Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
Scarf Syndrome |
|
Bifid scrotum, Ptosis, Inguinal hernia, Epicanthus, Craniosynostosis, Short neck, Cryptorchidism,... |
ORPHA:3134 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Pectus excavatum, Cryptorchidism, Brachyce... |
ORPHA:1695 |
Scarf Syndrome |
|
Barrel-shaped chest, Bifid scrotum, Inguinal hernia, Epicanthus, Prominent nasal bridge, Short ne... |
OMIM:312830 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Pect... |
ORPHA:3268 |
Dysosteosclerosis |
|
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... |
OMIM:224300 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Micrognathia, Brachycephaly, Thoracic kyphosis, Narrow chest, Abnormal femoral neck/h... |
ORPHA:163649 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa... |
OMIM:186500 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patellar hypoplasia, Congenital contracture, Clinodactyly of the 5th finger, Chronic otitis media... |
ORPHA:261279 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Flat occiput, Abnormal finger morphology, Brachycephaly, Short palm, Large... |
ORPHA:2511 |
Bent Bone Dysplasia Syndrome 2 |
|
Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatomegaly, Depres... |
OMIM:620076 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Depressed nasal ridge, Brachycepha... |
ORPHA:1520 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Synophrys, Brachycephaly, Abnormal form of the vertebral bodies, Pectus ca... |
ORPHA:1327 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Inguinal hernia, Hyperactivity, Anteverted nares, Depressed nasal bridge, Hi... |
OMIM:615834 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Epicanthus, Short neck, Dental malocclusion, Wide nas... |
OMIM:157980 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Synophrys, Dist... |
OMIM:602535 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micrognathia, Short neck, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Micropenis, ... |
OMIM:620073 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Epicanthus, Short neck, Abnormality of the thyroid gl... |
ORPHA:2563 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Anteverted nares, Depressed nasal bridge, Sandal gap, Micrognathia, Hyperlordosis,... |
OMIM:615761 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Micromelia, Proximal placement of thum... |
OMIM:122470 |
Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, Wide anter... |
OMIM:222448 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arac... |
OMIM:600325 |
Pierpont Syndrome |
|
Wide nose, Telecanthus, Short neck, Broad nasal tip, Cryptorchidism, Short toe, Blepharophimosis,... |
OMIM:602342 |
Pierpont Syndrome |
|
Telecanthus, Wide nasal ridge, Short neck, Cryptorchidism, Abnormal subcutaneous fat tissue distr... |
ORPHA:487825 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Brachycephaly, Pectus carinatum, Prominent interphalangeal joints, Long th... |
OMIM:618371 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Shor... |
OMIM:264180 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Wide nose, Epicanthus, Anteverted nares, Depressed nasal bridge, Hypospadias, Micr... |
OMIM:257300 |
Mosaic Trisomy 14 |
|
Frontal bossing, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Prominent nasal ... |
ORPHA:1703 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Tremor, Depressed nasal ri... |
ORPHA:96263 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Tremor, Depressed nasal ri... |
ORPHA:96264 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Abnormal rib morpholo... |
ORPHA:2790 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia... |
ORPHA:93267 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Clinodactyly, Unila... |
OMIM:618577 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Brachycephaly, Clinodactyly of ... |
OMIM:300882 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thor... |
ORPHA:1797 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Short neck, Tibi... |
OMIM:269150 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Flat occiput, Overlapping toe, Down-sloping shoulders, Prominent nasal bridge, Sho... |
OMIM:617452 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Cryptorchidism, Brachycephaly, Pectus carinatum, Scoliosis, Joint con... |
OMIM:615419 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Bulbous nose, Supernumerary tooth, Postaxial hand polydactyly, Postax... |
OMIM:258850 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ... |
ORPHA:628 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bri... |
ORPHA:2021 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Pectus excavatum, ... |
ORPHA:776 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Epicanthus, Arachnodactyly, Hypogonadot... |
ORPHA:377 |
Tarp Syndrome |
|
Finger syndactyly, Broad-based gait, Extramedullary hematopoiesis, Anteverted nares, Rocker botto... |
ORPHA:2886 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Clinodact... |
ORPHA:3082 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Synophrys, Brachycephaly, Prominent metopic ridge, Anteverted nares, ... |
OMIM:613792 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Short neck, Micrognathia, ... |
OMIM:263210 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
Poikiloderma With Neutropenia |
|
Frontal bossing, Depressed nasal bridge, Skin rash, Micrognathia, Carious teeth, Underdeveloped n... |
OMIM:604173 |
Cornelia De Lange Syndrome 2 |
|
Ptosis, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Shor... |
OMIM:300590 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thickened calvaria, Micrognathia, Hypoplasia of the maxilla, Prominent nos... |
