Dwarfism With Tall Vertebrae |
|
Increased vertebral height, Coxa vara |
OMIM:126950 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypogonadotropic hypogonadism, Abnorma... |
ORPHA:1387 |
Holoprosencephaly |
|
Flat occiput, Anophthalmia, Short neck, Depressed nasal ridge, Panhypopituitarism, Abnormal form ... |
ORPHA:2162 |
Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Anophthalmia, Brachycephaly, High palate, Conductive hearing impair... |
OMIM:605627 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Hemivertebrae, Hypotelorism, Holoprosencephaly, Agenesis of corpus callosum, ... |
OMIM:264480 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Flat occiput, Abnormality of the ear, Brachycephaly, Abnormal finger morph... |
ORPHA:2511 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Microcephaly, Alobar holoprosencephaly... |
OMIM:609637 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp... |
OMIM:147250 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Hypotelorism, Holoprosen... |
OMIM:157170 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Short neck, Micrognathia, Pectus carinatum, Hypotelorism, Clinodactyly of ... |
ORPHA:3082 |
Trisomy 18 |
|
Webbed neck, Pointed helix, Holoprosencephaly, Iris coloboma, Low-set, posteriorly rotated ears, ... |
ORPHA:3380 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Depressed nasal ridge, Brachycephaly, Hypotelorism, Deeply set eye, Clinod... |
OMIM:618672 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Single naris, Cleft pal... |
OMIM:142945 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Frontal bossing, Cloverleaf skull, Bowing of the long bones, Rhizom... |
ORPHA:93267 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, Prominent nasal bridge, Broad nasal tip, Short neck, Microcephaly, Micrognathia, H... |
OMIM:613544 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Cyclopia... |
ORPHA:280200 |
Trisomy 1Q |
|
Anophthalmia, Hypotelorism, Agenesis of corpus callosum, Microretrognathia, Depressed nasal bridg... |
ORPHA:261344 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Hypotelorism, Deeply set eye, Vertebral segmentation defect, High palate, Holoprosencephaly, Depr... |
OMIM:612530 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology, Hypotelor... |
ORPHA:276422 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Cyclopia, Absent nares,... |
ORPHA:990 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Microc... |
ORPHA:3186 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Adrenal hypoplasia, Micrognathia, Hypotelorism, Absent nares, Holoprosencephaly, Abnormality of t... |
ORPHA:2166 |
Trisomy 13 |
|
Anophthalmia, High, narrow palate, Hypotelorism, Deeply set eye, Narrow chest, Iris coloboma, Cry... |
ORPHA:3378 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Hypotelorism, Clinodactyly of the 5th ... |
OMIM:614701 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Alobar holoprosencephaly, Micrognath... |
OMIM:301043 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Microcephaly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Aplasia/H... |
ORPHA:1702 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... |
ORPHA:2980 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Microc... |
OMIM:612940 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology |
ORPHA:163665 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Microcephaly, Pectus excavatum, Brachycephaly, Cleft palate, Hypotelorism,... |
OMIM:268850 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Short neck, Hydrocephalus, Clinodactyly, Hypotelorism, Deeply set eye, Low-set... |
ORPHA:251046 |
Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypotelorism, Hy... |
OMIM:610828 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Increased vertebral heig... |
OMIM:616817 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Abnormality of the malleus, Triphalangeal th... |
ORPHA:949 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Microcephaly, Depressed nasal r... |
OMIM:613885 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Flat distal femoral epiphysis, Flat capital femoral epiphysis, Schmorl's node, Irregular distal f... |
OMIM:614135 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Hypertelorism, Microcephaly, Radial club hand, Cleft palate, P... |
ORPHA:2165 |
Holoprosencephaly 14 |
|
Frontal bossing, Anteverted nares, Absent septum pellucidum, Proboscis, Microcephaly, Alobar holo... |
OMIM:619895 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Short neck, Micrognathia, Clinodactyly, Hypotelorism, Hypoplasia of the brainstem, Hypothyroidism... |
ORPHA:391408 |
Distal Deletion 10Q |
|
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clinodactyly, Short metatarsal, Brach... |
ORPHA:96148 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Single naris, Panhy... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Single naris, Panhy... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Single naris, Panhy... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Single naris, Panhy... |
ORPHA:220386 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Frontal bossing, Brachydactyly, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hyperte... |
OMIM:613604 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Posteriorly rotated ears, Craniosynostosis, Hypertelorism, Long fi... |
OMIM:613174 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Short neck, Micrognathia, High, narrow pala... |
OMIM:620156 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Ab... |
ORPHA:1104 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cyclopia, Microcephaly, Pectus excavatum, Cryptorchidis... |
ORPHA:261236 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Hypote... |
OMIM:218670 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Thoracic scoliosis, Prominent nose, Hypoplasia of the pons, Microcephaly, Partial agenesis of the... |
OMIM:616171 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micromelia, Micrognath... |
ORPHA:2189 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Microcephaly, Pectus ... |
ORPHA:1695 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, Hypotelorism, Deeply set eye, High palate, Narrow greater sciatic notch, Conductive... |
OMIM:602471 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Prominent nasal bridge, Cam... |
ORPHA:1703 |
Proboscis Lateralis |
|
Anophthalmia, Single naris, Abnormality of the maxillary sinus, High palate, Holoprosencephaly, C... |
ORPHA:141099 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Genu varum, Hypotelorism, Coronal cleft vertebrae, Abnormal calvaria mo... |
ORPHA:1952 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Wide nasal ridge, Uplifted earlobe, Short neck, Abnormal cortical gyrat... |
ORPHA:487825 |
Alkuraya-Kucinskas Syndrome |
|
Micrognathia, Hypotelorism, Webbed neck, Hypoplasia of the brainstem, High palate, Dandy-Walker m... |
OMIM:617822 |
Cranioectodermal Dysplasia |
|
Frontal bossing, Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morph... |
ORPHA:1515 |
Mosaic Trisomy 9 |
|
Micromelia, Short neck, Micrognathia, Hemivertebrae, Hypotelorism, Finger clinodactyly, High pala... |
ORPHA:99776 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... |
OMIM:601812 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Hypotelorism, Tr... |
ORPHA:794 |
Braddock Syndrome |
|
Congenital muscular torticollis, Posteriorly rotated ears, Missing ribs, Pectus excavatum, Short ... |
ORPHA:52047 |
Pierpont Syndrome |
|
Short neck, Brachycephaly, Large fleshy ears, Deeply set eye, Short palm, Prominent fingertip pad... |
OMIM:602342 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Anteverted nares, Overlapping toe, Kyphoscoliosis, Microcephaly, Mi... |
OMIM:600118 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Cerebral white matter atrophy, Micrognathia, Hypotelorism, Secondary microcephaly, Cerebellar hyp... |
OMIM:615042 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Frontoocular Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus excavatum, Hypotelorism, P... |
OMIM:605321 |
Developmental And Epileptic Encephalopathy 87 |
|
Prominent nose, Hypertelorism, Bulbous nose, Cerebral atrophy, Hypotelorism, High palate, Scolios... |
OMIM:618916 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Oculocerebrocutaneous Syndrome |
|
Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Cryptorchidism, Abnormal thorax morphol... |
OMIM:164180 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Esophageal atresia, Hydrocephalus, Cryptorchidism, Hemivertebrae,... |
ORPHA:77298 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Frontal bossing, Pectus excavatum, Bulbous nose, Hypotelorism, Plagiocephaly, Lateral ventricle d... |
OMIM:618330 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Cerebellar hypoplasia, Low-set ears... |
OMIM:616570 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Hypotelorism, Webbed neck, Conductive hearing impairment, Advanc... |
ORPHA:2215 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morpholog... |
ORPHA:2180 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Diabetes mellitus, Posteriorly rotated ears, Depressed nasal bridge, Rocke... |
OMIM:618622 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, High... |
OMIM:206920 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Hypoplastic iliac wing, Metaphyseal cupping, Hydro... |
OMIM:300863 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Abnormal pinna morphology, Microcephaly, Pectus excavatum, Micrognathia, Bulbous n... |
OMIM:614104 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Short neck, Hypertelorism, Wide nasal bridge, Mild microcephaly, Hypotelorism, Abnormal cerebral ... |
OMIM:613192 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... |
OMIM:604864 |
Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Coloboma, Conductive hearing impairment, Agenesis of corpus callosum, ... |
OMIM:136760 |
Baraitser-Winter Syndrome 2 |
|
Abnormal pinna morphology, Short neck, Hypertelorism, Retrognathia, Coloboma, Lissencephaly, Seco... |
OMIM:614583 |
Monosomy 18P |
|
Kyphoscoliosis, Short neck, Pectus excavatum, Microcephaly, Micrognathia, Carious teeth, Brachyce... |
ORPHA:1598 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, ... |
ORPHA:163966 |
Endocrine-Cerebroosteodysplasia |
|
Adrenal hypoplasia, Micrognathia, Micromelia, Preaxial polydactyly, Hypotelorism, Tibial bowing, ... |
OMIM:612651 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Proboscis, Microcephaly, Alobar holoprosencephaly, Adrenal hypoplasia, Hypote... |
OMIM:236100 |
Vissers-Bodmer Syndrome |
|
Intrauterine growth retardation, Holoprosencephaly |
OMIM:619033 |
Trigonocephaly 1 |
|
Craniosynostosis, Microcephaly, High, narrow palate, Wide nasal bridge, Hypotelorism, Lumbar hemi... |
OMIM:190440 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Abnormal occipital bone morphology, Hypoplasia of the pons, Cortical dyspl... |
ORPHA:468631 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:615524 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... |
OMIM:601344 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachydactyly, Craniosynostosis, Microcephaly, Coxa valga, Brachycephaly, Hypotelorism, Hypoplast... |
ORPHA:2163 |
Ritscher-Schinzel Syndrome 4 |
|
Hypertelorism, Tapered finger, Cryptorchidism, Hip dislocation, Wide nasal bridge, Brachycephaly,... |
OMIM:619435 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Fifth finger distal phalanx clinodactyly, Wide nasal bridge, M... |
ORPHA:3369 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypotelorism, Hypoplasia of the corpus callosum, Scoliosis, Cerebral wh... |
OMIM:619091 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Posteriorly rotated ears, Sagittal craniosynostosis, Wide nasal bridge, Hypotelorism, High palate... |
OMIM:314320 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Anterior pituitary hypoplasia, Hemivertebrae, Coloboma, Agenesis of corpus callosum... |
OMIM:206900 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Hypotelor... |
OMIM:619719 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Harrod Syndrome |
|
Arachnodactyly, Microcephaly, Long nose, Kyphosis, Cryptorchidism, Dental malocclusion, Protrudin... |
ORPHA:2115 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Cerebral calcification, Proximal placement of thumb, Micrognathia, ... |
ORPHA:628 |
Trisomy 18P |
|
Abnormal pinna morphology, Microcephaly, Underdeveloped nasal alae, High, narrow palate, Pyloric ... |
ORPHA:1715 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Aqueduct... |
OMIM:619512 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Micrognathia, Brachycephaly, Thoracic kyphosis, Narrow chest, High palate, Abnormal f... |
ORPHA:163649 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Arachnodactyly, Hyperlordosis, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Pectus car... |
OMIM:300986 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microcephaly, Abnormal nostril morphology, Hypotelorism, Micro... |
ORPHA:3469 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Deeply set eye, Hypoplastic iliac wing, Cl... |
OMIM:260660 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Sacral dimple, Craniosynostosis, Short neck, Underdeveloped nasal alae, Microgna... |
ORPHA:1516 |
Galloway-Mowat Syndrome |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Microcephaly, Hiatus hernia, Aq... |
ORPHA:2065 |
Cofs Syndrome |
|
Cerebral calcification, Camptodactyly of finger, Short neck, Abnormal nasal morphology, Microceph... |
ORPHA:1466 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Prominent nasal bridge, Microcephaly, Prominent nose, Micrognathia, Ve... |
OMIM:300978 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Cerebral calcification, Micrognathia, Clinod... |
ORPHA:2710 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Temtamy Syndrome |
|
Brachydactyly, Dolichocephaly, Micrognathia, Hypertelorism, Short toe, Aplasia/Hypoplasia of the ... |
ORPHA:1777 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Microcephaly, Micrognathia, Metatarsus adductus, Osteop... |
ORPHA:513456 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Short neck, Broad nas... |
OMIM:615583 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Lateral Meningocele Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bodies, High palate... |
ORPHA:2789 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... |
ORPHA:2064 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Hypertelorism, Pectus excavatum,... |
OMIM:219150 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Brachycephaly, Sho... |
ORPHA:264200 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Simplified gyral pattern, Wide na... |
OMIM:615760 |
Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki... |
OMIM:613982 |
Seckel Syndrome 7 |
|
Microcephaly, Prominent nose, Abnormal carpal morphology, Hypotelorism, Central hypothyroidism, H... |
OMIM:614851 |
Baraitser-Winter Syndrome 1 |
|
Short neck, Chorioretinal coloboma, Pachygyria, Agenesis of corpus callosum, Iris coloboma, Antev... |
OMIM:243310 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueduct... |
ORPHA:3412 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Chromosome 13Q14 Deletion Syndrome |
|
Micrognathia, Anteverted ears, Hypotelorism, High palate, Holoprosencephaly, Chorioretinal colobo... |
OMIM:613884 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, Hypotel... |
ORPHA:1225 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Preaxial h... |
ORPHA:79113 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Aganglionic megacolon, Sandal gap, Short neck, Pectus excavatum, Micrognathia, H... |
ORPHA:1438 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Microcephaly, Micrognathia, Hypertelorism, Bulbous nose, Hydrocephalus, C... |
OMIM:614219 |
Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
ORPHA:177907 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis... |
ORPHA:3268 |
Hadziselimovic Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Microcephaly, Hypotelorism, H... |
OMIM:612946 |
Frontorhiny |
|
Hypoplasia of the maxilla, Finger clinodactyly, Basal encephalocele, Iris coloboma, Low-set, post... |
ORPHA:391474 |
