| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Hypopigmentation of hair, Generalized hyperpigmentation, Short nose, Antev... |
ORPHA:1355 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
| Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Retrognathia, Broad nasal tip, Micrognathia, Anophthalmia, Micro... |
OMIM:615524 |
| 17Q21.31 Microduplication Syndrome |
|
Failure to thrive, Generalized hirsutism, Thick eyebrow, Malar flattening, Micrognathia, Microcep... |
ORPHA:217340 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Micrognathia, Anophthalmia, Prominent nose, Microphthalmia, Vertebral fusion |
OMIM:221950 |
| Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
| Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, White eyelashes, Synophry... |
OMIM:193510 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Microcephaly, Arthrogryposis multiplex congenita, Microphthalmia |
OMIM:616570 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Microcephaly, Prominent nasal bridge, Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Macrocephaly, Hypertelorism, Broad nasal tip, Thin eyebrow, Thick nasal alae, High anterior hairl... |
OMIM:618147 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
| Non-Distal Trisomy 10Q |
|
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Depressed nasal bridge, Micrognathia, M... |
ORPHA:1695 |
| Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
| Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Microcephaly, Anophthalmia, Short nose, Microphthalmia |
OMIM:613885 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Macrocephaly, Thick eyebrow, Deeply set eye, Truncal obesity, Short nose, Synophrys, Mandibular p... |
ORPHA:2429 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Macrocephaly, Malar flattening, Retrognathia, Broad nasal tip, Short nose, Obesity, Hypertelorism... |
OMIM:613670 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Cofs Syndrome |
|
Joint stiffness, Abnormality of retinal pigmentation, Abnormal nasal morphology, Prominent metopi... |
ORPHA:1466 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Gombo Syndrome |
|
Microcephaly, Microphthalmia |
OMIM:233270 |
| Warburg Micro Syndrome 1 |
|
Failure to thrive, Hypertrichosis, Deeply set eye, Microphthalmia, Micrognathia, Microcephaly, Os... |
OMIM:600118 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Craniodigital-Intellectual Disability Syndrome |
|
Generalized hirsutism, Thick eyebrow, Abnormal hair pattern, Narrow nasal bridge, Short nose, Lon... |
ORPHA:1514 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microcephaly, Microphthalmia |
OMIM:615771 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Microcephaly, Micrognathia, ... |
ORPHA:1832 |
| Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Low posterior hairline |
ORPHA:1450 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Absent eyebrow, Absent eyelashes |
OMIM:200130 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Micrognathia, Microcephaly, Prominent nose, Microphthalmia |
OMIM:616171 |
| Burn-Mckeown Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Microphthalmia |
OMIM:248110 |
| 14Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Depressed nasal bridge, Micrognathia, Short nose, Melanocytic nevus, Hyperteloris... |
ORPHA:261120 |
| Pterygium Colli, Isolated |
|
Short nose, Low posterior hairline |
OMIM:177990 |
| Mmep Syndrome |
|
Mandibular prognathia, Microcephaly, Microphthalmia |
ORPHA:3434 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism |
OMIM:614069 |
| Microphthalmia With Limb Anomalies |
|
Flared nostrils, Retrognathia, Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Anophtha... |
OMIM:206920 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Macrocephaly, Abnormally large globe, Microcephaly, Wide nasal bridge, Short nose, ... |
OMIM:611936 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Faciothoracogenital Syndrome |
|
Anteverted nares, Micrognathia, Microphthalmia, Small nail |
OMIM:227320 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Bulbous nose, Low anterior hairline, Thick eyebrow, Broad nasal tip, Anophthalmia, Long eyelashes... |
ORPHA:411986 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Microcephaly, Microphthalmia |
ORPHA:2528 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose |
ORPHA:2015 |
| Edinburgh Malformation Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Joint stiffness, Hirsutism, Generalized hirsutism, Failure ... |
ORPHA:1895 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Macrocephaly, Patchy alopecia, Microcephaly, Camptodactyly of finger, Hypoplasia of the maxilla, ... |
ORPHA:85279 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
| Mental Retardation, X-Linked 91 |
|
Obesity, Short nose, Cubitus valgus, Low posterior hairline |
OMIM:300577 |
| Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
| Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
| Adams-Oliver Syndrome 2 |
|
Bulbous nose, Macrocephaly, Low anterior hairline, Depressed nasal bridge, Microcephaly, Microgna... |
OMIM:614219 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... |
OMIM:234050 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Macrocephaly, Depressed nasa... |
OMIM:122860 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Broad eyebrow, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge |
OMIM:618302 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnor... |
ORPHA:897 |
| Pierpont Syndrome |
|
Failure to thrive, Deeply set eye, Hypertelorism, Decreased body weight, Malar flattening, Broad ... |
OMIM:602342 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Deeply set eye, Convex nasal ridge, Sparse hair, Small for gestational age, Micrognathia, Camptod... |
OMIM:610756 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Joint contracture of the hand, Hypertelorism, Broad nasal tip, Bifid nose, Campto... |
OMIM:136760 |
| Developmental And Epileptic Encephalopathy 73 |
|
Failure to thrive, Inguinal hernia, Flexion contracture, Microcephaly, Narrow nasal bridge, Short... |
OMIM:618379 |
| Chung-Jansen Syndrome |
|
Thick eyebrow, Micrognathia, Short nose, Synophrys, Joint hypermobility, Anteverted nares, Cafe-a... |
OMIM:617991 |
| Pierpont Syndrome |
|
Deeply set eye, Hypertelorism, Malar flattening, Small for gestational age, Joint laxity, Primary... |
ORPHA:487825 |
| Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
| Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Microphthalmia, Microcephaly, Neutropenia, Anemia, Thrombocytopenia,... |
OMIM:614082 |
| Seckel Syndrome 2 |
|
Micrognathia, Microcephaly, Prominent nose, Microphthalmia, Few cafe-au-lait spots |
OMIM:606744 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Micrognathia, Microcephaly, Camptodactyly, Wide nose, Cubitus valgus, Knee flexion contracture, M... |
OMIM:619694 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Thick eyebrow, White hair, Hypopigmentation of hair, Short nose, Whit... |
ORPHA:894 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Bulbous nose, Deeply set eye, Lipoatrophy, Sparse hair, Hypopigmentation of th... |
ORPHA:261304 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Hypotelorism, Microcephaly, Pyriform aperture stenosis, Anophtha... |
OMIM:147250 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... |
ORPHA:1529 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Short nose, Hypertelorism, Wide nose |
