Dwarfism With Tall Vertebrae |
|
Coxa vara, Increased vertebral height |
OMIM:126950 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, High palate, Depressed nasal bridge, Abnormal distal phalanx morphology of finger, ... |
ORPHA:1387 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Malar flattening, Abnormality of the ear, Delayed cranial suture closure, Hypotelorism, Hearing a... |
ORPHA:2511 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft palate, Depressed nasal bridge, Microphthalmia, Holoprosencephaly, Hypotelorism, Deeply set... |
OMIM:612530 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Large fontanelles, Bowing of the long bones, Hypotelorism, Malar flattening, Congenital hip dislo... |
OMIM:612940 |
Cerebrooculonasal Syndrome |
|
Cleft palate, High palate, Brachycephaly, Anophthalmia, Short nose, Malar flattening, Posteriorly... |
OMIM:605627 |
Holoprosencephaly 2 |
|
Aplasia of the nose, Microphthalmia, Diabetes insipidus, Median cleft lip and palate, Holoprosenc... |
OMIM:157170 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Holoprosencephaly 5 |
|
High palate, Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Trigonocephaly, ... |
OMIM:609637 |
Holoprosencephaly |
|
Abnormal form of the vertebral bodies, Iris coloboma, Aplasia/Hypoplasia involving the nose, Apla... |
ORPHA:2162 |
Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Midnasal stenosis, Microphthalmia, Holoprosencephaly, Anophthalmia, Cyc... |
OMIM:147250 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Malar flattening, Anteverted nares, Low posterior hairline, Low-set ears, Deeply set eye, Plagioc... |
OMIM:618672 |
Holoprosencephaly 3 |
|
Cleft palate, Depressed nasal bridge, Holoprosencephaly, Short columella, Malar flattening, Bifid... |
OMIM:142945 |
Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Microphthalmia, Hemivertebrae, Median cleft lip and palate, Holoprosencephaly... |
OMIM:264480 |
Trisomy 18 |
|
Cleft palate, Short nose, Iris coloboma, Deviation of finger, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:3380 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Prominent nose, Micrognathia, Cleft palate, Microphthalmia, Vertebral fusion, Anophthalmia, Macro... |
OMIM:221950 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Verte... |
ORPHA:1570 |
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
|
Holoprosencephaly, Intrauterine growth retardation, Microcephaly |
OMIM:306990 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Microphthalmia, Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morph... |
ORPHA:93267 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Conductive hearing impairment, Micrognathia,... |
ORPHA:3082 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Chronic otitis media, Abnormal clavicle morphology, Hypotelorism, Deeply set eye, Abnormal rib mo... |
ORPHA:276422 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia of the nose, Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thu... |
ORPHA:3186 |
Non-Distal Trisomy 13Q |
|
Micrognathia, High palate, Trigonocephaly, Short nose, Hypotelorism, Arachnodactyly, Aplasia/Hypo... |
ORPHA:1702 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly, Mandibular aplasia, Microglossia, Low-set, posteriorly rotated ears, Aplasia/H... |
ORPHA:990 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hallux valgus, Micrognathia, Short middle phalanx of finger, Short 5th toe, Short 2nd toe, Pectus... |
OMIM:211920 |
Microform Holoprosencephaly |
|
Maternal diabetes, Midnasal stenosis, Cleft palate, Duodenal atresia, Holoprosencephaly, Short no... |
ORPHA:280200 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... |
OMIM:609813 |
Holoprosencephaly 13, X-Linked |
|
Micrognathia, Butterfly vertebrae, Aplasia of the nose, Cleft palate, Septo-optic dysplasia, Duod... |
OMIM:301043 |
Trisomy 13 |
|
Cleft palate, Malar flattening, Iris coloboma, Abnormality of pelvic girdle bone morphology, Low-... |
ORPHA:3378 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Hydranencephaly, Hydrocephalus |
OMIM:617967 |
Acrocraniofacial Dysostosis |
|
Abnormality of the vertebral column, Conductive hearing impairment, Micrognathia, Abnormal audito... |
OMIM:201050 |
Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly, Camptodactyly of finger |
ORPHA:3180 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cleft palate, Abnormality of the diencephalon, Radial club hand, Holoprosencephaly, Hypertelorism... |
ORPHA:2165 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Cleft palate, Short nose, Syndactyly, Anteverted nares, Low-set ears, Radioul... |
OMIM:614701 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Micrognathia, Pectus excavatum, Abnormal vertebral morphology, Kyphoscoliosis, Hypotelorism, Macr... |
OMIM:616817 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, H... |
OMIM:617719 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Pectus excavatum, Cleft palate, Brachycephaly, Mandibular prognathia, Hypotelorism, Malar flatten... |
OMIM:268850 |
Non-Distal Trisomy 10Q |
|
Micrognathia, Convex nasal ridge, Depressed nasal bridge, High palate, Pectus excavatum, Brachyce... |
ORPHA:1695 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Neu-Laxova Syndrome 2 |
|
Depressed nasal ridge, Micrognathia, High palate, Cleft palate, Rocker bottom foot, Hypertelorism... |
OMIM:616038 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Deviation of the 5th toe, Short nose, Slender finger, Diabetes mellitus, Cerebellar hypoplasia, A... |
ORPHA:391408 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Pectus excavatum, Kyphoscoliosis, Supernumerary tooth, Hypotelorism, W... |
OMIM:264475 |
Acrootoocular Syndrome |
|
Prominent calcaneus, Delayed eruption of teeth, Short toe, Low-set ears, Atresia of the external ... |
ORPHA:2980 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cleft palate, Thyroid hypoplasia, Abnormality of the hypothalamus-pituitary axis, Hypoplasia of t... |
ORPHA:2166 |
Autosomal Dominant Brachyolmia |
|
Abnormality of the metaphysis, Kyphoscoliosis, Platyspondyly, Increased vertebral height |
ORPHA:93304 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta |
ORPHA:2956 |
Developmental And Epileptic Encephalopathy 87 |
|
Prominent nose, High palate, Hypotelorism, Hypertelorism, Bulbous nose, Cerebral atrophy, Midface... |
OMIM:618916 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Micrognathia, High palate, Cerebral white matter atrophy, Short nose, Hypotelorism, Cerebellar hy... |
OMIM:615042 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small anterior fontanelle, Large beaked nose, High palate, Metopic suture patent to nasal root, T... |
ORPHA:3369 |
Distal Monosomy 10Q |
|
Cleft palate, Short metatarsal, Short nose, Cerebellar hypoplasia, Low-set ears, Protruding ear, ... |
ORPHA:96148 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Short 1st metacarpal, T... |
ORPHA:949 |
Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... |
ORPHA:439822 |
Trisomy 1Q |
|
Cleft palate, Short thorax, Hydrocephalus, Cerebellar hypoplasia, Camptodactyly of finger, Low-se... |
ORPHA:261344 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
Chromosome 5P13 Duplication Syndrome |
|
High palate, Brachycephaly, Long fingers, Low posterior hairline, Craniosynostosis, Hypotelorism,... |
OMIM:613174 |
Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Coloboma, Microphthalmia, Vertebral fusion, Anophthalmia, Hypogona... |
OMIM:206900 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Micrognathia, Cleft palate, High palate, 2-3 toe syndactyly, Metaphyseal widening, Rhizomelia, Hy... |
OMIM:617164 |
Trigonocephaly 1 |
|
Meckel diverticulum, Trigonocephaly, Craniosynostosis, Hypotelorism, Lumbar hemivertebrae, Microc... |
OMIM:190440 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Microphthalmia, Short finger, Brachycephaly, Wide nasal ridge, Macrot... |
ORPHA:487825 |
Proboscis Lateralis |
|
Proboscis, Iris coloboma, Cyclopia, Choanal atresia, Abnormal paranasal sinus morphology, Abnorma... |
ORPHA:141099 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal ilium morphology, Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
Semilobar Holoprosencephaly |
|
Cleft palate, Neural tube defect, Proboscis, Hydrocephalus, Cyclopia, Abnormal morphology of the ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Cleft palate, Neural tube defect, Proboscis, Hydrocephalus, Cyclopia, Abnormal morphology of the ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Cleft palate, Neural tube defect, Proboscis, Hydrocephalus, Cyclopia, Abnormal morphology of the ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Cleft palate, Neural tube defect, Proboscis, Hydrocephalus, Cyclopia, Abnormal morphology of the ... |
ORPHA:93924 |
Holoprosencephaly 7 |
|
Short nose, Iris coloboma, Hypoplasia of the premaxilla, Flat nasal alae, Hydrocephalus, Alobar h... |
OMIM:610828 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect |
OMIM:608681 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Cerebral white matter hypoplasia, Hypotelorism, Clinodactyly, Pachygyria, Syndactyly, Hypoplasia ... |
OMIM:619091 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Large beaked nose, Micrognathia, Convex nasal ridge, Microphthalmia, Rocker bottom foot, Kyphosco... |
OMIM:610756 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Craniosynostosis, Hypotelorism, Absent s... |
OMIM:218670 |
16P13.11 Microdeletion Syndrome |
|
Pectus excavatum, Cleft palate, Depressed nasal bridge, Metatarsus valgus, Holoprosencephaly, Sho... |
ORPHA:261236 |
Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Conductive hearing impairment, High palate, Depressed nasal bridge, Diabetes insipidus, Hypotelor... |
OMIM:618500 |
Alkuraya-Kucinskas Syndrome |
|
Short nose, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Camp... |
OMIM:617822 |
6P22 Microdeletion Syndrome |
|
Overfolded helix, Hypotelorism, Hearing impairment, Finger syndactyly, Hydrocephalus, Low-set ear... |
ORPHA:251046 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Flat capital femoral epiphysis, Flat... |
OMIM:614135 |
Hydrolethalus |
|
Arrhinencephaly, Micrognathia, Cleft palate, Anencephaly, Microphthalmia, Submucous cleft hard pa... |
ORPHA:2189 |
Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Cleft palate, Microphthalmia, Polydactyly, Anophthalmia, Short nose, Posta... |
OMIM:613885 |
Pierpont Syndrome |
|
Large fleshy ears, Short nose, Malar flattening, Hearing impairment, Short toe, Prominent fingert... |
OMIM:602342 |
Cofs Syndrome |
|
Micrognathia, Microphthalmia, Wide nasal bridge, Sensorineural hearing impairment, Microcephaly, ... |
ORPHA:1466 |
Warburg Micro Syndrome 1 |
|
Micrognathia, Perisylvian polymicrogyria, Microphthalmia, Kyphoscoliosis, Macrotia, Wide nasal br... |
OMIM:600118 |
Mosaic Trisomy 9 |
|
Cleft palate, Bulbous nose, Camptodactyly of finger, Low-set ears, Finger clinodactyly, Micrognat... |
ORPHA:99776 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Carious teeth, Micrognathia, Cleft palate, Depressed nasal bridge, Pectus excavatum, Microphthalm... |
OMIM:616734 |
Anophthalmia Plus Syndrome |
|
Bilateral cleft lip and palate, Cleft palate, Anophthalmia, Hypertelorism, Low-set, posteriorly r... |
ORPHA:1104 |
Harrod Syndrome |
|
Protruding ear, High palate, Long nose, Hypotelorism, Arachnodactyly, Kyphosis, Microcephaly, Den... |
ORPHA:2115 |
Mosaic Trisomy 14 |
|
Micrognathia, Cleft palate, High palate, Ectopic anus, Hypertelorism, Low-set, posteriorly rotate... |
ORPHA:1703 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Micrognathia, Cerebral white matter hypoplasia, Adducted thumb, Hypertelorism, Wide nasal bridge,... |
ORPHA:3207 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Depressed nasal bridge, Adducted thumb, Rocker bottom foot, Mandibular prognathia, Hypotelorism, ... |
OMIM:618622 |
Mental Retardation, Autosomal Recessive 13 |
|
Hypertelorism, Hypotelorism, Wide nasal bridge, Secondary microcephaly, Short neck, Hypoplasia of... |
OMIM:613192 |
Diastrophic Dysplasia |
|
Cleft palate, Overfolded helix, Abnormal form of the vertebral bodies, Symphalangism affecting th... |
ORPHA:628 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Hearing ... |
ORPHA:794 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Genu varum, Coronal cleft vertebrae, Epiphyseal stippling, Bowing of the long bones, Hypotelorism... |
ORPHA:1952 |
Mental Retardation, Autosomal Dominant 7 |
|
Hallux valgus, Micrognathia, Pectus excavatum, Hypotelorism, Macrotia, Abnormality of the pinna, ... |
OMIM:614104 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Trigonocephaly, Webbed neck, Hypertelorism, Abnormality of the pinna, Hearing imp... |
OMIM:614583 |
Cranioectodermal Dysplasia |
|
Abnormal diaphysis morphology, Pectus excavatum, Rhizomelia, Craniosynostosis, Abnormal dental en... |
ORPHA:1515 |
Braddock Syndrome |
|
Micrognathia, Pectus excavatum, Hemivertebrae, Overfolded helix, Hypotelorism, Missing ribs, Post... |
ORPHA:52047 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Kyphoscol... |
OMIM:214150 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Cleft palate, Microphthalmia, Rocker bottom foot, Low-set ears, Microcephaly |
OMIM:616570 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hemivertebrae, Abnormal vertebral morphology, Holoprosencephaly, Anophthalmia, Es... |
ORPHA:77298 |
Monosomy 18P |
|
Carious teeth, Micrognathia, Cleft palate, Pectus excavatum, Microphthalmia, Enlarged thorax, Bra... |
ORPHA:1598 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Holoprosencephaly, Craniosynostosis, Hypotelorism, Brachydactyly, S... |
ORPHA:2163 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Duodenal atresia, Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Camptodactyly of finge... |
ORPHA:468631 |
Trisomy 18P |
|
Pyloric stenosis, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Hypotelorism, Abn... |
ORPHA:1715 |
Holoprosencephaly 9 |
|
Cleft palate, Malar flattening, Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Hydr... |
OMIM:610829 |
Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Platyspondyly |
OMIM:269630 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia, Cortical dysp... |
OMIM:615771 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Schmorl's node, Irregular vertebral endplates, Beaking of vertebral bodies, Plat... |
OMIM:604864 |
Frontoocular Syndrome |
|
Micrognathia, High palate, Pectus excavatum, Trigonocephaly, Hypotelorism, Prominent nasal bridge... |
OMIM:605321 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Depressed nasal ridge, Cleft palate, Dysplastic corpus callosum, Limb undergrowth, Hypotelorism, ... |