Bresek Syndrome |
|
Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorch... |
ORPHA:85284 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Micr... |
ORPHA:1528 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Spina bif... |
OMIM:184400 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Micrognathia, Pectus excavatum, Hypotelorism, High palate, Cerebellar hypoplasia... |
ORPHA:502423 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Posteriorly rotated ears, Microcephaly, Hypotelorism, Secondary microcephaly, High palate, Hypopl... |
OMIM:616281 |
Walker-Warburg Syndrome |
|
Anophthalmia, Protruding ear, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Dandy-Walker ... |
ORPHA:899 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Hypotelorism, Prominent antihelix, Postaxial foot polydactyly, Short ... |
OMIM:193530 |
Gombo Syndrome |
|
Microcephaly, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachyda... |
OMIM:233270 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Hypertelorism, Cryptorchidism, Hydrocephalus, Clinodactyly, Unila... |
OMIM:618577 |
Holoprosencephaly 11 |
|
Microcephaly, Cleft palate, Hypotelorism, Proptosis, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:614226 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Prominent nose, Brachycephaly, Hypotelorism, Bifid uvula, Dandy-Walker malformation, Depressed na... |
OMIM:300968 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg... |
ORPHA:2635 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... |
ORPHA:1452 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Cerebral white matter atrophy, Micrognathia, Dental malocclusion, Hypotelorism, High palate, Cere... |
ORPHA:329178 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
2Q23.1 Microduplication Syndrome |
|
Broad hallux, Sandal gap, Prominent nose, Bulbous nose, Hypotelorism, Clinodactyly of the 5th fin... |
ORPHA:313947 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Diffuse cerebral atrophy, Prominent nasal bridge, Kyphoscoliosis, Prom... |
OMIM:214150 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Camptodactyly of finger, Hypertelorism, Short ... |
ORPHA:1617 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Depressed nasal bridge, Decreased response to growth hormone stimulation test, C... |
OMIM:614114 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Hypotelorism, Deeply set eye,... |
OMIM:616975 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thor... |
ORPHA:1797 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Craniodiaphyseal Dysplasia |
|
Frontal bossing, Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide... |
ORPHA:1513 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Hypoplasia of the pons, ... |
ORPHA:411986 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Brachycephaly, High palate, Hypogonadism, Microphthalmia, Retrognathia |
ORPHA:2528 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Mandibular prognathia, Brachycephaly, Abnormal form of the vertebral bodies, Pe... |
ORPHA:1327 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Aplasia/Hypoplasia of the cerebellum, Hypertelori... |
ORPHA:93262 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrena... |
OMIM:220210 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Hypotelorism, Low-set ear... |
OMIM:616395 |
Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Depressed nasal bridge, Craniosynostosis, Hyper... |
ORPHA:2117 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, Hypotelorism, Deeply set eye, Hippocampal atrophy, High palate, Hyp... |
OMIM:619325 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the se... |
ORPHA:138 |
Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Microcephaly, Long nose, Prominent nose, Micrognathia, Submucous cleft ... |
OMIM:164220 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Hemivertebrae, Abnormal sternum morphology, Parietal bossing, Iris colobom... |
OMIM:109400 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Microcephaly... |
ORPHA:2522 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Frontal bossing, Toe syndactyly, Anteverted nares, Abnormal pinna morphology, ... |
ORPHA:261211 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Intestinal malrotation, Underdeveloped nasal alae, Pectus excavatum, K... |
ORPHA:77300 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Thoracic scoliosis, Syndactyly, Posteriorly rotated ears, Rudimentary postaxial ... |
OMIM:600325 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Sensorineural hearing... |
ORPHA:2790 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hypotelorism, Frontal bossing, Low-set ears, Microcephaly |
OMIM:618718 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Short neck, Microcephaly, Micrognathia, Depressed nas... |
ORPHA:1832 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Hyperte... |
OMIM:122860 |
Lateral Meningocele Syndrome |
|
Short neck, Micrognathia, High palate, Conductive hearing impairment, Vertebral fusion, Abnormali... |
OMIM:130720 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Overlapping toe, Hypotelorism, Hypoplasia of the ... |
OMIM:618974 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Clinodactyly, Brachycephaly, Protruding ear, Hypotelorism, Deeply set eye, High pal... |
OMIM:309590 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism,... |
ORPHA:90322 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Short neck, Aqueductal stenosis, Micrognathia, Simplified gyral pattern, Narrow chest... |
OMIM:251230 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Cryptorchidism, Senso... |
ORPHA:139471 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Hypertelorism, Postaxial hand polydactyly, Brach... |
ORPHA:66625 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Hypotelorism, Deeply se... |
OMIM:618454 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Depressed nasal bridge, Absent septum pellucidum, Diabetes insipidus, Microce... |
OMIM:618500 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Hypertelorism, Micromelia, Split... |
ORPHA:2145 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Narrow pelvis bone, Irregular vertebral ... |
OMIM:187760 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Meckel diverticulum, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Age... |
ORPHA:163961 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Micrognathia, Microcephaly, Cryptorchidism, Bowing of the legs, Scaphocephaly, Metaph... |
OMIM:617164 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Posteriorly rotated ears, Diabetes insipidus, Craniosynostosis, Microcepha... |
OMIM:615465 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Posterior rib fusion, S... |
OMIM:122600 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Prominent nose, Hypertelorism, 4... |
OMIM:611091 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ... |
ORPHA:556955 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Marden-Walker Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Abnormal sternum morphology, Hypoplasia of the bra... |
OMIM:248700 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Depressed nasal ridge, Brachycephaly, High palate, Clinodactyly of ... |
ORPHA:1520 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Mosaic Trisomy 8 |
|
Short neck, Micrognathia, Protruding ear, Deeply set eye, Vertebral segmentation defect, High pal... |
ORPHA:96061 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly, High palate, Chorioretina... |
OMIM:234100 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Turricephaly, Delayed eruption of teeth, Crumpled l... |
ORPHA:2050 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Depressed nasal bridge, Megalencephaly, Hypertelorism, Hydrocephalus, Progressive mac... |
OMIM:602501 |
Temtamy Syndrome |
|
Frontal bossing, Lop ear, Micrognathia, Hypertelorism, Hip dislocation, Thick corpus callosum, Hy... |
OMIM:218340 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Glossoptosis, Vertebr... |
OMIM:611209 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Joubert Syndrome 37 |
|
Frontal bossing, Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Cer... |
OMIM:619185 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormally ossified vertebrae, Septo-optic dysplasia, Miss... |
ORPHA:3301 |
Moebius Syndrome |
|
Abnormal nasopharynx morphology, Short neck, Micrognathia, Hypoplasia of the brainstem, High pala... |
OMIM:157900 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Overlapping toe, Short neck, Pectus excavatum, Hypertelorism,... |
OMIM:618571 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Short neck, Micrognathia, Hypotelorism, Lobulated to... |
OMIM:249000 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Prominent nose... |
ORPHA:435638 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Kyphosis, Hypertelorism, Cryptorchidism... |
OMIM:619123 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micrognathia, Brachycephaly, Pectus carinatum, Abnormal septum pellucidum morphology, Short palm,... |
ORPHA:171839 |
Non-Syndromic Metopic Craniosynostosis |
|
Trigonocephaly, Wide nasal bridge, Hypotelorism |
ORPHA:3366 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Abnormal thymus morphology, Choana... |
OMIM:219000 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Webbed neck, Deeply s... |
ORPHA:261337 |
1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Hypergonadotropic hypogonadism, Underdeveloped nasal ala... |
ORPHA:250999 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Cerebral calcification, Hypogonadotropi... |
ORPHA:377 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Micrognathia, Brachycephaly, Anteriorly placed anus, Deeply set eye, High palate, Narrow chest, A... |
OMIM:619148 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches... |
OMIM:616300 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Brachycephaly, Hypotelorism, Holoprosencephaly, Clinodactyly of the 5th fi... |
ORPHA:1449 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Micrognathia, Brachycephaly, Anotia, High palate, Agenes... |
ORPHA:261112 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Rocker bottom foot, Kyphoscoliosis, Microcephaly, Prominent nose, Micrognathia, Camptodactyly of ... |
OMIM:610756 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Posteriorly rotated ears, Short neck, Pectus excavatum, Microcephaly, Mic... |
OMIM:156610 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Simplified gyral pattern, Deeply set eye, Dislocated radial head, Bilateral microph... |
OMIM:610758 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... |
ORPHA:2345 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Frontal bossing, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Hypertelorism, Bulbo... |
OMIM:620098 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Hypotelorism, Hypoplasia of the corpus callosum, Low-set ears, Microcephaly |
ORPHA:477673 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Short neck, Clinodactyly, Wide nasal bridge, High palate, Low-set ears, Angul... |
OMIM:618804 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Convex nasal ridge, Hypertelorism, Hypoplasia of ... |
ORPHA:207 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted... |
ORPHA:228390 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Koolen-De Vries Syndrome |
|
Anteverted ears, Hypotelorism, High palate, Prominent fingertip pads, Vertebral fusion, Cryptorch... |
OMIM:610443 |
Trichothiodystrophy |
|
Craniosynostosis, Microcephaly, Cerebral dysmyelination, High, narrow palate, Partial agenesis of... |
ORPHA:33364 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ... |
OMIM:305600 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Hypertelorism, Hypoplasia of the maxilla, Co... |
OMIM:109120 |
Septopreoptic Holoprosencephaly |
|
Megalencephaly, Hypoplasia of the pons, Microcephaly, Precocious puberty, Perisylvian polymicrogy... |
ORPHA:280195 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Micrognathia, Hypertelorism, Bulbous n... |
OMIM:615656 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Down-sloping shoulders, Microcephaly, Pectus excavatum, Micrognathia... |
OMIM:619694 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Proximal placement of thumb, Short neck, Micrognathia, Conductive hearing impairmen... |
OMIM:113620 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, High palate, Anteverted nares, Depressed nasal bridge,... |
OMIM:613792 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Frontal bossing, Cerebellar vermis hypoplasia, Prominent nose, Long nose, ... |
OMIM:300486 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... |
OMIM:300232 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Hemivertebrae,... |
OMIM:214800 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Coloboma, Vertebral segmentation defect, Sho... |
ORPHA:251014 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Broad nasal tip, Tap... |
OMIM:619680 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Hypoplasia of ... |
ORPHA:861 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Hypotelorism, Deeply set eye, Anteverted nares, Broad hallux, Tapered finger, Scoliosis, Retrogna... |
OMIM:301044 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ... |
OMIM:212720 |
Jacobsen Syndrome |
|
Flat occiput, Short neck, Micrognathia, Holoprosencephaly, Chorioretinal coloboma, Clinodactyly o... |
OMIM:147791 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Camptodactyly of finger, Short neck, Microcephaly, Micrognathia, Aplasia/Hypopla... |
ORPHA:2570 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Chronic si... |
OMIM:620356 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Hypotelorism, Retrognathia, Protruding ear, Prominent nose |
OMIM:619691 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Microc... |
ORPHA:398156 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Amyotrophy, Hereditary Neuralgic |
|
Depressed nasal bridge, Cleft palate, Hypotelorism, Deeply set eye, Low-set ears, Long nasal bridge |
OMIM:162100 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Micrognathia, Absent thumb, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Thickened helices, Sh... |
ORPHA:1587 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Brachycephaly, Hypotelorism, Deeply set eye, Hypoplasia of the thymus, ... |
OMIM:264090 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Pectus excavatum, High, narrow pala... |
ORPHA:1101 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Hypoplastic ischia, Micrognathia, Metaphyseal cupping, Cupped ... |
OMIM:614524 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of ... |
ORPHA:1988 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Hypertelorism, Pectus excavatum, Kyphosis, Hydr... |
OMIM:616294 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Alobar holoprosencephaly, Hypertelorism, Kyphosis, Cryptorchidism, B... |
OMIM:615433 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Uplifted earlobe, Micrognathia, Adrenal hypoplasia, Brachycephaly, Protruding ear, ... |
OMIM:607932 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Short neck, Prominent nose, Micrognathia, Brachycephaly, Protruding ear, H... |
OMIM:612474 |
Fraser Syndrome |
|
Cleft ala nasi, Anophthalmia, Vertebral segmentation defect, High palate, Conductive hearing impa... |
ORPHA:2052 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring... |
OMIM:156530 |
Meckel Syndrome |
|
Anophthalmia, Micrognathia, Depressed nasal ridge, Dandy-Walker malformation, Low-set, posteriorl... |
ORPHA:564 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Frontal bossing, Anteverted nares, Micromelia, Short neck, Micrognath... |
ORPHA:93298 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Frontal bossing, Microretrognathia, Curved middle phalanx of the 4th toe, D... |
ORPHA:276413 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Pectus excavatum, Microg... |
ORPHA:1131 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... |
ORPHA:1248 |
Cat-Eye Syndrome |
|
Hypertelorism, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Ir... |
ORPHA:195 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Brachycephaly, Long thorax... |