OMIM:125700 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Nail dysplasia, Hypoplastic toenails, Macrocephaly, Malar flattening, Depressed nasal bridge, Hyp... |
ORPHA:2835 |
| Non-Distal Trisomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Hypoplastic toenails, Hypotelorism, Thick eyebrow, Microgna... |
ORPHA:1702 |
| Trisomy 1Q |
|
Hypoplastic toenails, Macrocephaly, Microretrognathia, Congenital diaphragmatic hernia, Hypotelor... |
ORPHA:261344 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Hirsutism, Deeply set eye, Microphthalmia, Joint contracture of the hand, Flex... |
OMIM:214150 |
| Hypotrichosis 8 |
|
Sparse scalp hair, Fair hair, Woolly hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
| Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Microcephaly, Prominent metopic ridge, Short nose |
ORPHA:46 |
| Fanconi Anemia, Complementation Group S |
|
Dental malocclusion, Failure to thrive, Low anterior hairline, Sparse hair, Microcephaly, Long ey... |
OMIM:617883 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short nose, Progressive microcephaly, Hypertelorism, Highly arched eyebrow |
ORPHA:438178 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Broad nasal tip, Micrognathia, Camptodactyly, Ventral hernia, Short nose, ... |
OMIM:618529 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Broad nasal tip, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Anteverted nares, Depressed nasal bridge, Short nose, Wide nasal bridge |
OMIM:616430 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Micrognathia, Genu valgum, Short nose, Proptosis, Patellar dislocation,... |
OMIM:614078 |
| Achondrogenesis |
|
Macrocephaly, Micrognathia, Abnormality of bone mineral density, Short nose, Anteverted nares, Ab... |
ORPHA:932 |
| 2Q24 Microdeletion Syndrome |
|
Failure to thrive, Small for gestational age, Camptodactyly of finger, Microphthalmia, Hypertelorism |
ORPHA:1617 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Unilambdoid synostosis, Micrognathia, Ulnar deviation of the wrist, Short nose, Long eyelashes, P... |
OMIM:618577 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Flexion contracture, Alopecia, Brittle hair, Delayed cranial suture closure, Loss of... |
OMIM:608612 |
| Temtamy Syndrome |
|
Macrocephaly, Convex nasal ridge, Micrognathia, Genu varum, Microphthalmia, Joint hyperflexibility |
ORPHA:1777 |
| Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Congenital giant melanocytic nevus, Short nose, Anteverted nares, Narrow nasal r... |
OMIM:137550 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Macrocephaly, Inguinal hernia, Recurrent upper respiratory tract infections, Congenital hip dislo... |
OMIM:300209 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Omphalocele, Microphthalmia, Hypertelorism, Abnormal hair morphology |
OMIM:248450 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Macrocephaly, Hypertelorism, Flexion contracture, Retrognathia, Broad nasal ti... |
ORPHA:391372 |
| Cockayne Syndrome Type 2 |
|
Hypermelanotic macule, Hypoplasia of the primary teeth, Flexion contracture, Anophthalmia, Enamel... |
ORPHA:90322 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Microcephaly, Short nose, Micrognathia, Distichiasis |
ORPHA:2598 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Genu recurvatum, Inguinal hernia, Joint laxity, Bilateral microphthalmos, Hip dislocation, Cigare... |
OMIM:608763 |
| Peho-Like Syndrome |
|
Progressive microcephaly, Short nose, Retrognathia |
OMIM:617507 |
| Braddock-Carey Syndrome 2 |
|
Retrognathia, Microcephaly, Bulbous nose, Microphthalmia |
OMIM:619981 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Micrognathia, Macrocephaly, Microphthalmia |
OMIM:617306 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Bulbous nose, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Progressive microcephaly |
OMIM:618737 |
| Anencephaly 2 |
|
Anophthalmia, Bifid nose |
OMIM:619452 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Omphalocele, Microphthalmia, Hypertelorism, Decreased skull ossification, Wide nasa... |
ORPHA:93267 |
| Al-Raqad Syndrome |
|
Deeply set eye, Hypopigmentation of the skin, Microcephaly, Short nose, Joint laxity |
OMIM:616459 |
| 8Q22.1 Microdeletion Syndrome |
|
Depressed nasal ridge, Craniosynostosis, Sparse eyebrow, Abnormality of the nares, Camptodactyly ... |
ORPHA:178303 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose, Synophrys |
DECIPHER:52 |
| Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Osteopenia, Delayed cranial suture closure, Micrognathia, Narrow nose, Wormian bones... |
OMIM:601812 |
| Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the nares, Short nose, Hypoplasia o... |
ORPHA:1248 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Malar flattening, Craniosynostosis, Depressed nasal bridge, Micrognathia, Radioulnar synostosis, ... |
ORPHA:171839 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Wide anterior fontanel, Abnormal bone ossification, Hypertelorism, Increased bone mineral density... |
ORPHA:163649 |
| Nablus Mask-Like Facial Syndrome |
|
Low anterior hairline, Joint contracture of the hand, Sparse hair, Craniosynostosis, Retrognathia... |
OMIM:608156 |
| 20P12.3 Microdeletion Syndrome |
|
Macrocephaly, Malar flattening, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:261295 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Generalized hirsutism, Reduced bone mineral density, Craniosynostosis, Retrogn... |
ORPHA:561 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Sparse eyebrow, Depressed nasal tip, Microcephaly, Recu... |
ORPHA:2399 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
| Perlman Syndrome |
|
Macrocephaly, Deeply set eye, Inguinal hernia, Retrognathia, Micrognathia, Femoral hernia, Short ... |
ORPHA:2849 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Failure to thrive, Bulbous nose, Agenesis of central incisor, Prominence of the zygomatic bone, T... |
ORPHA:364577 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Macrocephaly, Congenital diaphragmatic hernia, Depressed nasal bridge, Sh... |
ORPHA:2143 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Metatarsal osteolysis, Osteopenia, Micrognathia, Bilateral elbow dislocations, Wrist swelling, Ca... |
OMIM:166300 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
| Teebi Hypertelorism Syndrome 2 |
|
Wide anterior fontanel, Thick eyebrow, Broad nasal tip, Depressed nasal bridge, Delayed eruption ... |
OMIM:619736 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Small for gestational age, Microphthalmia |
OMIM:278780 |
| Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Sparse hair, Flexion contracture, Small for gestational age, Retrognathia, Brittle ha... |
OMIM:601675 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Bulbous nose, Macrocephaly, Malar flattening, Depressed nasal ... |
ORPHA:2180 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microphthalmia |
ORPHA:2432 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:35612 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Microcephaly, Short nose, Microphthalmia, Hypertelorism |
OMIM:614105 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Blue irides, Malar flattening, Depressed nasal bridge, Short nose, Anteverted nares, M... |
OMIM:614613 |
| Trisomy 13 |
|
Deeply set eye, Hypotelorism, Malar flattening, Anophthalmia, Abnormal eyelash morphology, Hernia... |
ORPHA:3378 |
| Smith-Kingsmore Syndrome |
|
Wide anterior fontanel, Macrocephaly, Depressed nasal bridge, Large for gestational age, Short no... |