OMIM:601016 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, High palate, Short nose, Abnormality of the pinna, Hypertelorism, Hypotelorism, ... |
OMIM:613544 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Hypotelorism, Anal atresia, Abnormality of the... |
ORPHA:3469 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Small anterior fontanelle, Convex nasal ridge, High palate, Trigonocephaly, Hypotelorism, Posteri... |
OMIM:314320 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cleft palate, Short nose, Hearing impairment, Bulbous nose, Polymicrogyria, Anteverted nares, Low... |
OMIM:618454 |
Temtamy Syndrome |
|
Micrognathia, Convex nasal ridge, Microphthalmia, Genu varum, Chorioretinal coloboma, Hypertelori... |
ORPHA:1777 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Micrognathia, Large fontanelles, Median cleft lip and palate, Mandibular a... |
ORPHA:1832 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... |
OMIM:102510 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Micrognathia, Microphthalmia, Simplified gyral pattern, Proptosis, Cerebral atrop... |
OMIM:616171 |
Galloway-Mowat Syndrome |
|
Micrognathia, Abnormal intervertebral disk morphology, Adducted thumb, Hypotelorism, Macrotia, Hy... |
ORPHA:2065 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Low hanging columella, Bulbous nose, Hydrocephalus, Thin corpus callosum, Cerebellar hypoplasia, ... |
OMIM:619512 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Intrauterine growth retardation, Abnormality of the diencephalon, Holoprosenceph... |
ORPHA:2570 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Micrognathia, Hypertelorism, Frontal bossing, Hydrocephalus, Orbital c... |
ORPHA:1538 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sco... |
ORPHA:3268 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Microphthalmia, Brachycephaly, Kyphoscoliosis, Short nose, Macrotia, Narrow palate,... |
OMIM:614222 |
Gombo Syndrome |
|
Microphthalmia, Radial deviation of finger, Microcephaly, Clinodactyly, Delayed puberty, Brachyda... |
OMIM:233270 |
Microcephaly, Autosomal Dominant |
|
Hypotelorism, Broad hallux, Broad thumb, Protruding ear, Microcephaly |
OMIM:156580 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Prominent nose, High palate, Depressed nasal bridge, Hemivertebrae, Mandibular prognathia, Abnorm... |
ORPHA:2180 |
Craniofacial Dyssynostosis |
|
Underdeveloped nasal alae, Micrognathia, Craniosynostosis, Hypertelorism, Wide nasal bridge, Fron... |
ORPHA:1516 |
Tonne-Kalscheuer Syndrome |
|
Prominent nose, Micrognathia, Velopharyngeal insufficiency, Malar flattening, Prominent nasal bri... |
OMIM:300978 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Micrognathia, High palate, Trigonocephaly, Cerebral white matter atrophy, Short nose, Hypoteloris... |
ORPHA:329178 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Depressed nasal ridge, Microphthalmia, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of ... |
OMIM:300863 |
Hadziselimovic Syndrome |
|
High palate, Hypotelorism, Posteriorly rotated ears, Prominent nasal bridge, Anal atresia, Cerebe... |
OMIM:612946 |
Spinal Dysplasia, Anhalt Type |
|
Spinal dysplasia, Osteoarthritis of the small joints of the hand, Coxa vara, Absent spinous proce... |
OMIM:601344 |
Oculodentodigital Dysplasia |
|
Carious teeth, Cleft palate, Thin anteverted nares, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Underdeveloped nasal alae, Micrognathia, High palate, Pectus carinatum, Hypotelorism, Hypertelori... |
OMIM:300986 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger,... |
ORPHA:163649 |
Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Premature anterior fontanel closure, Dandy-Walker malformation, High palate, Dysge... |
OMIM:619435 |
Aminopterin Syndrome Sine Aminopterin |
|
Micrognathia, Cleft palate, High palate, Megalencephaly, Rudimentary postaxial polydactyly of han... |
OMIM:600325 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Prominent nasal tip, Pineal cyst, Micrognathia, Depressed nasal bridge, Cleft palate, Metatarsus ... |
ORPHA:513456 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Large earlobe, Conductive hearing impairment, Micrognathia, Morphological abnormality of the midd... |
ORPHA:79113 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Microtia, third degree, Micrognathia, Microphthalmia, Hemivertebrae, Anophthalmi... |
ORPHA:3412 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Micrognathia, Microphthalmia, Thin ribs, Abnormality of the calcaneus, Hyp... |
ORPHA:163966 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Cleft palate, Microphthalmia, Anophthalmia, Cleft ala nasi, Congenital... |
OMIM:164180 |
Holoprosencephaly 1 |
|
Aplasia of the nose, Microphthalmia, Diabetes insipidus, Median cleft lip and palate, Hypoteloris... |
OMIM:236100 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Cleft palate, Finger syndactyly, Abnormal mandible morphology, Camptodactyly of finger, Plagiocep... |
ORPHA:2215 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... |
ORPHA:1436 |
Seckel Syndrome 7 |
|
Abnormality of the carpal bones, Prominent nose, Central hypothyroidism, Hypotelorism, Hip dyspla... |
OMIM:614851 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Osteogenesis Imperfecta, Type Vi |
|
Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa vara, Vertebral compression fractur... |
OMIM:613982 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Intrauterine growth retardation |
OMIM:619033 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Hypotelorism, Posteriorly rotated ears, Simplified gyral pattern, Progressive microcephaly, Cereb... |
OMIM:615760 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Adams-Oliver Syndrome 2 |
|
Micrognathia, Depressed nasal bridge, Microphthalmia, Hypertelorism, Bulbous nose, Polymicrogyria... |
OMIM:614219 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... |
ORPHA:1802 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Microphthalmia With Limb Anomalies |
|
Cleft palate, Short nose, Low-set ears, Toe syndactyly, High palate, Hand oligodactyly, Depressed... |
OMIM:206920 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Microphthalmia, Brachycephaly, Hypogonadism, Retrognathia, Microcephaly |
ORPHA:2528 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Abnormality of the pinna, Congenital hip dislocation, Kyphosis, Macrocephaly, Polym... |
OMIM:618291 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Cleft palate, Hearing impairment, Bulbous nose, Cerebellar hypoplasia, Low-set ears, Choanal atre... |
OMIM:300968 |
Baraitser-Winter Syndrome 1 |
|
Overfolded helix, Short nose, Iris coloboma, Anteverted nares, Low posterior hairline, Low-set ea... |
OMIM:243310 |
Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Malar flattening, Iris coloboma, Low posterior hairline, L... |
ORPHA:2789 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Adducted thumb, Rocker bottom foot, Flexion contracture of toe, Kyphoscoliosis, Low... |
OMIM:610758 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Broad nasal tip, Microphthalmia, Hypoplastic frontal sinuses, Shor... |
OMIM:136760 |
Pelvis-Shoulder Dysplasia |
|
Bilateral external ear deformity, Cleft palate, Retinal coloboma, Prominent protruding coccyx, Ab... |
ORPHA:2839 |
Schilbach-Rott Syndrome |
|
Prominent nose, Micrognathia, Long nose, Hypotelorism, Posteriorly rotated ears, Bifid uvula, 2-3... |