ORPHA:439822 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Frontal bossing, Epicanthus, Anteverted nares, Prominent nasal bridge, Prominent... |
OMIM:616801 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Short neck, Brachycephaly, Syndactyly, Hyperactivity, Ataxia, Depressed na... |
ORPHA:369891 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Epicanthus, Thick eyebrow, Short neck, Synophrys, Rib fusion, Hemivertebrae, Brachycep... |
ORPHA:1394 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Hip subluxation, Scoliosis |
OMIM:620200 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short neck, Beaded ribs, Micrognathia, Flexion contracture, Brachycephaly, Micropenis, Anteverted... |
OMIM:616897 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Proximal placement of thumb, Kyphosis, Cryptorchidism, Brachycephaly, Plagiocephaly, ... |
OMIM:615433 |
German Syndrome |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Short... |
ORPHA:2077 |
Recombinant Chromosome 8 Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus excavatum, Cryptorchidism, Brachyc... |
OMIM:179613 |
Larsen-Like Syndrome |
|
Joint dislocation, Frontal bossing, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, ... |
OMIM:608545 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Ptosis, Choanal atresia, Hypoplasia of the maxilla, Abnormal sacru... |
ORPHA:93262 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Depressed nasal brid... |
ORPHA:1387 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme... |
ORPHA:2635 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Micro... |
OMIM:201000 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, Ataxia, Arachno... |
ORPHA:505237 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Tremor, Synophrys, Narrow chest, Recurrent aspiration pneumonia, Microretrognathia, A... |
ORPHA:280633 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Anteverted nares, Camptodactyly of finger, Congenital diaphragmatic hernia, Miss... |
ORPHA:1488 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Anteverted nares, Rocker bottom foot, Short neck, Inability t... |
OMIM:301041 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Brachycephaly, Coxa vara, Narrow chest, Hypoplast... |
ORPHA:1452 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Frontal bossing, Depressed nasal bridge, Anteverted nares, Promine... |
OMIM:617364 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal b... |
ORPHA:166024 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, Brachycephaly, ... |
ORPHA:435638 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Bulbous nose, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ste... |
ORPHA:2752 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of ... |
ORPHA:1988 |
2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, Enlarged thorax, Prominent metopic ridge, Tapered finger, Sparse eyebrow, Wide nas... |
ORPHA:261349 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Brachy... |
OMIM:156200 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal wide... |
OMIM:182212 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Hyperactivity, Epicanthus, Depressed nasal bridge, Ataxia, Sandal gap, Tapered f... |
OMIM:618430 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Tarp Syndrome |
|
Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypo... |
OMIM:311900 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Highly arched eyebrow, Short neck, Bifid nasal tip, Synophrys, Vertebral cl... |
OMIM:616854 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
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 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Calcaneovalgus deformity, Brachycephaly, Micropenis, Depressed nasal bridge, Arachnodactyly, Cryp... |
OMIM:612513 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Frontal bossing, Sacral dimple, Epicanthus, Aggressive behavior, 2-3 toe c... |
OMIM:615828 |
Trisomy 20P |
|
Short neck, Micrognathia, Brachycephaly, Abnormal form of the vertebral bodies, Vertebral segment... |
ORPHA:261318 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Brachycephaly, Gait ataxia, Prominent interphalangeal joints, Co... |
OMIM:135900 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Turricephaly,... |
ORPHA:171839 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped rib... |
OMIM:614524 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Inability to walk, Long fingers, Flexion contracture, ... |
OMIM:218000 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurr... |
OMIM:602271 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Missing ribs, Bilateral cr... |
OMIM:619859 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Wide cranial sutures, Narrow nasal ... |
OMIM:219150 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Syndactyly, Sacral dimple, Wide nose, Broad hallux, Hypospadias, Wide anterior fon... |
OMIM:239710 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Frontal bossing, Absent eyebrow, Hypospadias, Abnormal dental ename... |
ORPHA:85199 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Brachycephaly, Pectus carinatum, Short palm, Clinodactyly of the 5th finger, Abnor... |
ORPHA:363659 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Al Kaissi Syndrome |
|
Sacral dimple, Broad-based gait, Depressed nasal bridge, Torticollis, Epicanthus, Broad nasal tip... |
OMIM:617694 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Prominent metopic ridge, Arachnodactyly, Eczema, Postaxia... |
OMIM:619721 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Micrognathia, Synophrys, Brachycephaly, Abnormal form of the vertebral bod... |
ORPHA:819 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Epicanthus, Telecanthus, Underdeveloped nasal alae... |