OMIM:616638 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Depressed nasal bridge, Lipomas of eyelids, Hypoplasia of the maxilla, Widow's pe... |
OMIM:167730 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Microcephaly, Camptodactyly of finger, Short nose, Micrognathia |
ORPHA:1495 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic toenails, Hypoplastic fifth fingernail, Hypoplastic thumbnail, Micrognathia, Microcep... |
OMIM:619356 |
| Sandestig-Stefanova Syndrome |
|
Convex nasal ridge, Small for gestational age, Retrognathia, Prominent metopic ridge, Sparse medi... |
OMIM:618804 |
| Lowry-Maclean Syndrome |
|
Widely patent coronal suture, Convex nasal ridge, Craniosynostosis, Retrognathia, Osteopenia, Mic... |
ORPHA:2409 |
| Fetal Alcohol Syndrome |
|
Joint stiffness, Generalized hirsutism, Micrognathia, Microcephaly, Short nose, Microphthalmia, A... |
ORPHA:1915 |
| Anophthalmia Plus Syndrome |
|
Abnormal nasal morphology, Hypertelorism, Choanal atresia, Anophthalmia |
ORPHA:1104 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Primary microcephaly, Small for gestational age |
OMIM:245570 |
| Joubert Syndrome 37 |
|
Deeply set eye, Microphthalmia, Sparse hair, Prominent metopic ridge, Wide nose, Joint hypermobil... |
OMIM:619185 |
| Cerebrooculonasal Syndrome |
|
Macrocephaly, Malar flattening, Craniosynostosis, Sparse eyebrow, Sparse eyelashes, Optic nerve h... |
OMIM:605627 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Camptodactyly of finger, Short nose, Microphthalmia, Limitation of joint mobility |
ORPHA:2547 |
| Achondrogenesis Type 1A |
|
Recurrent fractures, Macrocephaly, Micrognathia, Femoral hernia, Short nose, Umbilical hernia, An... |
ORPHA:93299 |
| Trisomy 12P |
|
Aplasia/Hypoplasia affecting the eye, Thick eyebrow, Supernumerary nipple, Malar flattening, Micr... |
ORPHA:1699 |
| Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Relative macrocephaly, Micrognathia, Poorly ossified vertebrae, Microphth... |
OMIM:619135 |
| Achondrogenesis Type 1B |
|
Macrocephaly, Micrognathia, Femoral hernia, Short nose, Umbilical hernia, Anteverted nares, Abnor... |
ORPHA:93298 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Failure to thrive, Wide anterior fontanel, Abnormality of hair texture, Inguinal hernia, Malar fl... |
OMIM:219200 |
| Vitamin K Antagonist Embryofetopathy |
|
Aplasia/Hypoplasia affecting the eye, Depressed nasal bridge, Short nose, Proptosis, Choanal atre... |
ORPHA:1914 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Low anterior hairline, Hypotelorism, Sparse hair, Decreased body weight, Small for gestational ag... |
ORPHA:391408 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Micrognathia, Camptodactyly of finger, Osteoporosis, Long eyelashes, Microphthalmia, Malar promin... |
ORPHA:48431 |
| Congenital Varicella Syndrome |
|
Atypical scarring of skin, Microcephaly, Microphthalmia |
ORPHA:291 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Macrocephaly, Prominent nasal bridge, Hypoplasia of the maxilla |
OMIM:300676 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Carious teeth, Abnorm... |
ORPHA:2701 |
| Hydrolethalus |
|
Deeply set eye, Abnormality of the sense of smell, Micrognathia, Retrognathia, Anophthalmia, Micr... |
ORPHA:2189 |
| Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Retrognathia, Microcephaly, Wide nasal bridge, Short nose, Microphthalmia, Ant... |
OMIM:243310 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Melanocytic nevus, Depressed nasal bridge, Camptodactyly of finger, Microcep... |
ORPHA:1327 |
| Cerebrooculonasal Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Abnormality of the nares, Anophthalmia, Hypertelorism |
ORPHA:66625 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
| Keipert Syndrome |
|
Macrocephaly, Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Aplastic... |
ORPHA:2662 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Proptosis, Reduced bone mineral density |
ORPHA:2370 |
| 17P13.3 Microduplication Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Wide nose, Short nose, Hypertelorism |
ORPHA:217385 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Microcephaly, Microphthalmia |
OMIM:274270 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Osteoporosis of vertebrae, Hypoplasia of the maxilla |
OMIM:156510 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
| Microcephaly-Capillary Malformation Syndrome |
|
Failure to thrive, Abnormal hair whorl, Small for gestational age, Wide nose, Short nose, Hypopla... |
OMIM:614261 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Deeply set eye, Decreased body weight, Micrognathia, Camptodactyly of fin... |
OMIM:610758 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Failure to thrive, Macrocephaly, Thick eyebrow, Depressed nasal bridge, Broad columella, Short no... |
OMIM:617865 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse axillary hair, Osteopenia, Sparse facial hair, Genu valgum, Hypoplasia of the maxilla, Cub... |
OMIM:608154 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Hernia, Joint laxity, Microphthalmia, Hypertelorism, Progressive macrocep... |
OMIM:602501 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia, Delayed eruption of teeth, Short nose, Anteverted nares, H... |
ORPHA:884 |
| Potocki-Shaffer Syndrome |
|
Short nose, Sparse lateral eyebrow, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:601224 |
| Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Microcephaly, Microphthalmia |
OMIM:601349 |
| Split-Hand/Foot Malformation 3 |
|
Nail dysplasia, Microretrognathia, Camptodactyly, Hypoplasia of the maxilla, Ridged nail, Nail dy... |
OMIM:246560 |
| Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Toenail dysplasia, Umbilical hernia, Microphthalmia |
OMIM:615297 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microcephaly, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia |
OMIM:251270 |
| Clark-Baraitser Syndrome |
|
Low hanging columella, Depressed nasal bridge, Microcephaly, Short nose, Anteverted nares, Obesit... |
OMIM:617752 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Hirsutism, Deeply set eye, Sparse hair, Microcephaly, Short nose, Mandibular prognathia, Hypertel... |
OMIM:618087 |
| Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Bulbous nose, Short nose, Long eyelashes, Anteverted nares |
ORPHA:969 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Micrognathia, Microphthalmia, Hypertelorism, Wide nasal bridge |
ORPHA:1438 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Joint stiffness, Hypopigmented skin patches, Abnormality of the nares, Aplastic/hypoplastic toena... |
ORPHA:1295 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Holoprosencephaly |
|
Macrocephaly, Depressed nasal ridge, Depressed nasal tip, Omphalocele, Microphthalmia, Failure to... |
ORPHA:2162 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Low anterior hairline, Deeply set eye, Depressed nasal bridge, Optic nerve hypoplas... |
OMIM:618828 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Hypotelorism, Micrognathia, Short nose, Congenital contracture, Secondary microcephaly |
OMIM:615042 |
| Acrodysostosis |
|
Melanocytic nevus, Depressed nasal ridge, Depressed nasal bridge, Wide nasal bridge, Delayed erup... |
ORPHA:950 |
| Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Microphthalmia, Hypertelorism, Underdeveloped nasal alae, Wide ... |
OMIM:613456 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Bulbous nose, Hypoplasia of the maxilla, Frontal balding |