OMIM:617925 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Micrognathia, Abnormal nasal mo... |
ORPHA:404440 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis, Microcephaly, Anteverted ears, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:300915 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Cebalid Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Platystencephaly, Brachycephaly, Depresse... |
OMIM:618774 |
Distal Monosomy 7Q36 |
|
Short neck, Pectus excavatum, Microcephaly, Bulbous nose, Micrognathia, Cryptorchidism, Cleft pal... |
ORPHA:1636 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, High, narrow palate, Pectus carinatum, Cavum septum pellucidum, Dilated th... |
ORPHA:464738 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr... |
ORPHA:1488 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Frontal bossing, Microcephaly, Micrognathia, Cryptorchidism, A... |
ORPHA:1926 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Anisospondyly, Hypertelorism, Short thorax, Abnormal rib morphology, ... |
ORPHA:2484 |
Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Abnormal Eustachian tube morphology, Supernumerary maxillary inciso... |
ORPHA:199302 |
Glutathionuria |
|
Agenesis of corpus callosum, Hypotelorism |
OMIM:231950 |
Coffin-Siris Syndrome 1 |
|
Partial agenesis of the corpus callosum, Brachycephaly, Hypotelorism, Prominent interphalangeal j... |
OMIM:135900 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Beaded ribs, Short neck, Micrognathia, Brachycephaly, Large fleshy ears, Anteverted nares, Hypert... |
OMIM:616897 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Abnormally large globe, Sensorineural hearing impairment, Hydrocephalus, Coloboma, ... |
OMIM:615249 |
Craniosynostosis 6 |
|
Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Hyper... |
OMIM:616602 |
Trisomy 8P |
|
Short fourth metatarsal, Short neck, Aplasia/Hypoplasia of the gallbladder, Conductive hearing im... |
ORPHA:264450 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Flat occiput, Microcephaly, Hypotelorism, Deeply set eye, Webbed neck, Clinodactyly |
OMIM:603585 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Deeply set eye, Promin... |
OMIM:618494 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Abnormal shoulder morphology, Long thorax, Chorioretinal coloboma, ... |
ORPHA:568 |
Mmep Syndrome |
|
Mandibular prognathia, Microcephaly, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia |
ORPHA:3434 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Rocker bottom foot, Camptodactyly o... |
ORPHA:251056 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Partial agenesis of the corpus callosum, Deeply set eye, Hypoplasia of the brainstem, Pachygyria,... |
OMIM:614643 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal widening, Pectus cari... |
OMIM:182212 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Short neck, Brachycephaly, High palate, Syndactyly, Depressed nasal bridge... |
ORPHA:369891 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis,... |
ORPHA:48431 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Anteverted nares, Uplifted earlobe, Microcephaly, Hypertelorism, Kyphosis, Microphthalmia, 2-3 to... |
OMIM:616449 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Micrognathia, Choanal stenosis, Severe sensorineural hearing ... |
OMIM:620186 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Prominent nasal bridge, Ag... |
OMIM:614424 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... |
ORPHA:1908 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Anteverted nares, Microcephaly, Hypertelorism, Protruding ear, Plagioceph... |
OMIM:618731 |
Mend Syndrome |
|
Micrognathia, High palate, Abnormal nasal bridge morphology, Dandy-Walker malformation, Broad hal... |
ORPHA:401973 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Hypotelorism, ... |
OMIM:181270 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Depressed nasal bridge, Micromelia, Microcephaly, Microg... |
OMIM:241800 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Microcephaly, Prominent nose, Abnormal carpal morphology, Hypotelorism, Bilateral breast hypoplas... |
ORPHA:319675 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Frontal bossing, Posteriorly rotated ears, Depressed nasal bridge, Decreased response... |
OMIM:241410 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Thoracic hemivertebrae, Short middle phalanx of finger, Scoliosis |
OMIM:309620 |
Three M Syndrome 2 |
|
Short neck, Pectus carinatum, Protruding ear, High palate, Scapular winging, Lumbar hyperlordosis... |
OMIM:612921 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... |
ORPHA:2616 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Postnatal growth retardation, Cryptorchidism, Brachycephaly, Intraute... |
OMIM:615419 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Protruding ear, Chorioretinal coloboma, Aplasia/Hypoplas... |
ORPHA:50 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hypertelorism, Hydrocephalus, Tracheoesophageal fistula, Bifid thoracic vertebrae, ... |
ORPHA:268249 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Lumbar hyperlordosis, Optic nerve hypoplasia, Olivopontocerebellar hypop... |
ORPHA:370959 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastr... |
ORPHA:2538 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Micrognathia, Hyperte... |
OMIM:617866 |
Lig4 Syndrome |
|
Microcephaly, Prominent nose, Hypothyroidism, Cryptorchidism, Wide nasal bridge, Brachycephaly, H... |
OMIM:606593 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Delayed eruption of pri... |
ORPHA:90321 |
Fibrochondrogenesis |
|
Micromelia, Short neck, Abnormal form of the vertebral bodies, Narrow chest, Broad ribs, Antevert... |
ORPHA:2021 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Supernumerary nipple, Microcepha... |
ORPHA:1236 |
Alazami Syndrome |
|
Wide nose, Severe short stature, Depressed nasal bridge, Wide nasal bridge, Retractile testis, Ma... |
OMIM:615071 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Brachycephaly, Coloboma, H... |
OMIM:611961 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Congenital hip dislocatio... |
OMIM:618291 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ... |
OMIM:619426 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Cerebellar vermis hypoplasia, Bilateral cryptorchidism... |
OMIM:613451 |
Trisomy 12P |
|
Thickened nuchal skin fold, Turricephaly, Supernumerary nipple, Short neck, Micrognathia, Hyperte... |
ORPHA:1699 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Finger clinodactyly, Absent distal interphalang... |
ORPHA:1692 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Short neck, Micrognathia, Brachycephaly, Short palm, Clinodactyly o... |
OMIM:620073 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Vertebral hypoplasia, En... |
OMIM:108720 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Contracture of the proximal interpha... |
OMIM:300166 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Microcephaly, Cryptorchidism, Thick corpus callosum, Brachyc... |
OMIM:617798 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... |
ORPHA:90652 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:93274 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Redundant neck skin, Micrognathia, Proxima... |
ORPHA:397715 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Cerebral calcification, Micrognathia, High, narrow palate, Brachycephaly, Conductiv... |
ORPHA:2780 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... |
ORPHA:87 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Posteriorly rotated ears, Sandal gap, Microcephaly, Hypertelorism, Hypoplasia of the corpus callo... |
OMIM:300887 |
Renpenning Syndrome |
|
Mandibular prognathia, Decreased testicular size, Diabetes mellitus, Prominent nose, Pectus excav... |
ORPHA:3242 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... |
ORPHA:3258 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Short neck, Micrognathia, Bowing of the legs, Narrow chest, Anisospondyly, Encephaloc... |
ORPHA:1865 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Pectus excavatum, Cryptorchidism, Anosmia, Cleft palate, Hypotelor... |
OMIM:244200 |
Achondrogenesis Type 1A |
|
Short palm, Multiple rib fractures, Frontal bossing, Thickened nuchal skin fold, Anteverted nares... |
ORPHA:93299 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly |
ORPHA:1445 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lens, Short neck, Hyperteloris... |
ORPHA:85194 |
Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Hypotelorism, Agenesis of corpus callosum, Hypertelorism, Esophage... |
OMIM:227646 |
3C Syndrome |
|
Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Chorioretinal c... |
ORPHA:7 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Microcephaly |
ORPHA:2435 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu... |
OMIM:304050 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare... |
OMIM:619879 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Micrognathia, Long nose, Hypoplasia of the maxilla, Brachycephaly, Deeply set eye, Hypoplasia of ... |
OMIM:257850 |
Vici Syndrome |
|
Hypertelorism, Hypoplasia of the pons, Sensorineural hearing impairment, Depressed nasal tip, Hyp... |
ORPHA:1493 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Coloboma, Vertebral segmentat... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Coloboma, Vertebral segmentat... |
ORPHA:352665 |
Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Missing ribs, Micrognathia, Hydrocephalus, Hypertelorism, Abnormal rib morphology, Tr... |
ORPHA:1834 |
Malan Overgrowth Syndrome |
|
Frontal bossing, Depressed nasal bridge, Optic disc hypoplasia, Pectus excavatum, Scaphocephaly, ... |
ORPHA:420179 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Hypertelorism, Abnorma... |
ORPHA:2563 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen... |
OMIM:615771 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Prominent nasal bridge, Hypogonadotropic hy... |
ORPHA:3068 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno... |
ORPHA:1426 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 toe syndactyly, L... |
OMIM:618914 |
Steinfeld Syndrome |
|
Absent gallbladder, Hypoplasia of the ulna, Median cleft lip and palate, Abnormal pinna morpholog... |
OMIM:184705 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon... |
OMIM:101800 |
Apert Syndrome |
|
Mandibular prognathia, Delayed epiphyseal ossification, Brachycephaly, Pectus carinatum, Cutaneou... |
OMIM:101200 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Protruding ear, Hypotelorism, High palate, Narrow chest, Anteverted nares, R... |
OMIM:218330 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Coloboma, Vertebral segmentation defect, High palate, Shallow orbits, Hypothyroidism, Bifid uvula... |
ORPHA:453499 |
Muenke Syndrome |
|
Brachycephaly, Coronal craniosynostosis, High palate, Short middle phalanx of toe, Thimble-shaped... |
OMIM:602849 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly |
OMIM:245552 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Brachycephal... |
ORPHA:950 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Cerebellar vermis hypoplasia, Anteverted nare... |
ORPHA:494344 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, ... |
ORPHA:2645 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Lumbar hyperlordosis, Anteverted nares, Phalangeal dislocation, Rhizomelia, Shor... |
OMIM:264180 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Mi... |
OMIM:243605 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, ... |
OMIM:167730 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypertelorism, Abnormal rib morphology, Dol... |
ORPHA:2475 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormone stimulati... |
OMIM:616007 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Micrognathia, Abnormality of the ear, Agenesis of corpus callosum, Abnormality of t... |
ORPHA:2556 |
Warburg Micro Syndrome 3 |
|
Decreased testicular size, Kyphoscoliosis, Microcephaly, Micrognathia, Macrotia, Brachycephaly, N... |
OMIM:614222 |
Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Short neck, Microgn... |
ORPHA:3376 |
Giacheti Syndrome |
|
Hypotelorism |
OMIM:612917 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Short stature, Micrognathia, Cryptorchidism, Wide nasal bridge, Intrauterine growth retardation, ... |
OMIM:612626 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Decreased response to growth hormone stim... |
ORPHA:763 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Sensorineural hearing impair... |
OMIM:615636 |
Thanatophoric Dysplasia, Type I |
|
Short neck, Femoral bowing, Narrow chest, Cloverleaf skull, Small abnormally formed scapulae, Wid... |
OMIM:187600 |
Atelosteogenesis, Type Iii |
|
Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Radial bow... |
OMIM:108721 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetrapho... |
OMIM:215140 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, ... |
ORPHA:2510 |
Distal Deletion 13Q |
|
Encephalocele, Anencephaly, Holoprosencephaly |
ORPHA:1590 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capital femoral epiphys... |
OMIM:215150 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Depressed nasal brid... |
OMIM:151210 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Raine Syndrome |
|
Mandibular prognathia, Cerebral calcification, Micromelia, Short neck, Micrognathia, Brachycephal... |
OMIM:259775 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Broad hallux, Microcephaly, Hypertelor... |
OMIM:614105 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus... |
ORPHA:77301 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnorm... |
ORPHA:2462 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Micrognathia, Short neck, Hypertelorism, Abnormal rib morpholo... |
ORPHA:1486 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Anteverted nares, Mi... |
OMIM:619135 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Microcephaly, Low hanging columella, Bilateral microphthalmos, Hemivertebrae, Unil... |
OMIM:619318 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Coloboma, Microphthalmia, Type II ... |
ORPHA:324416 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... |
OMIM:613153 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology, Median cleft palate |
ORPHA:2432 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Frontal bossing, Abnormally ossified vertebrae, Depressed nasal b... |
ORPHA:35173 |
1Q21.1 Microdeletion Syndrome |
|
Deeply set eye, High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Iris co... |
ORPHA:250989 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Flat occiput, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of... |
ORPHA:300570 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short neck, Micrognathia, Kyphosis, Type II ... |
ORPHA:3191 |
Degcags Syndrome |
|
Prominent nose, Micrognathia, Hypotelorism, High palate, Agenesis of corpus callosum, Syndactyly,... |
OMIM:619488 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Short neck, Micrognathia, Hypertelorism, Partial agenesis of the corpus callosum... |
OMIM:620250 |
Braddock-Carey Syndrome 2 |
|
Microcephaly, Bulbous nose, Cleft palate, Atresia of the external auditory canal, Microphthalmia,... |
OMIM:619981 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Proximal place... |
OMIM:613406 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Pectus excavatum, ... |
ORPHA:776 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Depressed... |
ORPHA:1791 |
Fg Syndrome Type 1 |
|
Prominent nose, Micrognathia, Abnormal sternum morphology, High palate, Finger syndactyly, Hypert... |
ORPHA:93932 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... |
OMIM:252100 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis, Micrognath... |
ORPHA:536545 |
Dysostosis, Stanescu Type |
|
Cerebral calcification, Micromelia, Short neck, Hypoplasia of the maxilla, Brachycephaly, Abnorma... |
ORPHA:1798 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypertelorism, Hypoplasia of t... |
OMIM:123500 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Microcephaly, Micrognathia, Cleft palate, Ve... |