OMIM:601224 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short... |
ORPHA:2319 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... |
ORPHA:2180 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrena... |
OMIM:220210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Hyperactivity, Anteverted nares, Aggressive behavior, Precocious puberty, Bulbo... |
OMIM:300958 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis,... |
ORPHA:2522 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Hallux valgus, Wide nose, Congenital hip dislocation, Thick eyebrow, Kyphoscoliosi... |
OMIM:300280 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow,... |
OMIM:618828 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation ... |
OMIM:312870 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, F... |
OMIM:200610 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Epicanthus, Craniosynostosis, Blepharophimosis, Long fingers, Bulb... |
OMIM:613174 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Micrognathia, Gastrointestinal inflammation, Enlarged thorax, Inflammation of the lar... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Short neck, Micrognathia, Gastrointestinal inflammation, Enlarged thorax, Inflammation of the lar... |
ORPHA:99228 |
Monosomy X |
|
Short neck, Micrognathia, Gastrointestinal inflammation, Enlarged thorax, Inflammation of the lar... |
ORPHA:99226 |
Turner Syndrome |
|
Short neck, Micrognathia, Gastrointestinal inflammation, Enlarged thorax, Inflammation of the lar... |
ORPHA:881 |
Kbg Syndrome |
|
Short neck, Epispadias, Synophrys, Brachycephaly, Thoracic kyphosis, Short palm, Clinodactyly of ... |
OMIM:148050 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal ... |
ORPHA:3404 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Micrognathia, Short tubular bones of the hand, Wide anterior fontanel, ... |
ORPHA:85184 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Wormian bones, Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphos... |
OMIM:259420 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Hyperactivity, Midface retrusion, Abnormality of the thyroid gland, Synoph... |
OMIM:182290 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ... |
OMIM:212720 |
Monosomy 18P |
|
Ptosis, Epicanthus, Generalized dystonia, Kyphoscoliosis, Micrognathia, Pectus excavatum, Short n... |
ORPHA:1598 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Brachycep... |
ORPHA:1798 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micrognathia, Micromelia, Proxi... |
ORPHA:199 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Tapered finger, Aggressive behavior, Cryptorchidism, Hip dislocation, Wide n... |
OMIM:619435 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Broad eyebrow, Proximal placement of thumb, Long nose, Bulbous nos... |
OMIM:620113 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Synophrys, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Clinodactyly of the 5th fin... |
OMIM:614701 |
Grant Syndrome |
|
Joint dislocation, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Micrognathi... |
ORPHA:2097 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Depressed nasal bridge, Hypospadias, Micrognathia, Synophrys, Brachycephaly, Scoliosi... |
ORPHA:1913 |
Desanto-Shinawi Syndrome |
|
Depressed nasal bridge, Aggressive behavior, Short neck, Bulbous nose, Synophrys, Brachycephaly, ... |
OMIM:616708 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Micrognathia, Abnormal nasal mor... |
ORPHA:404440 |
Contractural Arachnodactyly, Congenital |
|
Short neck, Micrognathia, Brachycephaly, Pectus carinatum, Knee flexion contracture, Wrist flexio... |
OMIM:121050 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Micro... |
OMIM:613849 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Telecanthus, Anteverted nares, Ataxia, Brachycephaly, Midface retrusion |
ORPHA:1532 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Abnormal vertebral morphology, Absent eyebro... |
ORPHA:2273 |
Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Synophrys, Brachycephaly, Knee flexion contracture, Shor... |
OMIM:613776 |
Anauxetic Dysplasia 3 |
|
Femoral bowing, Narrow chest, Trident hand, Short metacarpal, Depressed nasal bridge, Thoracolumb... |
OMIM:618853 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Hepatomegaly, Frontal bossing, Micrognathia, Long nose, Cryptorchidism, A... |
ORPHA:52 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology,... |
ORPHA:93351 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Turricephaly, Ataxia, Anteverted nares, Craniosynostosis, Decreased response to gr... |
OMIM:601853 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Brachycephaly, Choreoathetosis, Parietal bossing, Hyperactivi... |
OMIM:234100 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Brachycephaly, Long eyelashes, Short nose, ... |
ORPHA:1514 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Brachycephaly, Sprengel anomaly, Clinodactyly of the... |
OMIM:304110 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Decr... |
OMIM:259440 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Synophrys, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Hypothyroidism,... |
ORPHA:254346 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Hepatomegaly, Abnormal eyel... |
ORPHA:1775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Broad-based gait, Anteverted nare... |
OMIM:309583 |
Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Hypothyroidism, Synostosis ... |
ORPHA:3258 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Abnor... |
ORPHA:175 |
Achondrogenesis Type 1B |
|
Frontal bossing, Femoral hernia, Anteverted nares, Micromelia, Short neck, Micrognathia, Short th... |
