |
Lysosomal Acid Lipase Deficiency |
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Pruritus, Esophageal varix, Dehydration, Steatorrhea, Ascites |
ORPHA:275761 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Edema, Abnorm... |
ORPHA:79404 |
Kawasaki Disease |
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Skin rash, Edema, Recurrent pharyngitis, Cheilitis, Palmoplantar erythema, Glossitis |
ORPHA:2331 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Syndactyly, Depressed nasal bridge, Anteverted nares, Edema, Polyhydramnios, Postaxial polydactyl... |
OMIM:619534 |
Lipodystrophy, Familial Partial, Type 7 |
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Facial wrinkling, Narrow nasal ridge, Dysphagia, Pleural effusion, Low-set ears, Narrow mouth, Sh... |
OMIM:606721 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Tongue atrophy, Atopic dermatitis, Congenital finger flexion contractures, Flexion contracture of... |
ORPHA:466768 |
Autosomal Dominant Cutis Laxa |
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Redundant neck skin, Redundant skin, Adducted thumb, Cutis laxa, Increased number of skin folds, ... |
ORPHA:90348 |
Multiple Endocrine Neoplasia Type 2 |
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Cervical neoplasm, Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Thic... |
ORPHA:653 |
Caroli Syndrome |
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Cholangiocarcinoma, Pruritus, Hematemesis, Esophageal varix, Melena |
ORPHA:480520 |
X-Linked Dystonia-Parkinsonism |
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Impaired oropharyngeal swallow response, Protruding tongue |
ORPHA:53351 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
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Ankyloglossia |
OMIM:619352 |
Arima Syndrome |
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Wide mouth, Postaxial foot polydactyly, Esophageal varix, Postaxial hand polydactyly |
OMIM:243910 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Oligohydramnios, Arachnodactyly, Redundant skin, Cutis laxa |
OMIM:219100 |
Plague |
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Chapped lip, Skin rash, Edema, Erythema nodosum, Hematemesis, Enterocolitis, Skin ulcer, Inflamma... |
ORPHA:707 |
Bilateral Perisylvian Polymicrogyria |
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Choanal atresia, Micrognathia, Protruding tongue, Pseudobulbar paralysis, Gastroesophageal reflux... |
ORPHA:98889 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Hydrops fetalis, Dehydration, Low-set ears, Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
Congenital Tracheomalacia |
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Esophageal atresia, Recurrent upper respiratory tract infections, Tracheoesophageal fistula, Cuti... |
ORPHA:95430 |
Slc39A8-Cdg |
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Limb undergrowth, Cutaneous syndactyly of toes, Low-set ears, Hearing impairment |
ORPHA:468699 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Protruding tongue, Macroglossia, Gastroesophageal reflux, Dysphagia, Open mouth, Cerebral edema |
ORPHA:258 |
Senior-Boichis Syndrome |
|
Ascites, Esophageal varix |
ORPHA:84081 |
Microsporidiosis |
|
Glossitis, Abnormal endometrium morphology, Dehydration, Rhinitis, Abnormal fallopian tube morpho... |
ORPHA:2552 |
Nelson Syndrome |
|
Testicular neoplasm, Striae distensae |
ORPHA:199244 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Rhizomelia, Micromelia, Bowing of the legs, Femoral retroversion, Coxa vara, Lo... |
OMIM:610682 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Underdeveloped nasal alae, Micrognathia, Supernumerary tooth, Concave nasal ridge, Gas... |
OMIM:619525 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Sensorineural hearing impairment |
OMIM:614863 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Tapered finger, Unilateral deafness, Short uvula, Submuc... |
OMIM:619539 |
Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Hypospadias, Phimosis, Carious teeth, Cryptorchidism, Esophageal stric... |
OMIM:305000 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix |
ORPHA:309854 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Alström Syndrome |
|
Abnormality of dental color, Precocious puberty in females, Hypergonadotropic hypogonadism, Testi... |
ORPHA:64 |
Choreoacanthocytosis |
|
Dysphagia, Protruding tongue |
ORPHA:2388 |