ORPHA:1915 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Microcephaly, Micrognathia, Hypertelorism, 2-3 toe syndactyly, Cleft palate, Abn... |
OMIM:239800 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical... |
OMIM:618469 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Coloboma, Thoracic kyphosis,... |
ORPHA:508498 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic il... |
OMIM:169550 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short stature, Midface retrusion, Broad nasal tip |
ORPHA:2776 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An... |
OMIM:164210 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Abnormal pinna morphology, Rhizomelia, Kyphoscoliosis, Short neck, Postaxial pol... |
OMIM:302960 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Hypogonadotropic hypogonadism, Triangular face, Micrognathia |
ORPHA:939 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick... |
ORPHA:79345 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph... |
ORPHA:1427 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Optic nerve hypoplasia, Short neck, Microcephaly, Decreased response to... |
OMIM:609053 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Preaxial polydactyly, Coloboma, Hypogonadism, Delay... |
ORPHA:141333 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma... |
OMIM:201000 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Abnormally large globe, Micrognathia, Hypertelorism, Hypoplastic pub... |
OMIM:614592 |
Juberg-Hayward Syndrome |
|
Wide nose, Toe syndactyly, Microcephaly, Hypertelorism, Short thumb, Hypoplasia of the radius, Ab... |
ORPHA:2319 |
Phaver Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Posteriorly rotated ears, Camptodactyly of finger, ... |
ORPHA:2876 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Abnor... |
ORPHA:175 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Brachycephaly, Decreased testicu... |
ORPHA:93950 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Short neck, Microcephaly, Micrognathia, Hyper... |
ORPHA:98791 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Microcephaly, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Hyp... |
ORPHA:2399 |
Alagille Syndrome |
|
Frontal bossing, Hypoplasia of the ulna, Micrognathia, Long nose, Hypertelorism, Cryptorchidism, ... |
ORPHA:52 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Short neck, Microcephaly... |
ORPHA:314621 |
Lymphedema, Primary, With Myelodysplasia |
|
Long fingers, Tapered finger, Webbed neck, Hypotelorism |
OMIM:614038 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Short neck, Depressed nasal ridge, Brachycephaly, Holoprosencephaly, Chron... |
ORPHA:96264 |
Galloway-Mowat Syndrome 9 |
|
Microcephaly, Hiatus hernia, Hypertelorism, Hypotelorism, Cerebral cortical atrophy, Secondary mi... |
OMIM:619603 |
Maternal Phenylketonuria |
|
Anteverted nares, Microcephaly, Micrognathia, Esophageal atresia, Bifid distal phalanx of the thu... |
ORPHA:2209 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Posteriorly rotated ears, Underdeveloped nasal alae, Short neck, Micr... |
OMIM:263210 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Intestinal malrotation, Broad nasal tip, Hypert... |
OMIM:222448 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ... |
OMIM:618736 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
Vici Syndrome |
|
Wide nose, Schizencephaly, Depressed nasal bridge, Cerebellar vermis hypoplasia, Microcephaly, Mi... |
OMIM:242840 |
Trisomy 9P |
|
Sacral dimple, Short neck, Abnormal nasal morphology, Kyphosis, Microcephaly, Hypertelorism, Brac... |
ORPHA:236 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Frontal bossing, Microretrognathia, Br... |
OMIM:200610 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... |
OMIM:602535 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of ... |
ORPHA:2547 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly |
ORPHA:1296 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Hemivertebrae,... |
OMIM:156200 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short neck, Abnormally large globe, Micrognathia, Brachycephaly, Pectus carinatum, Shoulder dislo... |
OMIM:245600 |
Larsen-Like Syndrome |
|
Frontal bossing, Kyphoscoliosis, Hypertelorism, Dental malocclusion, Brachycephaly, Cleft palate,... |
OMIM:608545 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Macroglossia, Hypoplasia of the brains... |
OMIM:613155 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, ... |
OMIM:224400 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Micrognathia, Short tubular bones of the hand, Coxa valga, Vertebral ar... |
ORPHA:85184 |
Ohdo Syndrome, X-Linked |
|
Prominent nose, Micrognathia, High palate, Narrow chest, Depressed nasal bridge, Hiatus hernia, H... |
OMIM:300895 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... |
ORPHA:3472 |
Dysosteosclerosis |
|
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... |
OMIM:224300 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short neck, Hypodysplasia of the corpus callosum, Micrognathia, Brachycephaly, Agenesis of corpus... |
OMIM:257300 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Cerebellar vermis hypoplasia, Short neck, Hypertelo... |
ORPHA:1394 |
Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Anteverted nares, Abn... |
ORPHA:2791 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Hemivertebrae, Depressed nasal ridge, Gonadotropin deficiency, Holoprosenceph... |
ORPHA:672 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Iri... |
ORPHA:193 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Short stature, Anteverted nares, Prominent nasal bridge, Aggressive ... |
OMIM:300558 |
Three M Syndrome 1 |
|
Mandibular prognathia, Frontal bossing, Triangular face, Short stature, Anteverted nares, Depress... |
OMIM:273750 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Micrognathia, Hydrocephalus, Hypertel... |
ORPHA:363700 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Deeply set eye, Hypoplastic iliac w... |
OMIM:139210 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Posteri... |
OMIM:616920 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Anteverted nares, Choanal atres... |
ORPHA:83 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Bulbo... |
ORPHA:1787 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Branchial fistul... |
ORPHA:261330 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Brachycep... |
ORPHA:3103 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor... |
ORPHA:314585 |
Grant Syndrome |
|
Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Abnormal rib mor... |
ORPHA:2097 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Clinodactyly, Conductive hearing impairment, Calvarial osteosclerosis, Depressed na... |
OMIM:616331 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Prominent nasal bridge, Broad nasal tip, Long nose, Microcephaly, Sensorineura... |
OMIM:616541 |
Fryns Syndrome |
|
Short neck, Micrognathia, High palate, Narrow chest, Clinodactyly of the 5th finger, Agenesis of ... |
ORPHA:2059 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Short distal phalanx of finger, Congenital hip dislocation, Missing ribs, Exte... |
ORPHA:1647 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Sagittal craniosynos... |
ORPHA:459061 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Intestinal malrotation, Camptodactyly of finger, Short neck, Cryptorchidism,... |
OMIM:244300 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Short neck, Dysplastic corpus callosum, Bulbous... |
ORPHA:2328 |
Atelosteogenesis Type I |
|
Micrognathia, Narrow chest, Absent or minimally ossified vertebral bodies, Rhizomelia, Hypertelor... |
ORPHA:1190 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Intestinal malrotation, Bifid nasal tip, Short... |
ORPHA:2712 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Cryptorchidism, Hydrocephalus, Brachycephaly, Abnormal shape of t... |
OMIM:218350 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Frontal bossing, Posteriorly rotated ears, Micrognathia, Congenital sensor... |
OMIM:617306 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Abnormality of the middle ear ossicles, Preax... |
ORPHA:2549 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Microcephaly, Wide nasal bridge, Cleft ... |
ORPHA:251038 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Short neck, Micrognathia, Esophageal atresia, Hydrocephalus, Hypertelorism, A... |
OMIM:614083 |
Tetrasomy 5P |
|
Pericallosal lipoma, Redundant neck skin, Anteverted nares, Posteriorly rotated ears, Short hallu... |
ORPHA:3309 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Anteverted nares, Abnormal dental enamel morphology, Hyperlordosis, Sho... |
ORPHA:582 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma |
OMIM:251505 |
Isotretinoin Syndrome |
|
Sacral dimple, Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Biparietal narrowing... |
ORPHA:2305 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, D... |
ORPHA:261272 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteosclerosis, Osteopathia s... |
OMIM:300373 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Turricephaly, Rocker bottom foot, Broad nasal tip, Pectus excavatum, Underdeveloped n... |
OMIM:272950 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydac... |
OMIM:617895 |
Isolated Exencephaly |
|
Holoprosencephaly, Hypoplasia of the frontal bone |
ORPHA:563612 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... |
ORPHA:56304 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Short neck, Micrognathia, Depressed nasal ridge... |
OMIM:608022 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Posteriorly rotated ears, Choanal atresia, Aplasia/Hypoplasia of the tongue, Missing ribs, Arachn... |
ORPHA:2759 |
Muenke Syndrome |
|
Short palm, Tarsal synostosis, Hypertelorism, High, narrow palate, Sensorineural hearing impairme... |
ORPHA:53271 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Finger syndactyly, Branchial cyst, Microcephaly, Tapered finger, Cryptorch... |
ORPHA:435938 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Megalencephaly, Abnormally large globe, Car... |
OMIM:269300 |
1Q44 Microdeletion Syndrome |
|
Frontal bossing, Optic disc hypoplasia, Intestinal malrotation, Microcephaly, Micrognathia, Hyper... |
ORPHA:238769 |
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type |
|
Bulbous nose, Thick nasal alae, Triangular face, Prominent nose |
ORPHA:293707 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism... |
OMIM:615849 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... |
OMIM:213980 |
Retinal Dystrophy With Leukodystrophy |
|
Prominent ear helix, Cleft palate, Progressive microcephaly, Hypotelorism |
OMIM:618863 |
Sclerosteosis 1 |
|
Mandibular prognathia, Frontal bossing, Cortically dense long tubular bones, Syndactyly, Depresse... |
OMIM:269500 |
Hermansky-Pudlak Syndrome 10 |
|
Microcephaly, Retrognathia, Cerebral atrophy, Hypotelorism, Low-set ears, Macrotia |
OMIM:617050 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Wide nose, Camptodactyly of finger, Underdeveloped nasal alae, Short neck, Mic... |
ORPHA:284160 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Choanal atresia, Optic nerve hypoplasia, Broad proxima... |
OMIM:607597 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Periventricular cysts, Deeply set eye, Clinodactyly of the 5th finger, ... |
ORPHA:544488 |
Congenital Disorder Of Deglycosylation 2 |
|
Sacral dimple, Cerebellar vermis hypoplasia, Sandal gap, Hamartoma of tongue, Micrognathia, Hyper... |
OMIM:619775 |
Mulibrey Nanism |
|
Frontal bossing, Wide nose, Short stature, Depressed nasal bridge, Absent frontal sinuses, Hypopl... |
OMIM:253250 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Clinodactyly, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplic... |
OMIM:268310 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Underdeveloped nasal alae, Short neck, Micrognathia, Sensorineural ... |
OMIM:614230 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m... |
OMIM:608940 |
Czeizel-Losonci Syndrome |
|
Micrognathia, High palate, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly rotat... |
ORPHA:2437 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Pectus carinatum... |
OMIM:271665 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Micromelia, Microcephaly, Hypertelorism, Cryptorchidism, Abnor... |
ORPHA:2772 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... |
OMIM:602588 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Triangular face, Short stature, Postnatal growth retardation, Severe intrauterine growth retardat... |
ORPHA:231144 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Prominent nasal bridge, Aggressive behavior, Hypoplasia of the maxilla, Cryptorchi... |
ORPHA:85279 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Micr... |
ORPHA:508488 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly |
ORPHA:3004 |
Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Microcephaly, Underdevelop... |
OMIM:617883 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Micromelia, Anisospo... |
OMIM:224410 |
Trisomy 20P |
|
Short neck, Micrognathia, Brachycephaly, Abnormal form of the vertebral bodies, Protruding ear, V... |
ORPHA:261318 |
Distal Duplication 18Q |
|
Anteverted nares, Choanal atresia, Prominent nasal bridge, Micrognathia, Carious teeth, Cryptorch... |
ORPHA:1716 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Hypertelorism, Dental ... |
OMIM:157980 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Microcephaly, Clinodactyly of the... |
OMIM:614225 |
Sweeney-Cox Syndrome |
|
Flat occiput, Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Brachycephaly, High palat... |
OMIM:617746 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia, Hearing impairment |
ORPHA:858 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Arachnodactyly, Microcephaly, Pectus excavatum, Hiatus hernia, Micrognathia, Hyp... |
OMIM:617729 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short stature, Anteverted nares, Persistence of primary teeth, Micrognathia, Aggre... |
OMIM:618342 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Prominent nasal bridge, Hypertelorism, Bilateral cryptorchidism, Sensorineur... |
OMIM:618652 |
Lissencephaly 8 |
|
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypopl... |
OMIM:617255 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Acrofrontofacionasal Dysostosis 2 |
|
Thickened nuchal skin fold, Syndactyly, Wide nose, Sacral dimple, Posteriorly rotated ears, Broad... |
OMIM:239710 |
Congenital Myopathy 19 |
|
Micrognathia, Cryptorchidism, Depressed nasal ridge, Dysphagia, Triangular face |
OMIM:618578 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly |
OMIM:614830 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Hypertelor... |
ORPHA:1135 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Short stature, Micrognathia, Oral-pharyngeal dysphagia, Den... |
OMIM:610883 |
Holoprosencephaly 4 |
|
Absent nasal septal cartilage, Semilobar holoprosencephaly |
OMIM:142946 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Hearing impairment, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Microcephaly, Mi... |
OMIM:616038 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin... |
OMIM:113650 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Shallow orbits, Short phalanx... |
OMIM:258480 |
Frontonasal Dysplasia 3 |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Brachyceph... |
OMIM:613456 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose, Subcortical band heterotopia, Pachygyria, Midface retrusion |
OMIM:618737 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Bilateral cleft lip and palate, Promin... |
OMIM:619339 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Absent frontal sinuses, Increased density of long bone diaphyses, High palate,... |
OMIM:305620 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Microcephaly, Pectus excavatum, Esophageal atresia, Submucous cleft h... |
OMIM:619227 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Short neck, Micrognathia, Abnormal form o... |
ORPHA:233 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Hypertelorism, Abnor... |