ORPHA:93298 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pect... |
ORPHA:2911 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Carious teeth, Scarring alopecia of scalp, Sparse eyebrow, Keratitis, Folliculi... |
OMIM:612843 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Kyphoscoliosis, Highly arched eyebrow, Bulbous nose, Brachycephaly, Plagio... |
OMIM:618644 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Frontal bossing, Depressed nasal bridge, Wide nasal bridge, Dysphagia, Brachycephal... |
OMIM:264470 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Thickened calvaria, Flat occiput, Epicanthus, Microgn... |
ORPHA:2780 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric... |
ORPHA:2050 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Hernia, Anteverted nares, Abnormal dental enamel... |
ORPHA:582 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Kyphoscoliosis, Dolichocephaly, Splenomegaly, Synoph... |
OMIM:252930 |
Chopra-Amiel-Gordon Syndrome |
|
Almond-shaped palpebral fissure, Flared nostrils, Brachycephaly, Upslanted palpebral fissure, Att... |
OMIM:619504 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Pectus excavatum, Brachycephaly, Gait ataxia, Eyelid coloboma, Downslanted... |
OMIM:268850 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Slender nose, Epicanthus, Ataxia, Arachnodactyly, Short neck, Micrognathia, Flexion contracture, ... |
ORPHA:562528 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Scapular winging, Anteverted nares, Epicanthus, Supernumerary nipple, Micrognath... |
OMIM:619122 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gland, Abnormal rib mo... |
ORPHA:2234 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatarsal osteolys... |
OMIM:259600 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Epicanthus, Anteverted nares, External genital hypoplasia, Highly arched eyebr... |
ORPHA:324313 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Brachycephaly, Upslanted palpebral fissure, Hypogonadism, Retrognathia |
ORPHA:2528 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hypospadias, Supernumerary nipple, Hypoplasia of the maxilla, Absent eyelashes,... |
OMIM:106260 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Hyperactivity, Epicanthus, Broad nasal tip, Aggressive behavior, Cryptorchidism,... |
ORPHA:3306 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Depressed nasal brid... |
OMIM:151210 |
Potocki-Shaffer Syndrome |
|
Epicanthus, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Par... |
ORPHA:52022 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Brachycephaly, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short ... |
OMIM:250250 |
Melnick-Needles Syndrome |
|
Omphalocele, Delayed eruption of teeth, Bowing of the long bones, Frontal bossing, Craniofacial h... |
ORPHA:2484 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... |
OMIM:128100 |
Cebalid Syndrome |
|
Turricephaly, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Highly a... |
OMIM:618774 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morpho... |
ORPHA:207 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Abnormal morphology of uln... |
ORPHA:2633 |
Craniodiaphyseal Dysplasia |
|
Frontal bossing, Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide... |
ORPHA:1513 |
Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Flat occiput, Anteverted nares, Brachycephaly, Short nose |
ORPHA:46 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Ili... |
ORPHA:239 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, Clin... |
ORPHA:96148 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... |
ORPHA:570 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Frontal bossing, Anteverted nares, Rocker bottom foot, Proximal... |
OMIM:619762 |
Chromosome 2Q37 Deletion Syndrome |
|
Short fourth metatarsal, Brachycephaly, Abnormal repetitive mannerisms, Short phalanx of finger, ... |
OMIM:600430 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Brachycephaly, Long thorax... |
OMIM:617925 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe... |
OMIM:101200 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Proximal placement of thumb, Short neck, Brachycephaly, Abnormal repetitiv... |
OMIM:212066 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... |
OMIM:271650 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Ataxia, Short neck, Cryptorchidism, Bulbous nose, Brachy... |
OMIM:616789 |
Frank-Ter Haar Syndrome |
|
Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Brachycephaly, Short palm, ... |
OMIM:249420 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Synophrys... |
ORPHA:261112 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, ... |
OMIM:619995 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Bilateral cryptor... |
OMIM:305400 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Multiple joint dislocation, Brachyceph... |
OMIM:245600 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
Cdags Syndrome |
|
Frontal bossing, Ectropion, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Parietal fo... |
OMIM:603116 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... |
OMIM:616602 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Epicanthus, Depressed nasal bridge, Anteverted nares, Sandal gap, Aggressive behav... |
OMIM:617752 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Thickened ribs, Hyperactivity, Splenomegaly, Synophrys, Recurrent ... |
OMIM:252900 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Frontal bossing, Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Bra... |
OMIM:608776 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short neck, Brachycephaly, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal... |