ORPHA:93945 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Hirsutism, Flexion contracture, Retrognathia, Osteopenia, Buphthalmos, Microce... |
OMIM:618005 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Macrocephaly, Genu recurvatum, Reduced bone mineral density, Coarse hair, Spina bifida occulta, S... |
ORPHA:1185 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Cockayne Syndrome Type 1 |
|
Failure to thrive, Scarring, Deeply set eye, Hypermelanotic macule, Hypoplasia of the primary tee... |
ORPHA:90321 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla |
ORPHA:93950 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Thick eyebrow, Microretrognathia, Highly arched eyebrow, Hypoplasia of the maxilla, Absent eyelas... |
ORPHA:228396 |
| Acrocephalopolydactyly |
|
Short nose, Hypertelorism, Genu recurvatum, Depressed nasal ridge |
ORPHA:221054 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Synophrys, Joint hypermobility, Mandibular prognathia, Hypertelorism |
OMIM:300143 |
| Crouzon Syndrome |
|
Convex nasal ridge, Multiple suture craniosynostosis, Choanal atresia, Hypoplasia of the maxilla,... |
ORPHA:207 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Short nose, Short nasal septum, Anosmia, Epiphyseal stippling |
OMIM:302950 |
| Frontonasal Dysplasia 2 |
|
Sparse hair, Depressed nasal ridge, Craniosynostosis, Sparse eyebrow, Depressed nasal bridge, Dep... |
OMIM:613451 |
| Xk Aprosencephaly Syndrome |
|
Abnormality of the nares, Microcephaly, Hypotelorism, Microphthalmia |
ORPHA:3469 |
| Lujan-Fryns Syndrome |
|
Macrocephaly, Micrognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Prominent nasal b... |
ORPHA:776 |
| Otodental Syndrome |
|
Taurodontia, Abnormal molar morphology, Delayed eruption of teeth, Pulp calcification, Carious te... |
ORPHA:2791 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Hypotelorism, Inguinal hernia, Broad nasal tip, Short nose, Umbilical hernia, Hypertelorism |
OMIM:613544 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Sparse eyelashes, Long n... |
OMIM:257850 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Macrocephaly, Depressed nasal ridge, Short nose, Microphthalmia, Decreased skull ossification |
OMIM:300863 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Inguinal hernia, Abnormality of the sense of smell, Choana... |
ORPHA:1135 |
| Warburg Micro Syndrome 3 |
|
Hypertrichosis, Low anterior hairline, Flexion contracture, Ankle clonus, Microcephaly, Micrognat... |
OMIM:614222 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Failure to thrive, Hypertelorism, Sparse hair, Inguinal hernia, Generalized joint lax... |
ORPHA:357074 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Coronal craniosynostosis, Depressed nasal bridge, Bifid nose, Fine hair, Microphthalmia... |
ORPHA:228390 |
| Pallister-Hall-Like Syndrome |
|
Macrocephaly, Depressed nasal bridge, Micrognathia, Short nose, Hip dislocation |
OMIM:241800 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Malar flattening, Craniosynostosis, Micrognathia, Short nose, Hypertelorism |
ORPHA:2145 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Failure to thrive, Low anterior hairline, Hypotelorism, Osteopenia, Microgna... |
ORPHA:329178 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Short nose, Macrocephaly, Microretrognathia, Wide nasal bridge |
OMIM:613603 |
| Arthrogryposis, Distal, Type 2A |
|
Flexion contracture of finger, Short nose, Mandibular prognathia, Deeply set eye, Joint dislocati... |
OMIM:193700 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Depressed nasal bridge, Short nose, Hypertelorism |
OMIM:613443 |
| Hall-Riggs Syndrome |
|
Joint stiffness, Failure to thrive, Hypertelorism, Coarse hair, Microcephaly, Wide nasal bridge, ... |
ORPHA:2107 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bulbous nose, Low anterior hairline, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Fr... |
ORPHA:369891 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Brittle hair, Coarse hair, Delayed eruption of teeth, Decreased skull ossification, ... |
ORPHA:50814 |
| Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Microcephaly, Short nose, Long eyelashes, Proptosis, Progressive microcephaly, Highly arched eyeb... |
OMIM:615803 |
| Oculotrichoanal Syndrome |
|
Abnormal hair pattern, Anophthalmia, Bifid nasal tip, Microphthalmia, Hypertelorism |
ORPHA:2717 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Failure to thrive, Deeply set eye, Depressed nasal bridge, Micrognathia, Microcephaly, Short nose... |
OMIM:613457 |
| Craniotelencephalic Dysplasia |
|
Microcephaly, Microphthalmia, Septo-optic dysplasia, Craniosynostosis |
ORPHA:1528 |
| Bainbridge-Ropers Syndrome |
|
Sparse hair, Broad nasal tip, Depressed nasal bridge, Short nose, Long eyelashes, Proptosis, Deep... |
OMIM:615485 |
| Nance-Horan Syndrome |
|
Supernumerary tooth, Prominent nose, Microphthalmia, Mandibular prognathia, Prominent nasal bridge |
ORPHA:627 |
| Microphthalmia With Brain And Digit Anomalies |
|
Nail dysplasia, Microcephaly, Anophthalmia, Microphthalmia |
ORPHA:139471 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Macrocephaly, Hypoplasia of the maxilla |
ORPHA:397973 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Bulbous nose, Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin bony cortex, Hypopla... |
OMIM:259600 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Sparse hair, Sparse eyebrow, Alopecia, Depressed nasal bridge, Congenital hip dislocation, Delaye... |
OMIM:268400 |
| Baraitser-Winter Syndrome 2 |
|
Retrognathia, Secondary microcephaly, Highly arched eyebrow, Microphthalmia |
OMIM:614583 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Alopecia, Micrognathia, Acroosteolysis of distal phalanges (feet), Generalize... |
ORPHA:90154 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Autosomal Dominant Omodysplasia |
|
Malar flattening, Depressed nasal bridge, Micrognathia, Short nose, Hypertelorism, Patellar dislo... |
ORPHA:93328 |
| Dysostosis, Stanescu Type |
|
Convex nasal ridge, Increased bone mineral density, Massively thickened long bone cortices, Abnor... |
ORPHA:1798 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Microcephaly, Sparse or ab... |
ORPHA:1234 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Micrognathia, Microcephaly, Camptodactyly of finger, Highly arched eyebrow, Abnormal hair pattern... |
ORPHA:2083 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Hypertrichosis, Depressed nasal bridge, Abnormality of skin pigmentation, Micr... |
OMIM:612379 |
| Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Absent inner eyelashes, Dimple on nasal tip, Depressed nasal bridge, Aplas... |
ORPHA:1791 |
| Monosomy 18P |
|
Alopecia, Micrognathia, Microcephaly, Carious teeth, Microphthalmia, Low posterior hairline, Wide... |
ORPHA:1598 |
| Distal Trisomy 18Q |
|
Micrognathia, Camptodactyly of finger, Abnormal hair pattern, Carious teeth, Short nose, Choanal ... |
ORPHA:1716 |
| Hartsfield Syndrome |
|
Depressed nasal bridge, Hypertelorism, Microphthalmia, Craniosynostosis |
ORPHA:2117 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Macrocephaly, Malar flattening, Rieger anomaly, Hypoplasia of the maxilla, Hip dislocation |
OMIM:109120 |
| Tetrasomy 5P |
|
Failure to thrive, Wide anterior fontanel, Macrocephaly, Micrognathia, Wide nasal bridge, Depigme... |
ORPHA:3309 |
| Stickler Syndrome Type 1 |
|