ORPHA:1553 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Narrow palate, Low poste... |
ORPHA:1323 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Cerebral calcification, Bowing of the long bones, Intestinal malro... |
ORPHA:3035 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Abnormally large globe, Hypoplasia of the pons, Micrognathia, Simplified gyral pattern, Hypoplasi... |
OMIM:300749 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Meningeal calcification, Clinodactyly of the 5th finger, Sm... |
OMIM:154780 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Uplifted earlobe, Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Depressed... |
OMIM:616734 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Coloboma, Hypoplasia of the brainstem, Pachygyria, Agenesi... |
OMIM:236670 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, Finger syndactyly, Abnormal dental... |
ORPHA:2092 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Hypertelorism, Depressed nasal ridge... |
OMIM:312150 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Abnormally large globe, Anteriorly placed anus, Hypertelorism, Tapered fin... |
OMIM:239300 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Branchiootic Syndrome |
|
Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, ... |
ORPHA:52429 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... |
OMIM:268400 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Short neck, Micrognathia, Glossoptosis, Increased head circumference, Barrel-shaped ch... |
ORPHA:94068 |
Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of... |
OMIM:101400 |
Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Shallow orbits, Broad ... |
OMIM:613848 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, High, narrow palate, Rectal prolapse, High palate, Narrow chest, Chorioretinal colo... |
OMIM:309800 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate... |
ORPHA:2250 |
Chopra-Amiel-Gordon Syndrome |
|
Triangular face, Short stature, Postnatal growth retardation, Flared nostrils, Brachycephaly, Att... |
OMIM:619504 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Flat occiput, Depressed nasal bridge, Anteverted nares, Broad nasal tip, M... |
OMIM:152950 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Thickened nuchal skin f... |
ORPHA:2916 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum... |
OMIM:303600 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Decr... |
OMIM:259440 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Pectus carinatum, High palate, Anteverted nares, Depressed na... |
ORPHA:536467 |
Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Depressed nasal bridge, Hypertelor... |
OMIM:608091 |
Atelis Syndrome 2 |
|
Frontal bossing, Sacral dimple, Remnants of the hyaloid vascular system, Prominent nose, Microcep... |
OMIM:620185 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Micrognathia, Symphalangism affecting the phalanges of the hand, Webbed neck, Vertebral segmentat... |
ORPHA:2990 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Severe short stature, Rhizomelia, Depressed nasal bridge, Micrognathia, Malar fl... |
OMIM:215100 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Thin ribs, Lissencephaly, Micro... |
OMIM:614833 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly |
OMIM:202650 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec... |
OMIM:613686 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Posteriorly rotated ears, Kyphoscoliosis, Microcephaly, Bulbous nose, Brac... |
OMIM:618644 |
Frank-Ter Haar Syndrome |
|
Flat occiput, Redundant neck skin, Anterior concavity of thoracic vertebrae, Abnormally large glo... |
OMIM:249420 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Frontal bossing, Micrognathia, Hydrocephalus, Dentinogenesis imperfe... |
OMIM:112240 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, P... |
ORPHA:2769 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... |
ORPHA:95699 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism |
OMIM:610125 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Hypertelorism, Kyphosis, Sensorineural hearing im... |
ORPHA:314588 |
Genitopalatocardiac Syndrome |
|
Microcephaly, Micrognathia, Kyphosis, Hydrocephalus, Hypertelorism, Cryptorchidism, Wide nasal br... |
ORPHA:2075 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Anteverted nares, Supernumerary nipple, Micrognathia, Pectus excavatum, Submuco... |
OMIM:619122 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Retrognathia, Flat face |
OMIM:615979 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Proximal placement of thumb, Short neck, Prominent fingertip pads, Bro... |
OMIM:229850 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Anteverted nares, Depressed nasal bridge, Choanal atresia, Bilateral cryptorchidis... |
OMIM:619859 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Hypertelorism, Conductive hearing impairment, Sensorineural heari... |
ORPHA:261197 |
Campomelic Dysplasia |
|
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... |
OMIM:269860 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa... |
OMIM:118100 |
Seckel Syndrome 2 |
|
Microcephaly, Prominent nose, Micrognathia, Cerebellar hypoplasia, Clinodactyly of the 5th finger... |
OMIM:606744 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Frontal bossing, Sacral dimple, Turricephaly, Aganglionic megacolon, Micro... |
OMIM:613603 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth hormone stimulat... |
ORPHA:95494 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Hypertelorism, Brachycephaly, Coloboma, Low... |
OMIM:612379 |
Opitz-Kaveggia Syndrome |
|
Prominent nose, Short neck, Micrognathia, Partial agenesis of the corpus callosum, Anteriorly pla... |
OMIM:305450 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Hypertelorism, Depressed nasal ridge... |
OMIM:253290 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Microcephaly, Cryptorchidism, Cleft palate, Split foot, Microphthalmia |
OMIM:601349 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, High palate, Short palm, Antegonial no... |
OMIM:170390 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Focal polymicrogyria, Cryptorchidism, Partial agen... |
OMIM:619103 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Nasal congestion, Recurrent sinusitis |
OMIM:300991 |
Oculodentodigital Dysplasia |
|
Basal ganglia calcification, High palate, Joint contracture of the 5th finger, Conductive hearing... |
OMIM:164200 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Abno... |
ORPHA:249 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Underdeveloped n... |
ORPHA:306542 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, High pal... |
ORPHA:958 |
Galloway-Mowat Syndrome 1 |
|
Flat occiput, Prominent nose, Micrognathia, Hypoplasia of the iris, Hypoplasia of the brainstem, ... |
OMIM:251300 |
Norrie Disease |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Diabetes mellitus, Remnants of the hyaloid v... |
ORPHA:649 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Periventricular cysts, Abnormal form of the vertebral bodies, Conductive hearing im... |
OMIM:194190 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Prominent nose, Hydrocephalus, Scaphocephaly, Crania... |
OMIM:614886 |
Kbg Syndrome |
|
Short neck, Brachycephaly, Protruding ear, Thoracic kyphosis, Short palm, Clinodactyly of the 5th... |
OMIM:148050 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal... |
OMIM:611134 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow palate, Hypoplasia of... |
OMIM:600920 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Brachycephaly, Femoral bowing, Choanal stenosis, Narrow chest, Depressed nasal bridge, Arachnodac... |
OMIM:207410 |
Achondrogenesis |
|
Frontal bossing, Severe short stature, Anteverted nares, Micrognathia, Short nose, Flat face |
ORPHA:932 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... |
OMIM:277170 |
Baller-Gerold Syndrome |
|
Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, Choanal stenosis, High ... |
OMIM:218600 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Depressed nasal bridge, Anteverted nares, Microcephaly, Genu varum, Hypotelorism, High palate, Th... |
OMIM:619743 |
Cockayne Syndrome B |
|
Mandibular prognathia, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand,... |
OMIM:133540 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... |
OMIM:600002 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Protrusio acetabuli, Micrognathia, Kyphosis, Thin ribs, Tibial bowing, Slender l... |
OMIM:259420 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Abnormal form of the vertebral bodies, Otitis media, T... |
ORPHA:581 |
Lowry-Maclean Syndrome |
|
Short nasal bridge, Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, D... |
ORPHA:2409 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Posteriorly rotated ears, Proximal placement of thumb, Hypertelorism, Long nose, Clinodactyly of ... |
OMIM:620113 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Frontal bossing, Hyperactivity, Prominent nasal bridge, Micrognathia, Hypopl... |
OMIM:309520 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate, Hypotelorism |
OMIM:619053 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Agenesis o... |
OMIM:256520 |
Hydranencephaly |
|
Dysgenesis of the thalamus, Stiff neck, Optic nerve hypoplasia, Thalamic edema, Hypotelorism, Inf... |
ORPHA:2177 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Bip... |
ORPHA:818 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment |
OMIM:120433 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Microcephaly, Absent thumb, Hydrocephalus, Scoliosis, Microphthalmia, Anal atresia |
OMIM:617244 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing, Tics, Triangular face |
OMIM:619264 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Low-set, posterio... |
ORPHA:800 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ... |
ORPHA:280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... |
OMIM:615181 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Duplication of thumb phalan... |
OMIM:601707 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Brachycep... |
OMIM:612289 |
Intellectual Developmental Disorder With Neuropsychiatric Features |
|
Obsessive-compulsive trait, Depressed nasal bridge, Triangular face |
OMIM:617532 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Micrognathia, Hearing abno... |
ORPHA:1352 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Cryptorchidism, Intrauterine growth retardation, Short nose, Flat face |
OMIM:616910 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum, Flat face |
OMIM:617127 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Chronic otitis media, ... |
ORPHA:1507 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Supernumerary to... |
ORPHA:627 |
Distal Duplication 17Q |
|
Micrognathia, Pectus carinatum, Protruding ear, High palate, Low-set, posteriorly rotated ears, D... |
ORPHA:3379 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Hy... |
ORPHA:364577 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Short neck, Micrognathia, Deeply set eye, High palate, Scapular winging, Wide... |
OMIM:620369 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Microcephaly, Pectus excavatum, Tapered finger, Pectus carinatum, Macroce... |
ORPHA:65286 |
Isolated Sedoheptulokinase Deficiency |
|
Steatorrhea, Hypotelorism, Macrocephaly, Subcortical cerebral atrophy, Hip dysplasia, Shallow orb... |
ORPHA:440713 |
17P11.2 Microduplication Syndrome |
|
Short stature, Oral-pharyngeal dysphagia, Micrognathia, Attention deficit hyperactivity disorder,... |
ORPHA:1713 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Frontal bossing, Wide nose, Anteverted nares, Narrow nasal ridge, Underdeveloped nasal alae, Cryp... |
OMIM:619293 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Hypertelori... |
ORPHA:1752 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... |
OMIM:616229 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Wide nose, Arachnodactyly, Hypertelorism, Pectus excavatum, Thin ribs, Abnormal columella morphol... |
ORPHA:2463 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Postnatal growth retardation, Short stature, Triangular face |
OMIM:619489 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Chronic rhinitis, Recurrent sinusitis, Immotile sperm |
OMIM:617091 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Retrognathia, Hypoplasia... |
OMIM:234050 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Fused thoracic vertebrae, Syndactyly, Anteverted nares, Depressed na... |
ORPHA:97360 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Hyperte... |
ORPHA:90646 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Short neck, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Mend Syndrome |
|
Redundant neck skin, Micrognathia, High palate, Dandy-Walker malformation, Microretrognathia, Bro... |
OMIM:300960 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Coloboma, Vertebral segmentation defect, Triphalangeal thumb, Chorioretina... |
ORPHA:959 |
Orofaciodigital Syndrome Iii |
|
Hypertelorism, Pectus excavatum, Kyphosis, Bulbous nose, Supernumerary tooth, Postaxial hand poly... |
OMIM:258850 |
Silver-Russell Syndrome 2 |
|
Frontal bossing, Short stature, Micrognathia, Intrauterine growth retardation, Triangular face |
OMIM:618905 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Spinal rigidity, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus... |
OMIM:613150 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Hypoplasia of the thymus, Conductive hearing impairment, Chronic otitis... |
ORPHA:567 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasi... |
ORPHA:2167 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Rocker bottom foot, ... |
OMIM:606851 |
Craniofrontonasal Syndrome |
|
Short neck, Brachycephaly, Sprengel anomaly, Clinodactyly of the 5th finger, Agenesis of corpus c... |
OMIM:304110 |
Alazami Syndrome |
|
Wide nose, Triangular face, Abnormal eating behavior, Postnatal growth retardation, Malar flatten... |
ORPHA:319671 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal rib morphology, Slender long bone, A... |
ORPHA:1506 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
Ruijs-Aalfs Syndrome |
|
Frontal bossing, Short stature, Prominent nasal bridge, Micrognathia, Bulbous nose, Hypogonadism,... |
OMIM:616200 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Frontal bossing, Aggressive behavior, Brachycephaly, Flat face |
OMIM:615828 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis, Rib exostoses, Clinodactyly of th... |
ORPHA:2108 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ... |
ORPHA:1512 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormal t... |
ORPHA:1318 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Hyperlysinemia |
|
Craniosynostosis, Microcephaly, Depressed nasal ridge, Hypotelorism, High palate, Hypoplasia of t... |
ORPHA:2203 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo... |
ORPHA:666 |
Stuve-Wiedemann Syndrome 1 |
|
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Deeply set eye, Smooth tongue, Short tib... |
OMIM:601559 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2470 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia... |
ORPHA:2655 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Micrognathia, Kyphosis, Myel... |
ORPHA:1393 |
Short Stature, Brussels Type |
|
Microretrognathia, Growth delay, Short stature, Triangular face |
ORPHA:2867 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Severe short stature, Dolichocephaly, Intrauterine growth retardation, Retrognathia, Triangular face |
OMIM:617352 |
Scarf Syndrome |
|
Barrel-shaped chest, Thickened nuchal skin fold, Posteriorly rotated ears, Prominent nasal bridge... |
OMIM:312830 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa... |
OMIM:186500 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Coloboma, High palate, Clinod... |
OMIM:309500 |
Warburg Micro Syndrome 4 |
|
Decreased testicular size, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Perisylvian ... |
OMIM:615663 |
Pseudoaminopterin Syndrome |
|
Micrognathia, High palate, Synostosis of carpal bones, Low-set, posteriorly rotated ears, Sagitta... |