OMIM:164220 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Micrognathia, High palate, Pectus excavatum, Hypotelorism, Hearing impairment, Hyperthyroidism, S... |
ORPHA:502423 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Bresek Syndrome |
|
Plagiocephaly, Convex nasal ridge, Cleft palate, Aganglionic megacolon, Hemivertebrae, Microphtha... |
ORPHA:85284 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Duodenal atresia, Bulbous nose, Syndactyly, Anteverted nares, Low-set ears, Choanal atresia, Colo... |
OMIM:616975 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Cleft palate, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Wide nasal bridge, ... |
ORPHA:1797 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
14Q22Q23 Microdeletion Syndrome |
|
Short 5th metacarpal, Abnormality of the hypothalamus-pituitary axis, Malar flattening, Hearing i... |
ORPHA:264200 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Broad nasal tip, Anophthalmia, Hypoplasia of the pons, Prominent ear helix, Promin... |
ORPHA:411986 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Abnormal form of the vertebral bodies, Short nose, Camptodactyly of finger, Short ... |
ORPHA:1327 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Underdeveloped nasal alae, Micrognathia, Depressed nasal ridge, Pectus excavatum, ... |
ORPHA:77300 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Micrognathia, High palate, Hypoplastic scapulae, Rhizomelia, Scapu... |
OMIM:602471 |
Craniosynostosis 2 |
|
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Trigonocephaly, Cleft soft palate, Cranio... |
OMIM:604757 |
Baller-Gerold Syndrome |
|
Brachyturricephaly, Cleft palate, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radi... |
ORPHA:1225 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea, Cerebral atrophy |
OMIM:212840 |
Microphthalmia, Syndromic 12 |
|
Micrognathia, Broad nasal tip, Microphthalmia, Anophthalmia, Wide nasal bridge, Retrognathia, Cry... |
OMIM:615524 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Pectus excavatum, Adducted thumb, Large fontanelles, Brachycephaly, Hypotelorism, Macrotia, Wormi... |
OMIM:219150 |
Cockayne Syndrome Type 2 |
|
Hypoplasia of the primary teeth, Mandibular prognathia, Anophthalmia, Macrotia, Hearing impairmen... |
ORPHA:90322 |
Walker-Warburg Syndrome |
|
Cleft palate, Iris coloboma, Polymicrogyria, Hydrocephalus, Cerebellar hypoplasia, Low-set ears, ... |
ORPHA:899 |
Holoprosencephaly 11 |
|
Cleft palate, Holoprosencephaly, Hypotelorism, Proptosis, Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Micrognathia, Brachycephaly, Short nose, Hypertelorism, Wide nasal bridge, Clinoda... |
OMIM:618577 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Micrognathia, Meckel diverticulum, Chorioretinal coloboma, Abnormal ce... |
ORPHA:163961 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Malar flattening, Low-set ears, Small epiphyses, Anterior rib cupping, Depressed nasal bridge, Hi... |
OMIM:300232 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Progressive macrocephaly, Depressed nasal bridge, Megalencephaly, Microphthalmia, ... |
OMIM:602501 |
Joubert Syndrome 37 |
|
High palate, Microphthalmia, Postaxial polydactyly, Prominent metopic ridge, Wide nose, Hypertelo... |
OMIM:619185 |
Ring Chromosome 10 Syndrome |
|
Large earlobe, Micrognathia, Aganglionic megacolon, Pectus excavatum, Microphthalmia, Tapered fin... |
ORPHA:1438 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Micrognathia, Brachycephaly, Trigonocephaly, Bifid nose, Bulbous nose, Prominent metopic ridge, B... |
OMIM:275595 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Hypotelorism, Prominent nasal bridge, Low-set ears, Clinodactyly of the 5... |
OMIM:618974 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short nose, Malar flattening, Hydrocephalus, Turricephaly, Cerebral atrophy, Anteverted nares, Lo... |
ORPHA:171839 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Round ear, Micrognathia, Depressed nasal bridge, Duodenal atresia, Rhizomelia, Short nose, Cranio... |
OMIM:614114 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Malar prominence, Micrognathia, Convex nasal ridge, Pectus excavatum, Abnormal clavicle morpholog... |
ORPHA:2522 |
Spondylosis, Cervical |
|
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
3-Hydroxyisobutyric Aciduria |
|
Micrognathia, Intrauterine growth retardation, Hypogonadotropic hypogonadism, Triangular face, Ap... |
ORPHA:939 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Chronic otitis media, Abnormal dental enamel morphology, ... |
ORPHA:1452 |
Lateral Meningocele Syndrome |
|
Malar flattening, Low-set ears, Umbilical hernia, Meningocele, Conductive hearing impairment, Mic... |
OMIM:130720 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Frontal bossing, Low-set ears, Hypotelorism, Microcephaly |
OMIM:618718 |
Craniofrontonasal Dysplasia |
|
Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Camptodactyl... |
ORPHA:1520 |
Coffin-Siris Syndrome 12 |
|
Ridged cranial sutures, Noncommunicating hydrocephalus, Slender finger, Low hanging columella, Hi... |
OMIM:619325 |
Basal Cell Nevus Syndrome |
|
Cleft palate, Abnormal sternum morphology, Short ribs, Iris coloboma, Hydrocephalus, Short 4th me... |
OMIM:109400 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Mental Retardation, Autosomal Recessive 5 |
|
Underdeveloped nasal alae, Prominent nose, Hypotelorism, Hypertelorism, Wide nasal bridge, Promin... |
OMIM:611091 |
Hartsfield Syndrome |
|
Cleft palate, Depressed nasal bridge, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia... |
ORPHA:2117 |
Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Low-set, posteriorly ro... |
ORPHA:1528 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... |
ORPHA:2182 |
Craniofacial Microsomia |
|
Conductive hearing impairment, Micrognathia, Cleft palate, Microphthalmia, Hemivertebrae, Block v... |
OMIM:164210 |
Sprengel Deformity |
|
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Spina bifida occulta... |
OMIM:184400 |
Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Depressed nasal bridge, Cleft palate, Abnor... |
ORPHA:2635 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Protruding ear, Cleft palate, Hypotelorism, Hypertelorism, Kyphosis, Cerebellar ver... |
OMIM:619123 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Short nose, Hearing impairment, Bulbous nose, Cerebral atrophy, Camptodactyly, Low-set ears, Prot... |
OMIM:309590 |
Pycnodysostosis |
|
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Prominent nose, ... |
OMIM:265800 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Dandy-Walker malformation, Micrognathia, Cleft palate, Hypoplastic nipples, Depressed nasal bridg... |
OMIM:156610 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Sandestig-Stefanova Syndrome |
|
Convex nasal ridge, High palate, Microphthalmia, Rocker bottom foot, Angulated antihelix, Trigono... |
OMIM:618804 |
Gorlin Syndrome |
|
Carious teeth, Vertebral fusion, Vertebral wedging, Hemivertebrae, Mandibular prognathia, Brachyc... |
ORPHA:377 |
Prader-Willi Syndrome Due To Translocation |
|
Carious teeth, Cleft palate, Short nose, Anterior pituitary hypoplasia, Anteverted nares, Deeply ... |
ORPHA:177907 |
Weyers Acrofacial Dysostosis |
|
Hypotelorism, Prominent antihelix, Postaxial foot polydactyly, Postaxial hand polydactyly, Short ... |