ORPHA:2145 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Genu recurvatum, Aggressive behavior, Kyphosis, Cryptorchidism, Brachyceph... |
ORPHA:364028 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Kyphoscoliosis, Micrognathia, Blepharophimosis, Inability to walk, Hypoplastic lab... |
OMIM:614222 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Gait ataxia, Brachycephaly, Dysmetria, Short neck |
ORPHA:320385 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Dysphagia, ... |
OMIM:619565 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m... |
OMIM:608940 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Short neck, Micrognathia, Brachycephaly, Abnormal parietal bone morphology... |
ORPHA:247262 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Triphalangeal th... |
ORPHA:794 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... |
OMIM:618736 |
Sweeney-Cox Syndrome |
|
Flat occiput, Micrognathia, Bilateral cryptorchidism, Asplenia, Brachycephaly, Narrow chest, 2-5 ... |
OMIM:617746 |
Septopreoptic Holoprosencephaly |
|
Impulsivity, Precocious puberty, Abnormal rib morphology, Dysphagia, Anterior hypopituitarism, Ce... |
ORPHA:280195 |
Muenke Syndrome |
|
Ptosis, Midface retrusion, Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycepha... |
OMIM:602849 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Epicanthus, Arachnodactyly, Choanal atresia, Missing ribs, Abnormal rib morphology, Wide nasal br... |
ORPHA:2759 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... |
OMIM:268310 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Frontal bossing, Femoral hernia, Anteverted nares, Micromelia, Short neck... |
ORPHA:93299 |
2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Broad hallux phalanx, Anteverted nares, Prominent nasal bridge, Arachn... |
ORPHA:251019 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru... |
ORPHA:2578 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivertebrae, Brachycephaly, Dysmetri... |
ORPHA:96121 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Syndactyly, Anteverted nares, Down-sloping shoulders, Prominen... |
OMIM:227330 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Ataxia, Sandal gap, Highly arched eyebrow, Cryptorchidism, Sy... |
ORPHA:228402 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger syndactyly, P... |
ORPHA:2215 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Arthropathy, Nodular goiter, Premature thelarche, Sclerotic cranial sutures, Osteoly... |
ORPHA:371428 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaph... |
OMIM:300863 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Thrombocytopenia, Bell-shaped thorax, Normochromic... |
OMIM:614857 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Brachycephaly, Hip dysplasia, Scoliosis, Camptodacty... |
OMIM:611961 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide anterior fo... |
OMIM:269300 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Narrow chest, Arachnodactyl... |
OMIM:207410 |
Thanatophoric Dysplasia, Type Ii |
|
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia... |
OMIM:187601 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Craniof... |
OMIM:122860 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Hernia, Abnormal vertebral morphology, Hepatomegaly, De... |
ORPHA:93473 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Hypogonadotropic hypogonadism, Prominent nasal br... |
ORPHA:3068 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Folliculitis, Conjunctiv... |
OMIM:308800 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Pectus carinatum... |
OMIM:271665 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, ... |
ORPHA:1834 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Abnormal eyelid morphology, ... |
ORPHA:2990 |
Loeys-Dietz Syndrome 5 |
|
Osteoarthritis, Brachycephaly, Pectus carinatum, Bilateral coxa valga, Scapular winging, Arachnod... |
OMIM:615582 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Brachycephaly, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, 2-3 toe s... |
OMIM:619229 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Brac... |
ORPHA:500055 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Kyphoscoliosis, Brachycephaly, Vertebral wedging, Coxa vara, Biconcave verte... |
OMIM:610968 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Frontal bossing, Epicanthus, Depressed nasal bridge, Rocker bottom foot, Telecanthus, ... |
OMIM:612582 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... |
OMIM:252940 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Aggressive behavior, Splenomegaly, Synophrys, Recurr... |
OMIM:252920 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Epicanthus, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Pectus excavat... |
OMIM:617808 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Wide cranial sutures, Pectus excavatum, Kyphosi... |
OMIM:616294 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Small scrotum, Depressed nasal bridge, Rocker bottom foot, ... |
OMIM:601353 |
Mosaic Trisomy 8 |
|
Frontal bossing, Wide nose, Anteverted nares, Camptodactyly of finger, Short neck, Micrognathia, ... |
ORPHA:96061 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... |
OMIM:618395 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ... |
ORPHA:163966 |
Kagami-Ogata Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Long clavicles, Anteverted nares, Depressed nasal bri... |
OMIM:608149 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Ataxia, Brachycephaly |
ORPHA:404493 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Bilateral ptosis, Brachycephaly, Inappropriate laughter, Recurrent hand flappin... |