ORPHA:221120 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Mandibular prognathia, Thickened ribs, Short neck, Brachycephaly, Pe... |
ORPHA:309282 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Brachycephaly, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever... |
OMIM:227330 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Aggressive be... |
OMIM:610253 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:2612 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Silver-Russell Syndrome 3 |
|
Frontal bossing, Short stature, Unilateral cryptorchidism, Postnatal growth retardation, Retrogna... |
OMIM:616489 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Hypertelorism, Abnormal thorax morphology, Metaphyseal widening, ... |
ORPHA:73230 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Brachycephaly, Finger clinodactyly, Shallow orbits, Depressed nasal bridge, Hypertelorism, Tapere... |
OMIM:601353 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... |
OMIM:620076 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia, Global brain atrophy, Microcephaly |
OMIM:308350 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Protruding ear, Webbed neck, Deeply set ey... |
OMIM:613458 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Convex nasal ridge, Hypoplasia of the maxil... |
ORPHA:1540 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Anteverted nares, Depre... |
ORPHA:50945 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Brachycephaly, Tetraphocomelia, Coloboma, High palate, Shallow orbits, ... |
OMIM:268300 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Frontal bossing, Short stature, Anteverted nares, Prominent nasal bridge, Micrognathia, Enlarged ... |
ORPHA:371364 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Frontal bossing, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, Brachyce... |
OMIM:616801 |
Pycnodysostosis |
|
Frontal bossing, Brachydactyly, Aplastic clavicle, Prominent nose, Micrognathia, Absent frontal s... |
OMIM:265800 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, High palate, Shallow orbits, Clinodactyly of the 5th finger, Bifid... |
OMIM:616580 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Hydrocephalus, W... |
OMIM:620157 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Mixed hearing impairment, Short metacarpal, Hypertelorism, Pectus excavatu... |
OMIM:201180 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Flat occiput, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Gray matter heterotopia, D... |
OMIM:614887 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Frontal bossing, Short stature, Delayed puberty, Trigonocephaly, Flat face |
ORPHA:2994 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand ... |
ORPHA:1120 |
Marshall Syndrome |
|
Frontal bossing, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasi... |
ORPHA:560 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irregular vertebr... |
OMIM:618395 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly |
ORPHA:291 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Thin clavicles, ... |
ORPHA:93324 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Depressed nasal bridge, Thoracolumbar scolio... |
OMIM:618019 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Frontal bossing, Anteverted nares, Depressed nasal bridge, Camptoda... |
ORPHA:93473 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Anteriorly placed anus, Ch... |
ORPHA:798 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, Conduct... |
OMIM:601076 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae... |
OMIM:224690 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Mi... |
OMIM:223370 |
Chromosome 10Q26 Deletion Syndrome |
|
Frontal bossing, Hyperactivity, Short stature, Convex nasal ridge, Craniosynostosis, Micrognathia... |
OMIM:609625 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Cerebellar vermis hypo... |
OMIM:619841 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of... |
ORPHA:3134 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Wide nasal bridge, Low-set ... |
OMIM:601186 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Frontal bossing, Dysmenorrhea, Micrognathia, Postnatal growth retardation, Cryptorchidism, Attent... |
ORPHA:397590 |
Hajdu-Cheney Syndrome |
|
Short neck, Micrognathia, Absent frontal sinuses, High palate, Conductive hearing impairment, Iri... |
OMIM:102500 |
Kagami-Ogata Syndrome |
|
Frontal bossing, Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Microg... |
OMIM:608149 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... |
ORPHA:3236 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Wide nasal bridge, Malar flatte... |
ORPHA:261295 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Hypoplasia of t... |
OMIM:101600 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Short stature, Convex nasal ridge |
OMIM:156510 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hypertelorism, ... |
ORPHA:466950 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Brachycephaly, Plagiocepha... |
OMIM:616789 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, Temporal cortical atrophy, 2-3 toe syn... |
OMIM:615665 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachycephaly, Anteri... |
OMIM:211380 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Wide nose, Intestinal polyposis, Microcephaly... |
ORPHA:1052 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Microcephaly, Abnormal rib morphology, Abnormal epiphysis morphology, Enamel hypoplasia, Brachyda... |
ORPHA:2643 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Low posterior hairline, Vertebral segmentation defect, Heari... |
ORPHA:2578 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Wide nose, Rhizomelia, Depressed nasal ridge, Short nose, Flat face |
ORPHA:2831 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Vertebr... |
ORPHA:263508 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia |
ORPHA:3000 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Torticollis, Depressed nasal bridge, Kyphosis, Cranial asymmetry... |
OMIM:609128 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma, Cleft palate |
OMIM:600251 |
Distal 17P13.1 Microdeletion Syndrome |
|
Flat occiput, Unilateral polymicrogyria, Prominent nasal bridge, Hypoplasia of the zygomatic bone... |
ORPHA:319171 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short stature, Micrognathia, Wide nasal bridge, Coronal craniosynostosis, Flat face, Short nose |
OMIM:614078 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Recurrent upper re... |
ORPHA:583 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... |
ORPHA:2911 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Hydrocephalus, Porencephalic cyst, Esophageal va... |
ORPHA:974 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Short neck, Micrognathia, High, narrow palate, Micromelia, Brachycep... |
OMIM:122470 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb perome... |
ORPHA:1299 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Hypertelor... |
OMIM:603457 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea |
OMIM:264270 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Wide nasal bridge, Brachycephaly, Short nose, Agenesis of corpus callosum |
OMIM:218000 |
20Q11.2 Microduplication Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Brachycephaly, Wide nasal bridge, Growt... |
ORPHA:363659 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal pinna morphology, Short neck, Broad nasal tip, Thickened cortex of long bones, Abnormal ... |
ORPHA:488434 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Kyp... |
OMIM:614557 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Slender long bone, Decrea... |
OMIM:618265 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... |
OMIM:251270 |
Robinow-Sorauf Syndrome |
|
Craniosynostosis, Long nose, Plagiocephaly, Pansynostosis, Malar flattening, Flat face, Narrow nose |
OMIM:180750 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Sensorineural hearing impairment, Bilateral cleft lip and palate, Chorioretinal coloboma, Microph... |
ORPHA:1473 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Chronic sinusitis, Chronic rhinitis, Recurrent sinusitis |
OMIM:612444 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Hyperparathyroidism, Short femur, Anteverted nares,... |
OMIM:618188 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera... |
ORPHA:77299 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Precocious puberty, 2-3 toe syndactyly, Coloboma, Macrocephaly, Microph... |
OMIM:615877 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Microphthalmia, Ankylog... |
OMIM:602361 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Hypotelorism, Early onset of sexual maturation, Clinodactyly of the 5th finger, ... |
OMIM:194050 |
Sotos Syndrome |
|
Mandibular prognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Aggressive beha... |
OMIM:117550 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Anteverted nares, Hypertel... |
OMIM:311900 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... |
OMIM:200980 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Frontal bossing, Abnormal dental enamel morphology, Aplastic clavic... |
ORPHA:85199 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Microcephaly |
OMIM:614082 |
Osteoporosis-Pseudoglioma Syndrome |
|
Frontal bossing, Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening, Abnorma... |
ORPHA:2788 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short stature |
ORPHA:93945 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Brachycephaly, ... |
OMIM:618223 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Anteverted nares, Micrognathia, Periventricular heterotopia, Cryptorchidism, Col... |
ORPHA:261250 |
Fetal Akinesia Deformation Sequence 1 |
|
Short neck, Micrognathia, High, narrow palate, High palate, Cavum septum pellucidum, Absent septu... |
OMIM:208150 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow chest, Narro... |
OMIM:250220 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, High palate, Camptodactyly of toe, Conductive hearing impairment, Dislo... |
OMIM:265000 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Microphthalmia |
OMIM:601794 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Hypotelorism, High pala... |
OMIM:300661 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Webbed neck, ... |
ORPHA:373 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... |
OMIM:615948 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Microphthalmia, Broad thumb,... |
OMIM:614526 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Stiff neck, Torticollis, Short neck, Micrognathia, Narro... |
OMIM:617022 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Pectus carinatum, Prominent i... |
OMIM:618371 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorchidism, Hypoplastic iliac ... |
OMIM:263650 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Rhinitis, Recurrent sinusitis, Immotile sperm |
OMIM:614874 |
Three M Syndrome 3 |
|
Frontal bossing, Triangular face, Short stature, Anteverted nares, Growth delay, Dolichocephaly, ... |
OMIM:614205 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Micrognathia, Aplasia of the distal phalanx of the 5th finger, High palate, Clinodactyly of the 5... |
OMIM:608670 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Short neck, Prominent nose, Long nose, Micro... |
ORPHA:2636 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Hypoplasia of the maxilla, Cryptorchidism, Depressed nasal ridge, Wide nasal br... |
ORPHA:178303 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short stature, Anteverted nares, Hypoplasia of the maxilla, Cryptorchi... |
ORPHA:915 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Wide nose, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidi... |
OMIM:605130 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Microcephaly, External ear malformation, Micrognathia, Cryptor... |
ORPHA:2505 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azo... |
ORPHA:8 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Hypertelorism, Iris coloboma, Brachycephaly, Bifid uvula, Midline defe... |
OMIM:229400 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
6Q Terminal Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ribs, Hallux valgus, Short neck, Abn... |
ORPHA:75857 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Microcephaly, Pectus excavatum, Bifid nasal tip, Unilateral microphthalmos, Bilateral cleft lip a... |
OMIM:618874 |
Stormorken Syndrome |
|
Hypotelorism, Deeply set eye, Epistaxis, Prominent nose |
OMIM:185070 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Hypertelorism, Congenital sensori... |
OMIM:193500 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Sacral dimple, Flat occiput, Posteriorly rotated ears, Abnormal... |
ORPHA:2211 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Micrognathia, Hypertelorism, Absent radius... |
OMIM:115470 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Deeply set eye, High palate, Bifid uvul... |
OMIM:617140 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Microsphero... |
OMIM:277600 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Agenes... |
OMIM:618820 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Malar flattening, Lateral ventricle dilatation, Triangular face |
OMIM:301025 |
Tarp Syndrome |
|
Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger syndactyly, ... |
ORPHA:2886 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormality of the thyroid gland, Abnormal rib morphology, Hemivertebrae, Abnormal fo... |
ORPHA:2234 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, High palate, Agenesis of corpus callos... |
ORPHA:96176 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Prominent nose... |
OMIM:618829 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosi... |
OMIM:117650 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Anteverted nares, Carious teeth, Polymicrogyria, Flat face, Malar flattening, Sh... |
OMIM:219200 |
Chromosome 5Q12 Deletion Syndrome |
|
Frontal bossing, Prominent nose, Postnatal growth retardation, Micrognathia, Flat face, Low hangi... |
OMIM:615668 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Microretrognathia, Frontal bossing, Short stature, Abnormal cortical gyration, Trigonocephaly, Ma... |
OMIM:177980 |
Achondrogenesis, Type Ib |
|
Malar flattening, Stillbirth, Neonatal short-limb short stature, Flat face |
OMIM:600972 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Short stature, Micrognathia, Wide nasal bridge, Prominent nasolabial fold,... |
OMIM:601680 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Clinodactyly, Brachycephaly, High... |
OMIM:614188 |
Congenital Rubella Syndrome |
|
Microcephaly, Sensorineural hearing impairment, Aplasia/Hypoplasia of the iris, Type I diabetes m... |
ORPHA:290 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Lens coloboma, Deeply set eye, Clinodactyly of the 5th f... |
OMIM:619539 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Clinodactyly, High palate, Short palm, Duplication of the distal phalan... |
OMIM:180700 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert... |
ORPHA:887 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Shallow orb... |
OMIM:608328 |
Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Chronic rhinitis |
OMIM:618801 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,... |
OMIM:211350 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cerebral calcification, Intestinal malrotation, Microcephaly, Pectus excavatum, Esophageal varix,... |
OMIM:613658 |
Orofaciodigital Syndrome Type 3 |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Hypertelorism, Pectus excavatum, Bulbous nose,... |
ORPHA:2752 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate |
OMIM:614402 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Brachycephaly, Pectus carinatum, Thoracic dy... |
OMIM:263520 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Flat occiput, Micrognathia, Protruding ear, Deeply se... |
ORPHA:534 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Depre... |