OMIM:193530 |
Meckel Syndrome, Type 1 |
|
Cleft palate, Iris coloboma, Foot polydactyly, Adrenal hypoplasia, Syndactyly, Hydrocephalus, Cer... |
OMIM:249000 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Convex nasal ridge, Brachycephaly, Abnormal sacrum morphology, Abn... |
ORPHA:93262 |
Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Brachycephaly, Mandibular prognathia, Velopharyngeal... |
OMIM:182290 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cleft palate, Microphthalmia, Long fingers, Hypertelorism, Low-set, posteriorly r... |
ORPHA:1617 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Depressed nasal bridge, Diaphyseal thickening, Wide nasal bridge, ... |
ORPHA:1513 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Micrognathia, Cleft palate, Depressed nasal bridge, Hemivertebrae, Bra... |
OMIM:220210 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Hearing impairment, Low hanging columella, Macular hypoplasia, Anteverted nares, Low-set ears, Mi... |
OMIM:613792 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Charge Syndrome |
|
Cleft palate, Overfolded helix, Delayed eruption of teeth, Hearing impairment, Iris coloboma, Apl... |
ORPHA:138 |
Cousin Syndrome |
|
2-3 toe syndactyly, Cleft palate, Prominent protruding coccyx, Microglossia, Hydrocephalus, Campt... |
OMIM:260660 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Convex nasal ridge, Cleft palate, Microphthalmia, Oligodactyly, Humeroradial synost... |
OMIM:251230 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Microphthalmia, Syndromic 6 |
|
Short middle phalanx of finger, Cleft palate, Microglossia, Abnormality of the hypothalamus-pitui... |
OMIM:607932 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Pachygyria, Postnatal growth retardation, Agyria, Gray matter heterotopia, Liss... |
OMIM:300067 |
3P25.3 Microdeletion Syndrome |
|
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... |
ORPHA:435638 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Anteverted ears, Kyphoscoliosis, Abnormality of the pinna, Coloboma, Microcephaly |
OMIM:300915 |
Kennerknecht Syndrome |
|
Toe syndactyly, Convex nasal ridge, High palate, Hypotelorism, Abnormality of the pinna, Toe clin... |
OMIM:600908 |
Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Microphthalmia, Brachycephaly, Prominent nasal bridge, Deeply set eye... |
OMIM:615663 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Abnormal form of the vert... |
ORPHA:2790 |
Marden-Walker Syndrome |
|
Pyloric stenosis, Cleft palate, Abnormal sternum morphology, Cerebellar hypoplasia, Camptodactyly... |
OMIM:248700 |
2Q23.1 Microduplication Syndrome |
|
Prominent nasal tip, Prominent nose, Hypotelorism, Sandal gap, Abnormality of the outer ear, Bulb... |
ORPHA:313947 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormality of the vertebral column, Abnormal auditory evoked potentials, Brachycephaly, Rieger a... |
OMIM:109120 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Abnormality of the hypothalamu... |
ORPHA:139471 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short nose, Hearing impairment, Anteverted nares, Umbilical hernia, Conductive hearing impairment... |
OMIM:616331 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Hartsfield Syndrome |
|
Cleft palate, Diabetes insipidus, Lobar holoprosencephaly, Wide nose, Craniosynostosis, Hypotelor... |
OMIM:615465 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Cleft palate, Short thorax, Hearing impairment, Short long bone, Microretrognathia... |
OMIM:618363 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Temple Syndrome |
|
Micrognathia, Cleft palate, Depressed nasal bridge, High palate, Maturity-onset diabetes of the y... |
OMIM:616222 |
Mmep Syndrome |
|
Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Cryptorchidism, Microcephaly, Split foot |
ORPHA:3434 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Low-set ears, Hypoplasia of the corpus callosum, Hypotelorism, Microcephaly |
ORPHA:477673 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Elevated circulating parathyroid hormone level, Thickened ribs, Depressed nasal bridge, Mandibula... |
OMIM:122860 |
16P11.2P12.2 Microdeletion Syndrome |
|
Toe syndactyly, Absent nasal bridge, Long nose, Chronic otitis media, Short nose, Abnormality of ... |
ORPHA:261211 |
Femoral-Facial Syndrome |
|
Cleft palate, Short nose, Aplasia/Hypoplasia of the corpus callosum, Abnormality of pelvic girdle... |
ORPHA:1988 |
Mosaic Trisomy 8 |
|
Cleft palate, Hearing impairment, Camptodactyly of finger, Anteverted nares, Protruding ear, Vert... |
ORPHA:96061 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pyloric stenosis, Delayed eruption of teeth, Hearing impairment, Low hanging columella, Camptodac... |
OMIM:619148 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Cleft palate, Abnormal form of the vertebral bodies, Finger syndactyly, Hypoplas... |
ORPHA:1106 |
Martsolf Syndrome 1 |
|
Slender ulna, Short toe, Hypoplasia of the maxilla, Short phalanx of finger, Micrognathia, High p... |
OMIM:212720 |
Chromosome 16Q22 Deletion Syndrome |
|
Micrognathia, High palate, Depressed nasal bridge, Hypertelorism, Posteriorly rotated ears, Wormi... |
OMIM:614541 |
Koolen-De Vries Syndrome |
|
Pyloric stenosis, Cleft palate, Anteverted ears, Overfolded helix, Slender finger, Bulbous nose, ... |
OMIM:610443 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Convex nasal ridge, Cleft palate, Brachycephaly, Webbed neck, Short nose, Malar fla... |
ORPHA:2145 |
Monosomy 13Q14 |
|
Micrognathia, Microphthalmia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Trigonocephaly,... |
ORPHA:1587 |
Distal 22Q11.2 Microduplication Syndrome |
|
Bulbous nose, Hydrocephalus, Camptodactyly of finger, Low posterior hairline, Low-set ears, Protr... |
ORPHA:261337 |
Fraser Syndrome 1 |
|
Cutaneous finger syndactyly, Cleft palate, Aplasia/Hypoplasia of the thumb, Midline nasal groove,... |
OMIM:219000 |
2Q31.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Abnormality of the ulna, Cleft palate, Abnormality of the hypothalamus-pitu... |
ORPHA:251014 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Hallermann-Streiff Syndrome |
|
Malar flattening, Iris coloboma, Low-set ears, Underdeveloped nasal alae, Micrognathia, Narrow no... |
OMIM:234100 |
Tetraamelia-Multiple Malformations Syndrome |
|
Micrognathia, Microphthalmia, Septo-optic dysplasia, Missing ribs, Anal atresia, Aplasia/Hypoplas... |
ORPHA:3301 |
Cerebrooculonasal Syndrome |
|
High palate, Brachycephaly, Anophthalmia, Hypertelorism, Macrotia, Low-set, posteriorly rotated e... |
ORPHA:66625 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, High palate, Thin ribs, Hypertelorism, Platyspondyly, Wormian bones, Kyphosis, ... |
OMIM:616294 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Asymmetry of the thorax, Delayed eruption of teeth, Delayed cranial suture closure,... |
ORPHA:2780 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Trichothiodystrophy |
|
Carious teeth, Partial agenesis of the corpus callosum, High, narrow palate, Protruding ear, Cran... |
ORPHA:33364 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Micrognathia, Broad nasal tip, Depressed nasal bridge, High palate, Chronic otitis media, Promine... |
ORPHA:480907 |
Frontorhiny |
|
Cleft palate, Microphthalmia, Diabetes insipidus, Hypoplastic frontal sinuses, Hypertelorism, Low... |