OMIM:618859 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
2-3 toe cutaneous syndactyly, Brachycephaly, Clinodactyly of the 5th finger, Abnormal repetitive ... |
OMIM:300260 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Epicanthus, Depressed nasal bridge, Aplasia of the thymus, Decreased response... |
OMIM:618223 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetrapho... |
OMIM:215140 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Anteverted nares, Camptodactyly of finger, Choanal atresia, Arachn... |
ORPHA:83 |
Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Shallow orbits, Death ... |
OMIM:613848 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:604292 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte... |
OMIM:612921 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphol... |
ORPHA:64755 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Abnormally ossified vertebrae, Radial bowing, Micrognathia... |
ORPHA:3035 |
Phaver Syndrome |
|
Broad hallux phalanx, Epicanthus, Depressed nasal bridge, Camptodactyly of finger, Short thumb, A... |
ORPHA:2876 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... |
OMIM:224690 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Waddling gait, Delayed eruption of teeth, Short metacarpal, Rhizomelia, Enla... |
ORPHA:263463 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Epicanthus... |
ORPHA:2962 |
White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Brachycephaly, ... |
OMIM:616364 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism, Abnormality of the cer... |
OMIM:307500 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flat occiput, Flexion contracture, Gait ataxia, Pectus carinatum, Broad columella, Hepatomegaly, ... |
OMIM:619383 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Self-injurious behavior, Brachycephaly, Limb tremor, Aggressive behavior |
OMIM:300699 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Brachycephaly, Shallow orbits, Clinodactyly of the 5th finger, P... |
ORPHA:1272 |
Trisomy 9P |
|
Sacral dimple, Short neck, Abnormal nasal morphology, Kyphosis, Brachycephaly, Impacted tooth, Sc... |
ORPHA:236 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Pectus excavatum, Bilateral cryptorchi... |
ORPHA:314575 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brachycephaly, Abnormality o... |
OMIM:109120 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Recu... |
ORPHA:583 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Synophrys, Brachycephaly, Hypopl... |
OMIM:619512 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Tapered finger, Small hand, Depressed nasal ridge, Brach... |
OMIM:618672 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Anteverted nares, Rh... |
OMIM:611209 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Thickened ribs, Frontal bossing, Death in infancy, Short neck, Kyp... |
OMIM:230500 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Short neck, Micrognathia, Brachycephaly, Choanal stenosis, Neo... |
OMIM:259775 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Brachycephaly, Hypoplasia of the thymus, Narrow ch... |
OMIM:264090 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:178377 |
Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Ovoid vertebral... |
OMIM:244450 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Convex nasal ridge, Abn... |
ORPHA:666 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... |
ORPHA:2062 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Kinetic tremor, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavat... |
OMIM:616817 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Proximal placement of thumb, Micrognathia, Short neck, Limited elbow movement, Syn... |
OMIM:610759 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Epicanthus, Hypoplasia of penis, Ataxia, Cryptorchidism, Congenital hepatic fi... |
ORPHA:2377 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Abnormal repetitive ma... |
ORPHA:261197 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
Crouzon Syndrome |
|
Mandibular prognathia, Abnormality of the cervical spine, Frontal bossing, Sagittal craniosynosto... |
OMIM:123500 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blepharitis |
OMIM:602400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Ataxia, Pectus excavatum, Brach... |
OMIM:615398 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Pectus excavatum, Flexion contracture, Brachycephaly, Plagiocephaly, Gai... |
ORPHA:272 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Entropion, Ataxia, Flat nasal alae, Kerat... |
ORPHA:910 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Brachycephaly, Narrow chest, Bilateral coxa valga, Clinodactyly of the 5th finger, Hyp... |
OMIM:618268 |
Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Hyperactivity, Ataxia, Flat occiput, Hypoplasia of the m... |
OMIM:105830 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... |
ORPHA:1486 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Unilateral ptosis, Synophrys, Brachycephaly, Pectus carinatum, Long toe, A... |
ORPHA:3063 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Midface retrusion, Small abnormally ... |
OMIM:187600 |
Down Syndrome |
|
Epicanthus, Depressed nasal bridge, Sandal gap, Short neck, Abnormality of the lymphatic system, ... |
ORPHA:870 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Pectus excavatum, Brachycephaly, Pectus carinatum, Plagiocephaly, Scoliosis, Toe ... |
OMIM:619910 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Choanal stenosis, Spina... |
OMIM:218600 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Thickened ribs, Short neck, Brachycephaly, Pectus carinatum, Cortical thic... |