ORPHA:3003 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Microcephaly, Absent thumb,... |
OMIM:603467 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Brachycephaly, Deeply set eye, High palate, Thickened helices, Conductive ... |
OMIM:607872 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Postnatal growth reta... |
ORPHA:251061 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... |
ORPHA:2554 |
Codas Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Short stature, Abnormal dental enamel morphology, De... |
ORPHA:1458 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... |
OMIM:614753 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Short stature, Prominent nasal bridge |
ORPHA:2662 |
Cranioectodermal Dysplasia 2 |
|
Short neck, Micrognathia, High palate, Narrow chest, Simple ear, Syndactyly, Cloverleaf skull, De... |
OMIM:613610 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Screwdriver-shaped incisors, Mulberry molar, Broad finger... |
OMIM:302350 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Turricephaly, Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal c... |
ORPHA:93317 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Impulsivity, Aggressive behavior, Hypoplasia of the maxilla, Broad nasa... |
ORPHA:293939 |
Al Kaissi Syndrome |
|
Short stature, Depressed nasal bridge, Broad nasal tip, Postnatal growth retardation, Brachycepha... |
OMIM:617694 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Malar f... |
ORPHA:2412 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microtia, Recurrent otitis media... |
ORPHA:2728 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft... |
OMIM:611561 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Xq12-Q13.3 Duplication Syndrome |
|
Short stature, Depressed nasal bridge, Cryptorchidism, Bulimia, Recurrent upper respiratory tract... |
ORPHA:314389 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni... |
ORPHA:464 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Chronic sinusitis, Immotile sperm |
OMIM:613807 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Low-set... |
OMIM:612109 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Short stature, Prominent nose, Brachycephaly, Wide nasal bridge, Biparietal narr... |
ORPHA:1292 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Cryptorchidism, Triangular face, Attention deficit hyperactivity disorder, Micrognathia |
OMIM:619243 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Silver-Russell Syndrome 1 |
|
Frontal bossing, Micrognathia, Testicular seminoma, Intrauterine growth retardation, Triangular face |
OMIM:180860 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High, narrow palate, Hypoplasia of ... |
ORPHA:3015 |
Phocomelia, Schinzel Type |
|
Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia morphology, Protruding ... |
ORPHA:2879 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Microcephaly, Microg... |
OMIM:620005 |
Hydrolethalus Syndrome 1 |
|
Broad neck, Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration, Micr... |
OMIM:236680 |
Halperin-Birk Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly |
OMIM:618651 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Depressed nasal bridge, Proportionate short stature, Micrognathia, Bil... |
OMIM:613457 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Aggressive behavior, Hypoplasia of the maxilla, Bulbous nose, Agenesis of corpu... |
ORPHA:481152 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry... |
ORPHA:261529 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Turricephaly, Short stature, Wide nasal bridge, Hypoplasia of the zygomati... |
ORPHA:710 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Flat occiput, Anteverted nares, Cryptorchidism, Wide nasal bridge, Growth dela... |
OMIM:614052 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism |
OMIM:616937 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Triangular face, Micrognathia |
OMIM:166300 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Preco... |
ORPHA:2588 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Malar flattenin... |
OMIM:242860 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Brachycephaly, C... |
OMIM:614976 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Convex nasal ridge, Carious teeth, Hypoplasia of t... |
ORPHA:1110 |
Distal Duplication 5Q |
|
Short stature, Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Cryptorchid... |
ORPHA:96097 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Clinodactyly, Dental malocclusion, Wide n... |
OMIM:618727 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Anteverted nares, Hypertelorism, Increased intervertebral spac... |
OMIM:619727 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity |
ORPHA:397973 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Large basal ganglia, Pectus carinatum, Deeply set eye, Chorioretinal coloboma, ... |
OMIM:235730 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of co... |
OMIM:613091 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Zellweger Syndrome |
|
Death in infancy, Flat occiput, Short stature, Depressed nasal bridge, Micrognathia, Cryptorchidi... |
ORPHA:912 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose, Fl... |
OMIM:122880 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Wide nasal bridge, Thin ribs, Femoral bowing, Biconcave v... |
OMIM:617952 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anophthalmia, Anteverted nares, Microcephaly, Wide nasal bridge, Protruding ear, Micro... |
ORPHA:2526 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Rhinitis, Nasal polyposis, Recurrent sinusitis |
OMIM:614935 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine, Oral leukopl... |
OMIM:620133 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Death in early adulthood, ... |
ORPHA:192 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... |
OMIM:610915 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Restlessness, Hyperactivity, Short stature, Prominent nasal bridge, Microg... |
OMIM:300534 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Anteverted nares, Microcephaly, Wide nasal bridge, Microphthalmia, Thick nasal alae |
ORPHA:1942 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn... |
ORPHA:89936 |
Faundes-Banka Syndrome |
|
Frontal bossing, Premature thelarche, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Bul... |
OMIM:619376 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Aarskog-Scott Syndrome |
|
Short stature, Anteverted nares, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cryptorchid... |
OMIM:305400 |
Axenfeld-Rieger Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Growth delay, Midface retru... |
ORPHA:782 |
Marbach-Rustad Progeroid Syndrome |
|
Triangular face, Short stature, Convex nasal ridge, Delayed eruption of primary teeth, Micrognath... |
OMIM:619322 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Cryptorchidism, Abnormal ri... |
ORPHA:2970 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge |
OMIM:300676 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Cloverleaf skull, Rhizomelia, ... |
OMIM:166250 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Torticollis, Posteriorly rotated ears, Spina bifida, Broad nasal tip, Hypertelor... |
OMIM:619480 |
Deafness, X-Linked 7 |
|
Posteriorly rotated ears, Unilateral microphthalmos, Wide nasal bridge, Atresia of the external a... |
OMIM:301018 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Kyphoscoliosis, Microcephaly, Supernumerary n... |
OMIM:308300 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta |
OMIM:601216 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Triangular face, Aggressive behavior, Plagiocephaly, Lateral ventricle dilatatio... |
ORPHA:457279 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Pectus carinatum, Vertebral segmentation def... |
OMIM:312870 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior, Long nose, Macroorchidism, Triangular face |
ORPHA:85327 |
Kagami-Ogata Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Short neck, Micrognath... |
ORPHA:254519 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness |
OMIM:300266 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Microcephaly, Malabsorption, Retrognathia, Protruding ear, Hypogonadism, ... |
OMIM:601675 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Short nasal bridge, Microcephaly, Micrognathia, Polymicrogyria, Hydrocephalus, Aplasia/Hypoplasia... |
OMIM:253280 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Prominent nasal bridge, Oral-pharyngeal dysphagia, Postnatal growth retardation, Long nose, Intra... |
OMIM:619184 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Cerebrofacioarticular Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus callosum, Bilateral cho... |
ORPHA:314679 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Nizon-Isidor Syndrome |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Aggressive behavior, Bulbous no... |
OMIM:618872 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Hydrocepha... |
ORPHA:3042 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost... |
OMIM:241310 |
Yunis-Varon Syndrome |
|
Flat occiput, Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebrae, Congenital ... |
OMIM:216340 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Convex nasal ridge, Decreased serum leptin, Micrognathia, Dental malocclusion,... |
OMIM:614008 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Dolichocephaly, Hypertelorism, Hemiv... |
OMIM:271520 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Micrognathia, Long nose, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge, Hypoplasia... |
ORPHA:1968 |
12Q14 Microdeletion Syndrome |
|
Frontal bossing, Wide nose, Short stature, Prominent nasal bridge, Micrognathia, Abnormal nostril... |
ORPHA:94063 |
Short Syndrome |
|
Severe short stature, Triangular face, Abnormal dental enamel morphology, Abnormal zygomatic bone... |
ORPHA:3163 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Short neck, Short thorax, Rectal at... |
OMIM:617666 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Abnormality of the ... |
ORPHA:3455 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Postnatal growth retardat... |
OMIM:265050 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Male infertility, Nasal polyposis, Absent frontal sinuses, Anosmia, ... |
OMIM:244400 |
Townes-Brocks Syndrome |
|
Anteriorly placed anus, Triphalangeal thumb, Chorioretinal coloboma, Clinodactyly of the 5th fing... |
ORPHA:857 |
1P36 Deletion Syndrome |
|
Depressed nasal ridge, Brachycephaly, Deeply set eye, Abnormality of the neck, Conductive hearing... |
ORPHA:1606 |
Short Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Triangular face, Micrognathia, Underdeveloped nasal a... |
OMIM:269880 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane... |
ORPHA:261537 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Abnormal sperm motility, Female infertility, Hydrocephalus, Na... |
ORPHA:244 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Hyperactivity, Mild postnatal growth retardation, Depressed nasal brid... |
OMIM:235510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Hypoplasia of t... |
OMIM:616538 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia, Cryptorchidism |
OMIM:613730 |
Simosa Craniofacial Syndrome |
|
Underdeveloped nasal alae, Long nose, Wide nasal bridge, Depressed nasal tip, Malar flattening, F... |
OMIM:182150 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Wide nasal bridge |
OMIM:601499 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the iris, Ce... |
OMIM:613001 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Hypertelorism, Low-set ears, Microphthalmia, Macrotia, Iris coloboma |
OMIM:615145 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short stature, Hypoplasia of the maxilla, Simplified gyral pattern, Short nose |
OMIM:614261 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microcephaly, High, narrow palate, Small hand, Cleft pal... |
ORPHA:2714 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature |
OMIM:608154 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel... |
ORPHA:3404 |
Van Maldergem Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Subcortical band heterotopia, Dental malocclusion, Simpl... |
OMIM:601390 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Cleft palate, Adrenal gland agenesis,... |
OMIM:273395 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin... |
OMIM:240300 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Overhanging nasal tip, Midface retrusion |
OMIM:619142 |
Cohen Syndrome |
|
Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Delayed puberty, ... |
OMIM:216550 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Short neck, Microcephaly, Cerebral atrophy,... |
OMIM:615802 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613805 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose |
ORPHA:90653 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism |
ORPHA:1307 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft... |
OMIM:154500 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Micrognathia, Biliary hyperplasia, Choanal stenosis, Pancreatic hypopla... |
ORPHA:83617 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla |
OMIM:246560 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Biparietal narrowing |
ORPHA:228396 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil... |
ORPHA:37553 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Short stature, Anteverted nares, Cryptorchidism, Depressed nasal ridge, Self-in... |
ORPHA:847 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Frontal bossing, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Prominent... |
OMIM:610759 |
Van Maldergem Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Subcortical band... |
OMIM:615546 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia... |
ORPHA:1860 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Prominent nasal bridge, Craniosynostosis, Narrow nasal ridge, Hydrocephalus, Scaphocephaly, Intra... |
OMIM:616914 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Short stature, Anteverted nares, Narrow nasal ridge, Prominent nasa... |
OMIM:620370 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Cryptorchidism, Fibrous syngnat... |
ORPHA:1300 |
Cockayne Syndrome Type 3 |
|
Cerebral white matter atrophy, Carious teeth, Kyphosis, Basal ganglia calcification, Deeply set e... |
ORPHA:90324 |
Trichorhinophalangeal Syndrome Type 1 |
|
Frontal bossing, Short stature, Micrognathia, Supernumerary tooth, Bulbous nose, Triangular face |
ORPHA:77258 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Micrognathia, Hemivertebrae, Dysplastic sacrum, Crypt... |
OMIM:134780 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane... |
ORPHA:261552 |
Cockayne Syndrome |
|
Cerebral calcification, Basal ganglia calcification, Deeply set eye, Cerebral dysmyelination, Cry... |
ORPHA:191 |
Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Short stature, Micrognathia, Flat face |
ORPHA:2268 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane... |
ORPHA:2152 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colp... |
OMIM:309801 |
Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... |
ORPHA:436 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Long nose, Short stature, Triangular face, Aggressive behavior |
ORPHA:85329 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Supernumerary nipple, Microcephaly, Cryptorchidism, Postaxial hand polydacty... |
ORPHA:2519 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b... |
OMIM:616367 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Phthisis bulbi... |
OMIM:259770 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Deeply set ey... |
ORPHA:500150 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D... |
ORPHA:3044 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern... |
ORPHA:63260 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Dental maloccl... |
ORPHA:199306 |
Down Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Decreased fertility, Brachycephaly, Short nose, Fl... |
ORPHA:870 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Hypoplasia of the maxilla, Brachycephaly, Aplasia/Hypoplasia of the nasal bone, Co... |