ORPHA:391474 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Micrognathia, Bowing of the long bones, Abnormal form of the vertebr... |
ORPHA:2050 |
Focal Dermal Hypoplasia |
|
Cleft palate, Hypoplastic nipples, Short metatarsal, Midclavicular hypoplasia, Short ribs, Delaye... |
OMIM:305600 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cleft palate, Hearing impairment, Camptodactyly, Cerebral atrophy, Anteverted nares, Vertebral se... |
OMIM:611209 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Microcephaly |
ORPHA:2435 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the thumb, High palate, Holoprosencephaly, Hypoplasia of t... |
ORPHA:556955 |
Branchiooculofacial Syndrome |
|
Pyloric stenosis, Short nasal septum, Cleft palate, Agenesis of cerebellar vermis, Retinal colobo... |
OMIM:113620 |
Monosomy 9P |
|
Abnormality of the vertebral column, Cleft palate, Short nose, Malar flattening, Proximal placeme... |
ORPHA:261112 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Narrow nose, Midface retrusion, Wormian bones, Delayed eruption of teeth, Prominent... |
OMIM:601812 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Posterior rib fusion, Missing ribs, Supernu... |
OMIM:122600 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma, Microphthalmia, Wide nose, Abnormality of cartilage of external ear, Hypertelorism, Low... |
ORPHA:2399 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Micrognathia, High palate, Pectus excavatum, Webbed neck, Hypoplas... |
ORPHA:1131 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Micrognathia, Microphthalmia, Hypogonadotropic hypogonadism, Abnormality of the cervical spine, K... |
ORPHA:48431 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Micrognathia, Underdeveloped nasal alae, High palate, Wide nasal b... |
OMIM:248910 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Flat occiput, Abnormality of neuronal migration, Micrognathia, Large fontanelles, Delayed closure... |
OMIM:614887 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Micrognathia, Macrotia, Clinodactyly, Deeply set eye, Hypoplasia of the corpus callosum, Scoliosi... |
OMIM:300934 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Cebalid Syndrome |
|
Plagiocephaly, Depressed nasal ridge, Depressed nasal bridge, Polyphagia, Brachycephaly, Platyste... |
OMIM:618774 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Curved middle phalanx of the 4th toe, Hypotelorism, Hypertelorism, Arachn... |
ORPHA:276413 |
Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Pectus excavatum, Depressed nasal bridge, Midface retrusion, Brachycephaly, Low pos... |
OMIM:179613 |
Stevenson-Carey Syndrome |
|
Underdeveloped nasal alae, Prominent nasal tip, Coloboma, Microphthalmia, Brachycephaly, Posterio... |
OMIM:611961 |
Diabetic Embryopathy |
|
Micrognathia, Cleft palate, Abnormal sacrum morphology, Abnormality of the neck, Low-set, posteri... |
ORPHA:1926 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, High palate, Genu varum, Megalencephaly, Broad long bones, Mandibular prognathia, ... |
OMIM:269300 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Bowing of the long b... |
ORPHA:1798 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hearing impairment, Finger syndactyly, Complete duplication of thumb p... |
ORPHA:568 |
Craniosynostosis 6 |
|
Plagiocephaly, Dandy-Walker malformation, Brachycephaly, Craniosynostosis, Hypertelorism, Abnorma... |
OMIM:616602 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Flat occiput, Webbed neck, Hypotelorism, Deeply set eye, Clinodactyly, Microcephaly |
OMIM:603585 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Prominent nose, Long nose, Mandibular prognathia, Hypotelorism, Macrotia, Frontal bossing, Cerebe... |
OMIM:300486 |
Distal Monosomy 7Q36 |
|
Micrognathia, Cleft palate, Pectus excavatum, Holoprosencephaly, Symphalangism affecting the phal... |
ORPHA:1636 |
Raine Syndrome |
|
Brachyturricephaly, Cleft palate, Short nose, Malar flattening, Hydrocephalus, Long hallux, Low-s... |
OMIM:259775 |
Crouzon Disease |
|
Conductive hearing impairment, Convex nasal ridge, Midface retrusion, Brachycephaly, Abnormal sac... |
ORPHA:207 |
Isolated Trigonocephaly |
|
Trigonocephaly, Hypotelorism, Wide nasal bridge |
ORPHA:3366 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Large fleshy ears, Short nose, Short ribs, Cerebellar hypoplasia, Anteverted nares,... |
OMIM:616897 |
1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Cleft palate, Holoprosencepha... |
ORPHA:250999 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Craniosynostosis, Prominent nasal bridge, Basal ganglia calcification, Hypoplasia of the maxilla,... |
OMIM:608432 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Micrognathia, Cleft palate, Depressed nasal bridge, Coronal cleft vertebrae, Epiphyseal stippling... |
OMIM:215100 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Pectus excavatum, Protruding ear, Cleft palate, Microphthalmia, Retinal coloboma, Short nose, Hyp... |
OMIM:618571 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Lissencephaly, Sensorineural hearing impairment, Abnormally large globe, Progress... |
OMIM:615249 |
Pentasomy X |
|
Plagiocephaly, Micrognathia, Hypertelorism, Small hand, Low-set, posteriorly rotated ears, Wide n... |
ORPHA:11 |
Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Increased intervertebral space, Cleft palate, Short greater sciat... |
OMIM:256050 |
Triploidy |
|
Meningocele, Micrognathia, Cleft palate, Holoprosencephaly, Macroglossia, Hypertelorism, Low-set,... |
ORPHA:3376 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Decreased calvarial ossification, Cleft palate, Absent nasal bridge, ... |
OMIM:617925 |
Jacobsen Syndrome |
|
Pyloric stenosis, Short nose, Iris coloboma, Macular hypoplasia, Hydrocephalus, Anteverted nares,... |
OMIM:147791 |
Ring Chromosome 7 Syndrome |
|
Cleft palate, Short nose, Malar flattening, Slender finger, 3-4 toe syndactyly, Anteverted nares,... |
ORPHA:1449 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:610680 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Arrhinencephaly, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnormal... |
ORPHA:2538 |
Moebius Syndrome |
|
Lower limb undergrowth, Syndactyly, Camptodactyly, Abnormality of pelvic girdle bone morphology, ... |
OMIM:157900 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebral bodies, Sho... |
ORPHA:2311 |
Cornelia De Lange Syndrome 5 |
|
Cleft palate, Proximal placement of thumb, Hearing impairment, Anteverted nares, Deeply set eye, ... |
OMIM:300882 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Cleft palate, Hand oligodactyly, High palate, Proximal radial head dislocation, Hyp... |
OMIM:602418 |
Trisomy 8P |
|
Cleft palate, Short nose, Clinodactyly of the 5th toe, Short 1st metacarpal, Hydrocephalus, Antev... |
ORPHA:264450 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Cerebral atrophy, Coloboma, Agenesis of corpus callosum, Microcephaly |
OMIM:274270 |
Ck Syndrome |
|
Micrognathia, High palate, Malar flattening, Posteriorly rotated ears, Prominent nasal bridge, Ky... |
OMIM:300831 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Cleft palate, 1-2 toe syndactyly, Overfolded helix, Short nose, Broad hallux, Camptodactyly, Ante... |
OMIM:301044 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Holoprosencephaly, Anterior pituitary hypoplasia, Hypoplasia of the... |