Osteoarthritis, Short nose, Hypoplasia of the maxilla, Joint hyperflexibility |
ORPHA:90653 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Microcephaly, Microphthalmia, Anemia, Thrombocytopenia, Fail... |
ORPHA:858 |
| Cohen Syndrome |
|
Convex nasal ridge, Macrodontia of permanent maxillary central incisor, Thick eyebrow, Micrognath... |
OMIM:216550 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly, Depressed nasal bridge, Short nose, Postnatal macrocephaly, Obesity, B... |
OMIM:605309 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Nail dysplasia, Failure to thrive, Sparse hair, Inguinal her... |
OMIM:613026 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Macrocephaly, Craniosynostosis, Osteopenia, Depressed nasal bridge, Short nose |
OMIM:614732 |
| Spinocerebellar Ataxia With Dysmorphism |
|
Anteverted nares, Short nose, Coarse hair |
OMIM:271270 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Small for gestational age, Osteopenia, Micrognathia, Microcephaly, Wormian b... |
OMIM:616897 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Anterior rib punctate calcifications, Flexion contracture, Abnormally ossified vertebrae, Sparse ... |
ORPHA:35173 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Deeply set eye, Micrognathia, Camptodactyly, Short nose |
OMIM:613604 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Malar flattening, Camptodactyly, Short nose, Hip dislocation |
OMIM:613458 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microcephaly, Short nose, Hypertelorism, Highly arched eyebrow |
OMIM:300887 |
| Hypomandibular Faciocranial Dysostosis |
|
Malar flattening, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Choanal sten... |
OMIM:241310 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Depressed nasal bridge, Micrognathia, Sagittal craniosynostosis, Short ... |
OMIM:145420 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Short nose, Microcephaly, Hypertelorism |
OMIM:616910 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Failure to thrive, Flexion contracture, Micrognathia, Microcephaly, Osteoporosis, Wide nose, Shor... |
OMIM:615851 |
| Pycnodysostosis |
|
Carious teeth, Hypoplasia of the maxilla, Increased bone mineral density, Micrognathia, Joint lax... |
ORPHA:763 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Depressed nasal bridge, Short nose, Micrognathia |
OMIM:614744 |
| Holoprosencephaly 9 |
|
Dental malocclusion, Hypoplasia of the premaxilla, Malar flattening, Depressed nasal bridge, Micr... |
OMIM:610829 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Macrocephaly, Hypertelorism, Bony paranasal bossing, Patchy sclerosis of finger phalanx, Nasal co... |
OMIM:218400 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Microcephaly, Short nose, Micrognathia, Slender nose |
OMIM:615419 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Failure to thrive, Macrocephaly, Malar flattening, Sparse eyebrow, Sparse eyelashes, Microcephaly... |
OMIM:618874 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Hypertelorism, Depressed nasal bridge, Short nose, Proptosis, Anteverted nares, Coarse metaphysea... |
OMIM:618961 |
| Craniosynostosis 4 |
|
Pansynostosis, Macrocephaly, Malar flattening, Coronal craniosynostosis, Depressed nasal bridge, ... |
OMIM:600775 |
| Gomez-Lopez-Hernandez Syndrome |
|
Wide anterior fontanel, Malar flattening, Craniosynostosis, Alopecia, Wormian bones, Short nose, ... |
OMIM:601853 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
| Oculodentodigital Dysplasia |
|
Thin anteverted nares, Taurodontia, Sparse hair, Low hanging columella, Microphthalmia, Fragile n... |
OMIM:164200 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Microcephaly, Short nose, Deeply set eye |
ORPHA:833 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Micrognathia, Synostosis of carpal bones, Microphthalmia, Anteverted nares, Obesity |
ORPHA:3191 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Macrocephaly, Congenital diaphragmatic hernia, Malar flattening, Broad na... |
OMIM:222448 |
| Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, Depressed nasal bridge, Camptodactyly of finger, Prominent metopic ridge,... |
OMIM:616920 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Low anterior hairline, Flexion contracture, Short nose, Hypoplasia of the maxilla, Hypertelorism,... |
OMIM:218000 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Microcephaly, Micrognathia, Short nose, Synophrys |
ORPHA:1913 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Coffin-Siris Syndrome 9 |
|
Sparse scalp hair, Hypertrichosis, Hypoplastic fifth fingernail, Low hanging columella, Long nose... |
OMIM:615866 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Hypotelorism, Microphthalmia, Craniosynostosis |
OMIM:218670 |
| Bartsocas-Papas Syndrome 2 |
|
Wide anterior fontanel, Microphthalmia, Micrognathia, Popliteal pterygium, Axillary pterygium, An... |
OMIM:619339 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Laryngotracheomalacia, Nail dysplasia, Bulbous nose, Deeply set eye, Hypotelorism, Congenital dia... |
OMIM:618454 |
| Dermotrichic Syndrome |
|
Depressed nasal bridge, Short nose, Hyperconvex toenail, Nail dystrophy |
ORPHA:99688 |
| 5Q14.3 Microdeletion Syndrome |
|
Deeply set eye, Thick eyebrow, Optic nerve hypoplasia, Short nose, Anteverted nares |
ORPHA:228384 |
| Antley-Bixler Syndrome |
|
Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Delayed cranial suture c... |
ORPHA:83 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Microcephaly, Micrognathia, Short nose, Long eyelashes, Natal tooth, Prog... |
OMIM:617802 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Deeply set eye, Reduced bone mineral density, Abnormal hair pattern, Spina bifida occulta, Genu v... |
ORPHA:2983 |
| Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Inguinal hernia, Craniosynostosis, Micrognathia, Choanal atresia, Mul... |
ORPHA:2645 |
| Microphthalmia, Syndromic 13 |
|
Microcephaly, Microphthalmia |
OMIM:300915 |
| Desbuquois Dysplasia 1 |
|
Advanced ossification of carpal bones, Joint dislocation, Microretrognathia, Malar flattening, De... |
OMIM:251450 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Mandibular prognathia, Hypertrichosis, Hypoplasia of the maxilla |
OMIM:601216 |
| Prolidase Deficiency |
|
Failure to thrive, Facial hirsutism, Depressed nasal bridge, Micrognathia, Short nose, Proptosis,... |
OMIM:170100 |
| Cebalid Syndrome |
|
Thick eyebrow, Congenital diaphragmatic hernia, Depressed nasal ridge, Depressed nasal bridge, Sh... |
OMIM:618774 |
| Poikiloderma With Neutropenia |
|
Joint stiffness, Reticular hyperpigmentation, Sparse eyebrow, Retrognathia, Depressed nasal bridg... |
OMIM:604173 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Thick eyebrow, Low anterior hairline, Microphthalmia, Microg... |
ORPHA:193 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Macrocephaly, Hypertelorism, Abnormal facial skeleton morphology, Op... |
ORPHA:141099 |
| Short Syndrome |
|
Deeply set eye, Sparse hair, Inguinal hernia, Malar flattening, Alopecia, Wide nasal bridge, Lipo... |
ORPHA:3163 |
| Autosomal Recessive Omodysplasia |
|
Craniosynostosis, Depressed nasal bridge, Micrognathia, Short nose, Anteverted nares, Hernia, Pte... |
ORPHA:93329 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Trismus, Delayed eruption of... |
OMIM:616367 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Abnormality of retinal pigmentation, Congenital diaphragmatic hernia, Retrogna... |
ORPHA:2556 |