ORPHA:309282 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... |
ORPHA:958 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Short neck, Brachycephaly, Patellar hypoplasia, Bilateral coxa valga, Micropenis, ... |
ORPHA:495818 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly |
ORPHA:35099 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... |
OMIM:305620 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Dea... |
ORPHA:800 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Lateral clavicle hook, Brachycephaly, Femoral bowing, Abnormal shoulder morphology,... |
OMIM:274000 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Synophrys, Br... |
ORPHA:1299 |
Distal Deletion 12Q |
|
Micrognathia, Short neck, Biliary atresia, Brachycephaly, Aplasia/Hypoplasia of the middle phalan... |
ORPHA:96149 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Beaded ribs, Absent ossification of calvari... |
OMIM:166210 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Akinesia, Micrognat... |
OMIM:253290 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Inguinal hernia, Short metacarpal, Radial bowing, Femoral retroversion, Wide... |
OMIM:610915 |
8Q12 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Brachycephaly, Wide nasal bridge, Short foot, Att... |
ORPHA:228399 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormal eyelash morphology, Kyphosis, Postaxial hand polyda... |
ORPHA:3378 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Synophrys, Brachycephaly, Hernia, Chronic otitis medi... |
ORPHA:261494 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Epicanthus, Tapered finger, Synophrys, Brachycephaly, Wide nasal bridge, Congenital hypothyroidis... |
ORPHA:352530 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
White Forelock With Malformations |
|
Finger syndactyly, Epicanthus, Abnormal rib morphology, Dolichocephaly, Clinodactyly of the 5th f... |
ORPHA:2475 |
Myhre Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... |
ORPHA:2588 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Patellar... |
ORPHA:477 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Inability to walk, Brachycephaly, Gait ataxia, Death in childhood, Dyspha... |
DECIPHER:45 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Abno... |
ORPHA:249 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Aggressive behavior, Prominent nose, Cryptorchidism, Kyphosis, Brachycepha... |
OMIM:619244 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Brachycephaly, Abnormality... |
ORPHA:1606 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Epicanthus, Craniosynostosis, Coxa valga, Brachycephaly, Hypoplastic vertebral bodies, Plagioceph... |
ORPHA:2163 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Epicanthus, Anteverted nares, Ovoid vertebral bodies, Sh... |
ORPHA:1517 |
Alg9-Cdg |
|
Short neck, Micrognathia, Brachycephaly, Narrow greater sciatic notch, Shallow orbits, Microretro... |
ORPHA:79328 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Epicanthus inversus, Flexion contracture, Brachycephaly, Micropenis, Abnormal repet... |
OMIM:309590 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, External genital hypoplasia, Short neck, Micrognathia, Hypoplasia of the m... |
ORPHA:96334 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Frontal bossing, Wide nose, Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperactivity, Hyperl... |
OMIM:616078 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Inguinal hernia, Persistent open anterior fontanelle, Arachnodactyly, Telecanthu... |
OMIM:615539 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, Prominent nose, Brachycephaly, Prominent fingertip pads, Thick... |
OMIM:619950 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Renpenning Syndrome |
|
Mandibular prognathia, Epicanthus, Diabetes mellitus, Hypospadias, Prominent nose, Pectus excavat... |
ORPHA:3242 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Anteverted nares, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, A... |
ORPHA:73230 |
Sclerosteosis 1 |
|
Mandibular prognathia, Cortically dense long tubular bones, Syndactyly, Frontal bossing, Depresse... |
OMIM:269500 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Upslanted palpebral fissure, Dec... |
ORPHA:93950 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... |
ORPHA:2769 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni... |
OMIM:263750 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Anteverted nares, Highly arched eyebrow, Tapered finger, Supernumerary nipple, S... |
OMIM:616728 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, C... |
ORPHA:1507 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Brachycephaly, Femoral bowing, Narrow chest, Anteverted nares, Depressed nas... |
OMIM:618188 |
Hunter-Macdonald Syndrome |
|
Brachycephaly, Pectus carinatum, Pseudoepiphyses, Clinodactyly of the 5th finger, Hypospadias, 2-... |
OMIM:611962 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Broad nasal tip, Micrognathia, Cryptorchid... |
OMIM:609757 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Short neck, Micrognathia, Long nose, Choreoathetosis, Clinodactyly of the 5th finger, Micropenis,... |
OMIM:620224 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Spinal cana... |
OMIM:277600 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... |
ORPHA:79345 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
Hamamy Syndrome |
|
Micrognathia, Microcytic anemia, Brachycephaly, Clinodactyly of the 5th finger, Long toe, Syndact... |
OMIM:611174 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:312150 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Flat occiput, Increased vertebral height, Vacuolated lymphocytes, Depresse... |