ORPHA:563612 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Limb undergrowth, Hypotelorism, Short middle phalanx of the 5th finger, Bilateral... |
ORPHA:319675 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Cleft palate, Ectopic anus, Abnormal sacrum morphology, Abno... |
ORPHA:2345 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morphology, Hypoplasia of the pons... |
ORPHA:280195 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Large earlobe, Microphthalmia, Brachycephaly, Mandibular prognathia, Tapered finger, Hyperteloris... |
ORPHA:1236 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Micrognathia, High palate, Pectus excavatum, Brachycephaly, Prominent nasal bridg... |
ORPHA:776 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Cervical platyspondyly, Colpocephaly, Hypertelorism, Broad neck, Polymicrogyria, C... |
OMIM:618731 |
Mohr Syndrome |
|
Cleft palate, Metaphyseal irregularity, Malar flattening, Syndactyly, Hydrocephalus, Hypoplasia o... |
OMIM:252100 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Heart And Brain Malformation Syndrome |
|
Dandy-Walker malformation, High, narrow palate, Depressed nasal bridge, Microphthalmia, Global br... |
OMIM:616920 |
Distal Monosomy 13Q |
|
Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly |
ORPHA:1590 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Charge Syndrome |
|
Arrhinencephaly, Absent tibia, Cleft palate, Duodenal atresia, Retinal coloboma, Malar flattening... |
OMIM:214800 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
Achondrogenesis Type 1B |
|
Micrognathia, Short nose, Short thorax, Cystic hygroma, Frontal bossing, Thickened nuchal skin fo... |
ORPHA:93298 |
Distal Monosomy 10P |
|
Micrognathia, Convex nasal ridge, Cleft palate, Ectopic anus, Webbed neck, Polycystic ovaries, Ma... |
ORPHA:1580 |
6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Micrognathia, Cleft palate, High palate, Rocker bottom foot, Hypertelorism, Low-se... |
ORPHA:251056 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Infertility, Primary amenorrhea, Azoospermia |
OMIM:229070 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Cleft palate, Depressed nasal bridge, Microphthalmia, 2-3 toe syndactyly, Brachycep... |
ORPHA:404440 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Pectus excavatum, Brachycephaly, Limb undergrowth, Kyphoscoliosis, Thin calvarium, Brachydactyly,... |
OMIM:122900 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Cleft palate, Delayed eruption of teeth, Hearing impairment, Intussusception, Low... |
OMIM:135900 |
Apert Syndrome |
|
Ovarian neoplasm, Brachyturricephaly, Cleft palate, Cloverleaf skull, Aplasia/Hypoplasia of the t... |
ORPHA:87 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft palate, Short ribs, Cerebellar hypoplasia, Microretrognathia, Unicoronal synostosis, Flat a... |
OMIM:616300 |
Pycnodysostosis |
|
Carious teeth, Decreased serum insulin-like growth factor 1, Midface retrusion, Obtuse angle of m... |
ORPHA:763 |
Mosaic Trisomy 1 |
|
Small anterior fontanelle, Cleft palate, Deviation of the 5th toe, Broad toe, Complete duplicatio... |
ORPHA:1692 |
Mend Syndrome |
|
2-3 toe syndactyly, Abnormal auditory evoked potentials, Cleft palate, Hydrocephalus, Broad hallu... |
ORPHA:401973 |
Meckel Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Hydroc... |
ORPHA:564 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, High, narrow palate, Pectus excavatum, Mandibular prognathia, Anophthalmia, Anirid... |
ORPHA:1101 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Simple ear, Hemivertebrae, Anal atresia, Low hanging columella, Sacral dimple, Unilateral microph... |
OMIM:619318 |
Fibrochondrogenesis 1 |
|
Broad ischia, Cleft palate, Short nose, Malar flattening, Short ribs, Camptodactyly, Anteverted n... |
OMIM:228520 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Hypoplastic acetabulae, Finger syndactyly, Hip subluxation, ... |
ORPHA:93323 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Cleft palate, Microphthalmia, Abnormal vertebral morphology, Finger syndactyly, T... |
ORPHA:261272 |
49,Xyyyy Syndrome |
|
Micrognathia, Radioulnar synostosis, Trigonocephaly, Finger clinodactyly, Hypertelorism, Low-set,... |
ORPHA:99330 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia ... |
ORPHA:1908 |
Fraser Syndrome |
|
Midline nasal groove, Finger syndactyly, Atresia of the external auditory canal, Vertebral segmen... |
ORPHA:2052 |
Galloway-Mowat Syndrome 9 |
|
Hypotelorism, Macrotia, Hypertelorism, Thin corpus callosum, Hiatus hernia, Low-set ears, Seconda... |
OMIM:619603 |
Cockayne Syndrome Type 1 |
|
Hypoplasia of the primary teeth, Mandibular prognathia, Anophthalmia, Macrotia, Absent brainstem ... |
ORPHA:90321 |
Osteogenesis Imperfecta, Type Xii |
|
Progressive hearing impairment, Brachyturricephaly, Micrognathia, High palate, Depressed nasal br... |
OMIM:613849 |
Chromosome 10Q26 Deletion Syndrome |
|
Low posterior hairline, Low-set ears, Protruding ear, Prominent nose, Micrognathia, Toe syndactyl... |
OMIM:609625 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... |
ORPHA:3344 |
Micro Syndrome |
|
Micrognathia, High palate, Microphthalmia, Retinal coloboma, Short nose, Macrotia, Low-set, poste... |
ORPHA:2510 |
Melnick-Needles Syndrome |
|
Short thorax, Delayed eruption of teeth, Hearing impairment, Anisospondyly, Delayed cranial sutur... |
ORPHA:2484 |
Whistling Face Syndrome, Recessive Form |
|
Underdeveloped nasal alae, Micrognathia, High palate, Shoulder flexion contracture, Ulnar deviati... |
OMIM:277720 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Brachyturricephaly, Hydrocephalus, Camptodactyly, Anteverted nares, Hypoplasia of the maxilla, Um... |
OMIM:182212 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
|
Cleft palate, Short nose, Malar flattening, Multiple small bowel atresias, Slender finger, Turric... |
OMIM:218649 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Hypogonadotropic hypogonadism, Hypertelorism, Abnormality of the pinna, Promine... |
ORPHA:3068 |
Renpenning Syndrome |
|
Round ear, Prominent nose, Cleft palate, High, narrow palate, Pectus excavatum, Mandibular progna... |
ORPHA:3242 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Micrognathia, Underdeveloped nasal alae, Cleft palate, Wide nose, ... |
ORPHA:398156 |
Trisomy 9P |
|
Brachycephaly, Hypertelorism, Macrotia, Kyphosis, Short neck, Clinodactyly of the 5th finger, Sac... |
ORPHA:236 |
Aicardi Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Block vertebrae, Protruding e... |
ORPHA:50 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Micrognathia, Convex nasal ridge, Macrotia, Hypogonadism, Patellar hypoplasia, Protruding ear, Sc... |
OMIM:251240 |
Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Micrognathia, Microphthalmia, Chorioretinal coloboma, Hypertelorism, Bi... |
ORPHA:268249 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Dandy-Walker malformation, Bicoronal synostosis, Brachycephaly, Delayed closure of ... |
OMIM:618736 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Hearing impairment, Elevated c... |
OMIM:101800 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormality of the vertebral column, Conductive hearing impairment, Micrognathia, Broad nasal tip... |
OMIM:239800 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Maternal Phenylketonuria |