ORPHA:2095 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Pectus excavatum... |
OMIM:601552 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t... |
ORPHA:1134 |
Gaucher Disease, Perinatal Lethal |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Dysphagia, Neonatal death, Intrauterine g... |
OMIM:608013 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Aplastic z... |
OMIM:616462 |
Larsen Syndrome |
|
Short stature, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Malar flattening, Flat face |
ORPHA:503 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Lateral ventricle dilatation, Micr... |
OMIM:300952 |
Aspergillosis |
|
Sinusitis, Abnormal rib morphology, Nasal congestion, Abnormal long bone morphology, Abnormality ... |
ORPHA:1163 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent r... |
OMIM:227645 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613804 |
Smith-Lemli-Opitz Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Holoprosencephaly |
OMIM:270400 |
Refsum Disease |
|
Short metacarpal, Sensorineural hearing impairment, Anosmia, Hammertoe, Abnormal epiphysis morpho... |
ORPHA:773 |
Distal Deletion 3P |
|
Short stature, Anteverted nares, Micrognathia, Cryptorchidism, Brachycephaly, Intrauterine growth... |
ORPHA:1620 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio... |
OMIM:610682 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Short stature, Flat face, Broad nasal tip |
ORPHA:401923 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Hypoplasia of the pharynx, Sh... |
OMIM:182210 |
Immunodeficiency 47 |
|
Sensorineural hearing impairment, Hypotelorism |
OMIM:300972 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Par... |
OMIM:105830 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma, Micrognathia, Hearing impairment |
ORPHA:2260 |
Noonan Syndrome With Multiple Lentigines |
|
Short stature, Cryptorchidism, Brachycephaly, Decreased fertility, Wide nasal bridge, Growth dela... |
ORPHA:500 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Craniosynostosis, Hydrocephalus, Abnormal ri... |
ORPHA:667 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... |
ORPHA:93941 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Anteverted nares, Flat face |
OMIM:618154 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Wide nose, Short stature, Prominent nasal bridge, Hyp... |
ORPHA:50814 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism, Retinal coloboma, Cryptorchidism |
ORPHA:363741 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Lymphedema-Distichiasis Syndrome |
|
Micrognathia, Kyphosis, Cleft palate, Webbed neck, Microphthalmia, Cystic hygroma |
OMIM:153400 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla... |
OMIM:613803 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hemivertebrae, Brachycephaly, Femoral bowing, Anteriorly pl... |
OMIM:201750 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Intrauterine growth retardation, Miscarriage, Triangular face |
ORPHA:96181 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Rhizomelia, Prominent nose, Broad nasal tip, Oligozoospermia, Growth delay... |
OMIM:614813 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Conductive hearing impairment, Anteverted nares, Hypertelorism, Rib fusion, Wide... |
OMIM:157800 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim... |
ORPHA:93325 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Depressed nasal bridge, Hydrocephalus, Head-banging, Self-injurious behavior, Late... |
OMIM:619575 |
Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Short stature, Brachycephaly, Triangular face |
OMIM:610968 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Frontal bossing, Micrognathia, Postnatal growth retardation, Cryptorchidism, Severe intrauterine ... |
ORPHA:96182 |
Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Unilateral microphthalmos, Macrocephaly |
OMIM:615085 |
Rodrigues Blindness |
|
Narrow nasal bridge, Microphthalmia, Protruding ear |
OMIM:268320 |
Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Hypoplasia of the ma... |
OMIM:608156 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Rhizomelia, Short stature, Aggressive behavior, Postnatal growth retardation, Wide... |
ORPHA:319182 |
Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal rib morphology, Webbe... |
ORPHA:1666 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Frontal bossing, Short stature, Colpocephaly, Agenesis of corpus callosum, Triangular face, Low h... |
OMIM:617260 |
Alagille Syndrome 1 |
|
Frontal bossing, Hypoplasia of the ulna, Depressed nasal bridge, Hypertelorism, Long nose, Bulbou... |
OMIM:118450 |
Restrictive Dermopathy |
|
Micrognathia, Aplasia/Hypoplasia involving the nose, Hypertelorism, Temporomandibular joint ankyl... |
ORPHA:1662 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Flat face, Micrognathia |
ORPHA:2001 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Depressed nasal bridge, Increased circulating gonadotropin level, Cupped ear, Wide nasal bridge, ... |
OMIM:110100 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Chronic sinusitis |
OMIM:619607 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Cleft Velum |
|
Hypoplasia of the maxilla, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Supernumerary nipple, Microcephaly, Pachygyria, Cortical dysplasia... |
OMIM:100300 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Prominent nose, Spina bifida o... |
OMIM:180849 |
3Q27.3 Microdeletion Syndrome |
|
Mandibular prognathia, Slender nose, Convex nasal ridge, Triangular face |
ORPHA:397695 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth delay, Short nose |
ORPHA:363417 |
Papillorenal Syndrome |
|
Sensorineural hearing impairment, Optic disc coloboma, Retinal coloboma, Scoliosis, Microphthalmia |
OMIM:120330 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Frontal bossing, Short stature, Anteverted nares, Prominent nasal bridge, Micrognathia, Brachycep... |
ORPHA:1974 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Depressed nasal bridge, Micrognathia, Brachycephaly, Wide nasal bridge, Flat face |
ORPHA:2062 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Frontal bossing, Short stature, Anteverted nares, Depressed nasal bridge, Postnatal growth retard... |
OMIM:613563 |
Aymé-Gripp Syndrome |
|
Short stature, Depressed nasal bridge, Craniosynostosis, Postnatal growth retardation, Cryptorchi... |
ORPHA:1272 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Aggressive behavior, Bilateral cryp... |
ORPHA:466791 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Short stature, Depressed nasal bridge, Brachycephaly, Wide nasal bridge, F... |
OMIM:601088 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Clubbing of fingers, Microphthalmia, Volvulus, Decreased testicular size |
ORPHA:335 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Syndactyly, Choanal atresia, Spina bifi... |
OMIM:192350 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Short stature, Cryptorchidism, Spina bifida occulta, Depressed nasal ridge... |
OMIM:151100 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Frontal bossing, Narrow nasal bridge, Short stature, Micrognathia, Hyp... |
OMIM:259600 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Microphthalmia, Hearing impairment, Protruding ear |
ORPHA:1806 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... |
ORPHA:231736 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Microcephaly, Hearing impairment |
ORPHA:891 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Deeply set eye |
OMIM:305390 |
Distal Deletion 12Q |
|
Frontal bossing, Hyperactivity, Short stature, Unilateral cryptorchidism, Anteverted nares, Micro... |
ORPHA:96149 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Abnormal nasal morphology, Micrognathia |
ORPHA:245 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hypothyroidism, Lens coloboma, Abnormal sternum morphology,... |
ORPHA:42775 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Micrognathia, Oligozoospermia, Growth delay, S... |
ORPHA:125 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent r... |
OMIM:600901 |
Tolchin-Le Caignec Syndrome |
|
Micrognathia, Prominent nose, Scaphocephaly, Oxycephaly, Wide nasal bridge, Prominent occiput, At... |
OMIM:618971 |
Omodysplasia 1 |
|
Frontal bossing, Rhizomelia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal bri... |
OMIM:258315 |
Lymphangiectasia, Pulmonary, Congenital |
|
Depressed nasal bridge, Mild postnatal growth retardation, Wide nasal bridge, Malar flattening, F... |
OMIM:265300 |
Rapp-Hodgkin Syndrome |
|
Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Cari... |
OMIM:129400 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent r... |
OMIM:227650 |
17Q24.2 Microdeletion Syndrome |
|
Aggressive behavior, Micrognathia, Wide nasal bridge, Secondary amenorrhea, Midface retrusion, Tr... |
ORPHA:529962 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Larsen Syndrome |
|
Frontal bossing, Short stature, Depressed nasal bridge, Cryptorchidism, Flat face, Malar flatteni... |
OMIM:150250 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Trismus, Xerostomia, Abnormal rib morph... |
ORPHA:2907 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Short stature, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Postnat... |
OMIM:619127 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Frontal bossing, Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Disprop... |
OMIM:619479 |
Distal Deletion 15Q |
|
Flat occiput, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidism, Broad na... |
ORPHA:1596 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... |
OMIM:209885 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Mullegama-Klein-Martinez Syndrome |
|
Frontal bossing, Short stature, Depressed nasal bridge, Micrognathia, Prominent nose, Bulbous nos... |
OMIM:301022 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Restlessness, Short stature, Impulsivity, Persistence of primary teeth, Hypo... |
ORPHA:2044 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:212550 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Short stature, Anteverted nares, Broad nasal tip, Hypoplasia of the maxill... |
OMIM:617402 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Mild postnatal growth retardation, Depressed nasal bridge, Craniosynos... |
ORPHA:2136 |
Craniofacioskeletal Syndrome |
|
Short stature, Choanal atresia, Micrognathia, Cryptorchidism, Hypoplastic frontal sinuses, Intrau... |
OMIM:300712 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microcephaly, Basal ganglia calcification, Sensorineural hearing impairment, Hypogonadism, Microp... |
OMIM:610651 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... |
ORPHA:2334 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty |
ORPHA:99429 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate, Microcephaly |
OMIM:257910 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Hydrocele testis, Micrognathia |
OMIM:615108 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Semilobar holoprosencephaly |
OMIM:129900 |
Goldberg-Shprintzen Syndrome |
|
Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasal bridge, Pachygyria, P... |
OMIM:609460 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cleft palate, Polycystic ovaries, Microphthalmia, Agenesis of corpus callosum, Con... |
ORPHA:137675 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Wide nasal bridge, Bilateral choanal atresia |
OMIM:106260 |
Primrose Syndrome |
|
Restlessness, Short stature, Hypergonadotropic hypogonadism, Anteverted nares, Aggressive behavio... |
OMIM:259050 |
Cleidocranial Dysplasia 2 |
|
Plagiocephaly, Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Kyphosis, Cryptorchidism, Hip dislocation, Periventricular cysts, Genu v... |
OMIM:309000 |
Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Hydrocele testis, Micrognathia |
OMIM:615109 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short stature, Anteverted nares, Broad nasal tip, Carious teeth, Cryptorchidism, Long nose, Bulbo... |
OMIM:619522 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Hypoplasia of the pharynx, Short columella, Scoliosis, Webbed neck, Anal atresia |
ORPHA:3164 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Frontal bossing, Sinusitis, Anteverted nares |
ORPHA:238468 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Sensorineural hearing impairment, Microcephaly |
OMIM:278730 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Decreased fertility in females, Decreased fertility, Polyphagia, Triangula... |
OMIM:269700 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Severe short stature, Malar flattening |
OMIM:231070 |
Cowden Syndrome 1 |
|
Hypoplasia of the maxilla, Hydrocele testis, Micrognathia |
OMIM:158350 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Camptodactyly of finger, Cari... |
ORPHA:2908 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Microcep... |
OMIM:609049 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Spina bifida, Microcephaly, Meningocele, Abnormal ri... |
ORPHA:991 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Polyphagia, Triangular face, Decreased fertility in females |
OMIM:608594 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rh... |
OMIM:305100 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Triangular face, Prominent nose, Growth delay, Abn... |
ORPHA:3464 |
Phace Association |
|
Optic nerve hypoplasia, Congenital hypothyroidism, Cerebellar hypoplasia, Microphthalmia, Dandy-W... |
OMIM:606519 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia |
OMIM:601374 |
Noonan Syndrome 1 |
|
Male infertility, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidism, Dent... |
OMIM:163950 |
Stickler Syndrome |
|
Short stature, Abnormal dental enamel morphology, Anteverted nares, Micrognathia, Hypoplasia of t... |
ORPHA:828 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Basal ganglia calcification, Macrocephaly, Microphthalmia, Thickened cortex o... |
OMIM:127000 |
Dyskeratosis Congenita |
|
Short stature, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Intrauterine growth retarda... |
ORPHA:1775 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Micrognathia, Bilateral... |
ORPHA:1772 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Cystinosis, Nephropathic |
|
Male infertility, Frontal bossing, Short stature, Oral-pharyngeal dysphagia, Dysphagia, Growth de... |
OMIM:219800 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos |
OMIM:310600 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:221900 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Ablepharon Macrostomia Syndrome |
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Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, G... |
ORPHA:920 |
Peters-Plus Syndrome |
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Frontal bossing, Rhizomelia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Postnatal... |
OMIM:261540 |
Woodhouse-Sakati Syndrome |
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Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, T... |
OMIM:241080 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Choanal atresia, Hypoplasia of th... |
OMIM:604292 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, Convex nasal ridge |
OMIM:614437 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Schizencephaly, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Leukoencephalopathy, Hypop... |
OMIM:175780 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Cystic Fibrosis |
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Male infertility, Nasal polyposis, Chronic sinusitis |
OMIM:219700 |
Distal Deletion 19P |
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Hypoplasia of the maxilla |
ORPHA:96129 |
Singleton-Merten Syndrome 1 |
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Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the toot... |
OMIM:182250 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:180500 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Agenesis of corpus callosum |
ORPHA:401820 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the maxilla, Disproportionate short-trunk short stature |
OMIM:300106 |