| Microcephaly-Micromelia Syndrome |
|
Convex nasal ridge, Craniosynostosis, Micrognathia, Microcephaly, Wide nose, Microphthalmia, Hume... |
OMIM:251230 |
| Micro Syndrome |
|
Joint stiffness, Generalized hirsutism, Abnormality of retinal pigmentation, Micrognathia, Microc... |
ORPHA:2510 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of hair |
OMIM:614072 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Hyposmia, Failure of eruption of permanent teeth, Anophthalmia, Microphthalmia, ... |
ORPHA:2250 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Multiple cafe-au-lait spots, Microphthalmia |
OMIM:609054 |
| Focal Dermal Hypoplasia |
|
Hiatus hernia, Sparse hair, Broad nasal tip, Cleft ala nasi, Congenital hip dislocation, Delayed ... |
OMIM:305600 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Hirsutism, Low hanging columella, Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Pfeiffer Syndrome |
|
Elbow ankylosis, Coronal craniosynostosis, Depressed nasal bridge, Shallow orbits, Short nose, Ch... |
OMIM:101600 |
| Fibular Hemimelia |
|
Joint stiffness, Decreased hip abduction, Abnormal bone ossification, Craniosynostosis, Limited k... |
ORPHA:93323 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of finger, Delayed eru... |
ORPHA:915 |
| Muenke Syndrome |
|
Carpal synostosis, Macrocephaly, Hypermelanotic macule, Malar flattening, Coronal craniosynostosi... |
ORPHA:53271 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Bulbous nose, Deeply set eye, Hypotelorism, Sparse hair, Craniosynostosis, Small for gestational ... |
OMIM:614114 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Deeply set eye, Microcephaly, Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Broad nasal tip, Depressed nasal bridge, Microcephaly, Microphthalmia, Anteverted nares, Mandibul... |
OMIM:152950 |
| Oculodentodigital Dysplasia |
|
Sparse hair, Carious teeth, Short nose, Umbilical hernia, Mandibular prognathia, Abnormal cortica... |
ORPHA:2710 |
| Smith-Magenis Syndrome |
|
Joint stiffness, Taurodontia, Deeply set eye, Depressed nasal bridge, Micrognathia, Microcephaly,... |
ORPHA:819 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Deeply set eye, Low hanging columella, Small for gestational age, Micrognathia, Prominent metopic... |
OMIM:619148 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Malar flattening, Depressed nasal bridge, Micrognathia, Short nose,... |
OMIM:242860 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Supernumerary nipple, Patchy alopecia, Hyperconvex nail, Sparse body hair, Sparse eyelashes, Anon... |
OMIM:106260 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Failure to thrive, Thick eyebrow, Micrognathia, Depressed nasal bridge, Microcephaly, Distal arth... |
OMIM:619833 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Short nose, Microretrognathia |
ORPHA:1389 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Failure to thrive, Bulbous nose, Malar flattening, Microcephaly, Short nose, Anteverted nares, Pr... |
OMIM:616420 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Microphthalmia |
ORPHA:324416 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Osteoporosis, Aplasia/Hypoplasia of the lens, Iris hypopigmentation,... |
ORPHA:85194 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Decreased body weight, Abnormally large globe, Broad nasal tip, Micrognathia, Optic nerve hypopla... |
OMIM:300749 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Depressed nasal ridge, Malar flattening, Prominence of the premaxilla, Congenital hip dislocation... |
ORPHA:2412 |
| Pde4D Haploinsufficiency Syndrome |
|
Prominent nasal tip, Hypotelorism, Malar flattening, Depressed nasal bridge, Micrognathia, Short ... |
ORPHA:439822 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Depressed nasal bridge, Microcephaly, Short nose, Hip dislocation, Hypertelorism |
OMIM:608776 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Limited elbow extension and supination, Short nose, Joint laxity, Synophr... |
ORPHA:401935 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
| Gms Syndrome |
|
Depressed nasal bridge, Short nose, Microcephaly, Rieger anomaly |
OMIM:138770 |
| Matthew-Wood Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Abnormal spleen morphology, Anophthalmia, Mic... |
ORPHA:2470 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
| Microphthalmia, Isolated 5 |
|
Bone spicule pigmentation of the retina, Abnormality of skin pigmentation, Microphthalmia |
OMIM:611040 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Macrocephaly, Deeply set eye, Supernumerary nipple, Inguinal hernia, Retrognathia, Depressed nasa... |
ORPHA:1812 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Depressed nasal ridge, Abnormal ossification involving the femora... |
ORPHA:79345 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Micrognathia, Short nose, Thick nasal alae, Hypertelorism |
ORPHA:163961 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Bulbous nose, Hirsutism, Thick eyebrow, Low anterior hairline, Retrognathia, Depressed nasal brid... |
OMIM:617061 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Delayed eruption of teeth, Short... |
ORPHA:166272 |
| Marshall Syndrome |
|
Sparse hair, Malar flattening, Sparse eyebrow, Sparse eyelashes, Depressed nasal bridge, Osteoart... |
ORPHA:560 |
| Miller-Dieker Syndrome |
|
Anteverted nares, Short nose |
ORPHA:531 |
| 3Q29 Microduplication Syndrome |
|
Macrocephaly, Biparietal narrowing, Craniosynostosis, Camptodactyly of toe, Microcephaly, Microph... |
ORPHA:251038 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Wide nose, Genu valgum, Short nose, Mandibular prognathia |
ORPHA:2831 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Malar flattening, Craniosynostosis, Osteopenia, Depressed nasal bridge, Microcephaly, Short nose,... |
OMIM:616723 |
| Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Coarse hair, Microcephaly, Short nose, Hernia, Hypertelorism, Hypoplastic ... |
ORPHA:1912 |
| Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Hypertelorism, Joint contracture of the hand, Congenital diaphragmatic hernia,... |
ORPHA:363528 |
| Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Proptosis, Anteverted nares, Hypertelorism, Secondary microcephaly, Wide nasal bridge |
OMIM:618437 |
| Ohdo Syndrome |
|
Sparse eyebrow, Depressed nasal bridge, Micrognathia, Short nose, Joint laxity, Anteverted nares,... |
OMIM:249620 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Hypotelorism, Brittle hair, Tiger tail banding, Trichorrhexis nodosa, Carious ... |
OMIM:616395 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Otopalatodigital Syndrome, Type I |
|
Nail dysplasia, Dislocated radial head, Accessory carpal bones, Hypertelorism, Malar flattening, ... |
OMIM:311300 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Malar flattening, Micrognathia, Short nose, Hypoplasia of the maxilla, Secondary microcephaly |
ORPHA:79113 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Macrocephaly, Microretrognathia, Abnormality of the ankles, Abnormality of the wrist, Hypoplasia ... |
ORPHA:1307 |
| Cardiofaciocutaneous Syndrome 1 |
|
Bulbous nose, Macrocephaly, Sparse hair, Osteopenia, Depressed nasal bridge, Short nose, Proptosi... |
OMIM:115150 |
| Martsolf Syndrome 1 |
|
Low anterior hairline, Tracheomalacia, Finger joint hypermobility, Broad nasal tip, Depressed nas... |
OMIM:212720 |
| Cardiofaciocutaneous Syndrome |
|
Macrocephaly, Sparse hair, Depressed nasal bridge, Sparse or absent eyelashes, Genu valgum, Short... |