|
Micrognathia, High palate, Bifid distal phalanx of the thumb, Hypotelorism, Wide nasal bridge, Es... |
ORPHA:2209 |
Juberg-Hayward Syndrome |
|
Dandy-Walker malformation, Toe syndactyly, Abnormal vertebral morphology, Hammertoe, Wide nose, H... |
ORPHA:2319 |
Fetal Alcohol Syndrome |
|
Micrognathia, Cleft palate, Microphthalmia, Short nose, Low-set, posteriorly rotated ears, Anteve... |
ORPHA:1915 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Polymicrogyria, Agyria, Cerebellar hypoplasia, Remnants of the hyaloid vascular sy... |
OMIM:614643 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
OMIM:309620 |
Coffin-Siris Syndrome 6 |
|
Plagiocephaly, Conductive hearing impairment, Micrognathia, Broad nasal tip, Depressed nasal brid... |
OMIM:617808 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Mandibular prognathia, Short columella, Short nose... |
ORPHA:1248 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Microphthalmia, Postaxial polydactyly, Hypertelorism, Malar flattening... |
OMIM:614424 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Brachycephaly, Anteriorly placed anus, Low-set, posteriorly rotate... |
ORPHA:1488 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly, Microcephaly |
OMIM:245552 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Macrotia, Microcephaly, Narrow palate, Proptosis, Abnormal cerebral white matter m... |
OMIM:617481 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Holoprosencephaly, Absent septum pellucidum |
OMIM:601357 |
Cat-Eye Syndrome |
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Microphthalmia, Chorioretinal coloboma, Hypertelorism, Anal atresia, Hearing impairment, Iris col... |
ORPHA:195 |
Muscle-Eye-Brain Disease |
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Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Vici Syndrome |
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High palate, Hypoplasia of the pons, Hypotelorism, Hypertelorism, Sensorineural hearing impairmen... |
ORPHA:1493 |
Malan Overgrowth Syndrome |
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Plagiocephaly, Pectus excavatum, High palate, Depressed nasal bridge, Optic disc hypoplasia, Low ... |
ORPHA:420179 |
Microphthalmia, Syndromic 2 |
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Adrenal insufficiency, 2-3 toe syndactyly, Anteverted ears, Asymmetry of the ears, Delayed erupti... |
OMIM:300166 |
Ring Chromosome 21 Syndrome |
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Holoprosencephaly, Microcephaly |
ORPHA:1445 |
Axial Mesodermal Dysplasia Spectrum |
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Micrognathia, Abnormal intestine morphology, Abnormal form of the vertebral bodies, Missing ribs,... |
ORPHA:1834 |
Myopathy, Congenital, Bailey-Bloch |
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Conductive hearing impairment, Micrognathia, Cleft palate, High palate, Midface retrusion, Brachy... |
OMIM:255995 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Missing ribs, Block vertebr... |
OMIM:613686 |
Rere-Related Neurodevelopmental Syndrome |
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Micrognathia, Microphthalmia, Chorioretinal coloboma, Low-set, posteriorly rotated ears, Hearing ... |
ORPHA:494344 |
Isolated Cleft Lip |
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Conductive hearing impairment, Supernumerary maxillary incisor, Chronic otitis media, Velopharyng... |
ORPHA:199302 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Dilated third ventricle, 2-3 toe syndactyly, Cleft palate, Finger syndactyly, Cerebral atrophy, A... |
ORPHA:464738 |
Spermatogenic Failure 12 |
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Infertility, Azoospermia |
OMIM:615413 |
Amyotrophy, Hereditary Neuralgic |
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Cleft palate, Depressed nasal bridge, Hypotelorism, Low-set ears, Deeply set eye, Long nasal bridge |
OMIM:162100 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Cleft palate, Hearing impairment, Coloboma, Vertebral segmentation defect, Plagiocephaly, Underde... |
ORPHA:453499 |
X-Linked Intellectual Disability, Najm Type |
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Micrognathia, Chorioretinal coloboma, Optic nerve hypoplasia, Hypertelorism, Macrotia, Wide nasal... |
ORPHA:163937 |
Pallister-Hall Syndrome |
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Cleft palate, Short nose, Microglossia, Distal shortening of limbs, Adrenal hypoplasia, Syndactyl... |
OMIM:146510 |
Treacher-Collins Syndrome |
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Abnormality of the vertebral column, Cleft palate, Thyroid hypoplasia, Hypoplasia of the thymus, ... |
ORPHA:861 |
Monosomy 9Q22.3 |
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Abnormality of the vertebral column, Pectus excavatum, Thickened ears, Microphthalmia, Metopic sy... |
ORPHA:77301 |
White-Kernohan Syndrome |
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Underdeveloped nasal alae, Dysplastic corpus callosum, Simple ear, Midface retrusion, Depressed n... |
OMIM:619426 |
Seckel Syndrome 1 |
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Small anterior fontanelle, Cleft palate, Abnormally large globe, 11 pairs of ribs, Low-set ears, ... |
OMIM:210600 |
Hermansky-Pudlak Syndrome 10 |
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Hypotelorism, Macrotia, Retrognathia, Cerebral atrophy, Low-set ears, Microcephaly |
OMIM:617050 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Underdeveloped nasal alae, Micrognathia, Convex nasal ridge, Brachycephaly, Metaphyseal widening,... |
OMIM:263210 |
Kbg Syndrome |
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Underdeveloped nasal alae, Vertebral fusion, Hypertelorism, Macrotia, Radial deviation of finger,... |
OMIM:148050 |
Spermatogenic Failure 1 |
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Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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Micrognathia, High palate, Pectus carinatum, Hypertelorism, Malar flattening, Low-set, posteriorl... |
ORPHA:98791 |
Aicardi Syndrome |
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Dilated third ventricle, Cleft palate, Proximal placement of thumb, Polymicrogyria, Block vertebr... |
OMIM:304050 |
Mcdonough Syndrome |
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Underdeveloped nasal alae, Micrognathia, Prominent nose, Pectus excavatum, Mandibular prognathia,... |
ORPHA:2471 |
Spermatogenic Failure 36 |
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Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Lissencephaly, Pachygyria, Hyp... |
OMIM:613153 |
Hydranencephaly |
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Stiff neck, Infantile sensorineural hearing impairment, Abnormal corpus striatum morphology, Atro... |
ORPHA:2177 |
Cerebrofaciothoracic Dysplasia |
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Cleft palate, Bifid ribs, Hemivertebrae, Brachycephaly, Wide nose, Short nose, Low-set, posterior... |
ORPHA:1394 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
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Subcortical band heterotopia, Pachygyria, Progressive microcephaly, Bulbous nose, Midface retrusi... |
OMIM:618737 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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