ORPHA:1340 |
| Walker-Warburg Syndrome |
|
Microcephaly, Macrocephaly, Anophthalmia, Microphthalmia |
ORPHA:899 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Delayed ossification of carpal bones, Malar flattening, Hyperconvex nail, Abnormally large globe,... |
OMIM:239300 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Leukonychia, Cellulitis, Melanonychia, Microcephaly, Anophth... |
ORPHA:2526 |
| Hallermann-Streiff Syndrome |
|
Recurrent fractures, Abnormality of hair texture, Convex nasal ridge, Supernumerary tooth, Malar ... |
ORPHA:2108 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Momo Syndrome |
|
Dental malocclusion, Abnormal bone ossification, Taurodontia, Macrocephaly, Hyperconvex nail, Del... |
ORPHA:2563 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Prominence of the premaxilla, Microcephaly, Prominent nose, Delayed closu... |
OMIM:614886 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Microphthalmia |
OMIM:617914 |
| Joubert Syndrome 14 |
|
Deeply set eye, Microphthalmia, Malar flattening, Prominent nasal bridge, Hypertelorism, Highly a... |
OMIM:614424 |
| Malan Syndrome |
|
Macrocephaly, Retrognathia, Advanced eruption of teeth, Short nose, Hyperplasia of the premaxilla... |
OMIM:614753 |
| Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Abnormality of the nose, ... |
ORPHA:999 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Nail dysplasia, Failure to thrive, Flexion contracture, Finger joint hypermobility, Inguinal hern... |
ORPHA:544503 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Macrocephaly, Anophthalmia, Long eyelashes, Microphthalmia, Recurrent patellar dislocation |
OMIM:615877 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Macrocephaly, Thick eyebrow, Flexion contracture, Patchy alopecia, Micrognathia, Recurrent upper ... |
OMIM:300534 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigmentation of hair, Abnormality of... |
ORPHA:3440 |
| Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Reduced bone mineral density, Microcephaly, Abnormal fingernail morphology, ... |
ORPHA:3079 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Bulbous nose, Deeply set eye, Microretrognathia, Hypotelorism, Long nose, Camptodactyly of finger... |
ORPHA:261211 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macrocephaly, Flexion contracture, Hyperextensibility of the finger joints, Long nose, Micrognath... |
OMIM:309520 |
| Distal Trisomy 5Q |
|
Craniosynostosis, Micrognathia, Microcephaly, Carious teeth, Short nose, Hernia, Hypertelorism, P... |
ORPHA:96097 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Bulbous nose, Depressed nasal bridge, Prominent metopic ridge, Microcephaly, Short nose, Mandibul... |
ORPHA:261144 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Sparse hair, Dry hair, Carious teeth, Microphthalmia, Hypopl... |
OMIM:133540 |
| Moebius Syndrome |
|
Hypertelorism, Depressed nasal bridge, Micrognathia, Camptodactyly, Arthrogryposis multiplex cong... |
OMIM:157900 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Short nose, Micrognathia, Deeply set eye |
OMIM:617183 |
| Baker-Gordon Syndrome |
|
Short nose, Prominent nasal tip |
OMIM:618218 |
| Warburg Micro Syndrome 2 |
|
Low anterior hairline, Flexion contracture, Microcephaly, Short nose, Microphthalmia, Secondary m... |
OMIM:614225 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Micrognathia, Microcephaly, Microphthalmia, Wide nasal bridge |
ORPHA:1352 |
| Rapp-Hodgkin Syndrome |
|
Progressive alopecia, Sparse hair, Depressed nasal bridge, Narrow nose, Decreased number of sweat... |
OMIM:129400 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Micrognathia, Recurrent upper respiratory tract infections, Congenital... |
ORPHA:3078 |
| Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Macrocephaly, Depressed nasal bridge, Short nose, Proptosis, Cubitus valgus,... |
OMIM:114620 |
| Curry-Jones Syndrome |
|
Generalized hirsutism, Craniosynostosis, Microphthalmia, Hypertelorism, Hypopigmented skin patches |
ORPHA:1553 |
| Atelosteogenesis, Type Iii |
|
Knee dislocation, Malar flattening, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxil... |
OMIM:108721 |
| Distal Xq28 Microduplication Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Broad nasal tip, Recurrent upper respiratory tract infections,... |
ORPHA:293939 |
| Even-Plus Syndrome |
|
Sparse hair, Depressed nasal ridge, Bifid nasal tip, Short nose, Synophrys, Highly arched eyebrow |
OMIM:616854 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Anophthalmia, Bilateral microphth... |
OMIM:601186 |
| Warburg Micro Syndrome 4 |
|
Hirsutism, Low anterior hairline, Deeply set eye, Flexion contracture, Microphthalmia, Anteverted... |
OMIM:615663 |
| Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Generalized hirsutism, Irregular hyperpigmentation, Inguinal hernia, Micrognathia, Microcephaly, ... |
ORPHA:2505 |
| Incontinentia Pigmenti |
|
Sparse hair, Alopecia, Coarse hair, Delayed eruption of teeth, Hypoplasia of the fovea, Breast ap... |
OMIM:308300 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Sparse hair, Inguinal hernia, Malar flattening, Depressed nasal bridge, Microg... |
OMIM:602613 |
| Marden-Walker Syndrome |
|
Wide anterior fontanel, Joint contracture of the hand, Inguinal hernia, Micrognathia, Microcephal... |
OMIM:248700 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow... |
ORPHA:238468 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Secondary microcephaly, Primary microcephaly, Small for gestational age |
ORPHA:289266 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Bulbous nose, Microretrognathia, Short nose, Horizontal eyebrow, Microphthalmia, Hypertelorism, W... |
OMIM:618571 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hypertrichosis, Macrocephaly, Craniosynostosis, Large for gestational age, Short nose, Long eyela... |
OMIM:213980 |
| Toluene Embryopathy |
|
Micrognathia, Microcephaly, Hypoplasia of the zygomatic bone, Short nose, Biparietal narrowing |
ORPHA:1920 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Failure to thrive, Deeply set eye, Congenital diaphragmatic hernia, Long nose, Narrow nose, Campt... |
OMIM:617602 |
| Isolated Arrhinia |
|
Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal septum, Absent... |
ORPHA:1134 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Anophthalmia, Hypoplasia of the maxilla, Umbilical hern... |
ORPHA:1101 |
| Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Short nose, Wide nasal bridge |
OMIM:614207 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Microcephaly, Coarse hair, Abnormal hair pattern, Spina bifida occulta, Hypopl... |
ORPHA:1786 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Flexion contracture, Optic nerve hypoplasia, Microcephaly, Microphthalmia |
OMIM:614833 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Deeply set eye, Hypotelorism, Congenital diaphragmatic hernia, Sparse eyebrow, Supernumerary nipp... |
OMIM:612530 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Talon cusp, Proximal radio-ulnar synostosis, Micrognathia, Abnor... |
ORPHA:363417 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Macrocephaly, Depressed nasal bridge, Micrognathia, Camptodactyly, Short nos... |
OMIM:616331 |
| Desmosterolosis |
|
Failure to thrive, Macrocephaly, Relative macrocephaly, Joint contracture of the hand, Micrognath... |
OMIM:602398 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Splenomegaly, Microcephaly, Thrombocytopenia, Microphthalmia... |
ORPHA:290 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Convex nasal ridge, Hypoplasia of the maxilla, Malar flattening |
ORPHA:93262 |
| Microphthalmia, Syndromic 2 |
|
Dental malocclusion, Contracture of the proximal interphalangeal joint of the 3rd toe, Decreased ... |
OMIM:300166 |
| Osteoglophonic Dysplasia |
|
Hypoplastic toenails, Eruption failure, Failure to thrive, Hypertelorism, Inguinal hernia, Cranio... |
OMIM:166250 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Retrognathia, Depressed nasal bridge, Micrognathia, Optic nerve... |
OMIM:618156 |
| Angelman Syndrome |
|
Fair hair, Blue irides, Hypopigmentation of the skin, Hypoplasia of the maxilla, Mandibular progn... |
OMIM:105830 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Convex nasal ridge, Malar flattening, Synostosis of carpal bon... |
ORPHA:3258 |
| 19P13.13 Microdeletion Syndrome |
|
Macrocephaly, Deeply set eye, Malar flattening, Depressed nasal bridge, Optic nerve hypoplasia, S... |
ORPHA:357001 |
| Myoclonic-Astatic Epilepsy |
|
Frontal balding, Microcephaly, Thick nasal alae, Microphthalmia, Anteverted nares, Wide nasal bridge |
ORPHA:1942 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Short nose, Depressed nasal ridge, Microphthalmia |
ORPHA:163966 |
| Axenfeld-Rieger Syndrome |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the iris, Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:782 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Hyperpigmented nevi, Depressed nasal ridge, Optic nerve hypoplasia, Choanal atresia, Bilateral mi... |
OMIM:607597 |
| Codas Syndrome |
|
Depressed nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Short nose, Anteve... |
ORPHA:1458 |
| Biemond Syndrome Type 2 |
|
Obesity, Microphthalmia |
ORPHA:141333 |
| Jaberi-Elahi Syndrome |
|
Joint stiffness, Failure to thrive, Sparse hair, Sparse eyebrow, Sparse eyelashes, Brittle hair, ... |
OMIM:617988 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Thick eyebrow, Flexion contracture, Low hanging columella, Facial hirsutism, Delayed cranial sutu... |
OMIM:619383 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Retrognathia, Micrognathia, Anophthalmia, Femoral hernia, Microphthalmia, Hip di... |
ORPHA:3412 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Bulbous nose, Short nose, Prominent nasal bridge, Hyperconvex nail |
OMIM:613870 |
| Gorlin-Chaudhry-Moss Syndrome |
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Generalized hirsutism, Low anterior hairline, Coronal craniosynostosis, Coarse hair, Aplasia/Hypo... |
ORPHA:2095 |
| 3Q29 Microdeletion Syndrome |
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Failure to thrive, Macrocephaly, Microcephaly, Short nose, Abnormality of skin pigmentation, Micr... |
ORPHA:65286 |
| Cat-Eye Syndrome |
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Hypertelorism, Microphthalmia |
ORPHA:195 |
| Bent Bone Dysplasia Syndrome 1 |
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Hirsutism, Malar flattening, Coronal craniosynostosis, Micrognathia, Abnormally large globe, Hype... |
OMIM:614592 |
| Fraser Syndrome 1 |
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Dental malocclusion, Extension of hair growth on temples to lateral eyebrow, Absent eyebrow, Depr... |
OMIM:219000 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Inguinal hernia, Joint contracture of the 4th finger, Retrognathia, Micrognathia, Joint contractu... |
OMIM:618914 |
| Microphthalmia, Isolated 6 |
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Microphthalmia |
OMIM:613517 |
| Geroderma Osteodysplasticum |
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Recurrent fractures, Malar flattening, Hyperextensibility of the finger joints, Osteopenia, Micro... |
OMIM:231070 |
| Ruvalcaba Syndrome |
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Generalized hirsutism, Convex nasal ridge, Inguinal hernia, Microcephaly, Synostosis of carpal bo... |
ORPHA:3121 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
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Dislocated radial head, Dental malocclusion, Melanocytic nevus, Blue irides, Calvarial hyperostos... |
OMIM:101800 |
| 8P23.1 Microdeletion Syndrome |
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Deeply set eye, Congenital diaphragmatic hernia, Biparietal narrowing, Micrognathia, Microcephaly... |
ORPHA:251071 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Absent nipple, Periorbital hyperpigmentation, Taurodontia, Sparse hair, Sparse eyebrow, Sparse ey... |
OMIM:305100 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Hypotelorism, Thick eyebrow, Microcephaly, Radioulnar synostosis, Short nose, Enamel agenesis, Sy... |
OMIM:614701 |
| Jacobsen Syndrome |
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Failure to thrive, Macrocephaly, Flexion contracture, Depressed nasal bridge, Micrognathia, Macul... |
OMIM:147791 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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Deeply set eye, Micrognathia, Optic nerve hypoplasia, Short nose, Mandibular prognathia |
ORPHA:496790 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
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Depressed nasal bridge, Microcephaly, Micrognathia, Carious teeth, Microphthalmia |
OMIM:616734 |
| 14Q22Q23 Microdeletion Syndrome |
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Hypertelorism, Malar flattening, Micrognathia, Anophthalmia, Proptosis, Optic nerve aplasia, Unde... |
ORPHA:264200 |
| Goldberg-Shprintzen Syndrome |
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Bulbous nose, Thick eyebrow, Sparse hair, Microcephaly, Highly arched eyebrow, Hypoplasia of the ... |
OMIM:609460 |
| Diaphanospondylodysostosis |
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Depressed nasal ridge, Tracheomalacia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Abs... |
OMIM:608022 |
| Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Wormian bones, Osteoporosis, Joint laxity, Increased susceptibility to fractures, Mic... |
ORPHA:2788 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Sparse eyebrow, Sparse eyelashes, Camptodactyly of finger, Wide nasal bridge, Bifid nose, Hypopla... |
ORPHA:306542 |
| Frontofacionasal Dysplasia |
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Hypertelorism, Malar flattening, Absent inner eyelashes, Bifid nose, Short nose, Hypoplasia of th... |
OMIM:229400 |
| Bresek Syndrome |
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Convex nasal ridge, Alopecia, Optic nerve hypoplasia, Microcephaly, Microphthalmia |
ORPHA:85284 |
| Helsmoortel-Van Der Aa Syndrome |
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Broad nasal tip, Advanced eruption of teeth, Short nose, Joint laxity, Anteverted nares, Obesity,... |
OMIM:615873 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
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Bulbous nose, Flexion contracture, Broad eyebrow, Hyperextensibility at wrists, Hypoplasia of the... |
ORPHA:481152 |
| Fibrochondrogenesis 2 |
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Anteverted nares, Micrognathia, Short nose, Malar flattening |
OMIM:614524 |
| Distal Monosomy 10Q |
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Hypoplastic toenails, Failure to thrive, Hypotelorism, Craniosynostosis, Micrognathia, Prominent ... |
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