OMIM:248500 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synoph... |
OMIM:211380 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Distal Deletion 3P |
|
Sacral dimple, Inguinal hernia, Anteverted nares, Epicanthus, Telecanthus, Micrognathia, Short ne... |
ORPHA:1620 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Wide nose, Arachnodactyly, Pectus excavatum, Synophrys, Abnormality of the palpebral fissures, Th... |
ORPHA:2463 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Telecanthus, Camptodactyly of finger, Supernumerary nippl... |
ORPHA:1236 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... |
ORPHA:2970 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Abnormality of the ... |
OMIM:601076 |
Clouston Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Blepharitis |
OMIM:129500 |
Gm1 Gangliosidosis Type 1 |
|
Frontal bossing, Exaggerated startle response, Depressed nasal bridge, Spatulate ribs, Broad nasa... |
ORPHA:79255 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, ... |
OMIM:619636 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Short neck, Micrognathia, Synophrys, Flexion contracture, Waddling gait, Hepa... |
OMIM:620369 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Adrenal hypoplasia, Micrognathia, Death in childhood, Loss of ambulation, Intrahepa... |
OMIM:214100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Brachycephaly |
OMIM:309545 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowin... |
OMIM:601559 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Micrognathia, Brachycephaly, Narrow chest, Advanced eruption of teeth, Distally pl... |
OMIM:619148 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Pectus excavatum, Long fingers, Short neck, Bra... |
OMIM:156610 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Ambiguous genitalia, Hypospadias, Abnormal rib m... |
ORPHA:276422 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... |
ORPHA:56304 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphys... |
OMIM:118650 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion contracture, Brachycephal... |
OMIM:259050 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Synophrys, Brachycephaly, Irregular vertebral endplates, Posterior scalloping of vert... |
OMIM:610442 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabul... |
OMIM:610682 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Blepharitis |
OMIM:300918 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Telecanthus, Small scrotum, Depressed nasal bridge, Anteverted nares, Underdevel... |
ORPHA:228390 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Micrognathia, Pec... |
OMIM:606851 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, Ectropion of lower eyelids, Preaxial polydactyly, Brachycep... |
OMIM:614976 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Mesomelic/rhizom... |
ORPHA:2347 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Dolichocephaly, Abs... |
OMIM:271520 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Bilateral cryptorchidism, Depressed nasal ridge, Brach... |
OMIM:613451 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Lateral clavicle hook, Preaxial hand polydactyly, Posta... |
OMIM:263520 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Abnormal reproductive system morphology, Inability to walk, Brachyc... |
ORPHA:70472 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... |
OMIM:616229 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Micrognathia, Synophrys, Brachycephaly, Neonatal death, Mic... |
OMIM:612289 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Shallow orbits, Short phalanx... |
OMIM:258480 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Ptosis, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Broad nas... |
ORPHA:1784 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln... |
OMIM:200980 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Choanal atresia, Mi... |
OMIM:156400 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Pectus excavatum, Inguinal hernia, Plagiocephaly, Brachycephaly |
OMIM:618603 |
Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Kyphosis, Abnormality of the gallbladder, Brachycephaly, Anterior beak... |
ORPHA:349 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Diabetes mellitus, Abnormal dental enamel morphology, Kyphoscoliosis, ... |
OMIM:601701 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Hypothyroidism, ... |
OMIM:607872 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of the primary teet... |
OMIM:257850 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Highly arched eyebr... |
OMIM:618142 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Broad ... |
OMIM:608328 |
Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Hypospadias, Pectus excavatum, Cryptorchidism, Wide nasal bridge, Decreased fer... |
ORPHA:500 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Torticollis, Depressed nasal bridge, Kyphosis, Cranial asymmetry... |
OMIM:609128 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse eyelashes, Eczema, Blepharitis |
OMIM:618535 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Head titubation, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Dysphagia... |
OMIM:614688 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Choanal stenosis, Micropenis, Pancre... |
ORPHA:83617 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Small scrotum, Short neck, Brachycephaly, Posterior plagiocephaly, Abnorma... |
OMIM:620330 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, ... |
ORPHA:1225 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Prominent nose, Ta... |
OMIM:300968 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Delayed puberty |
OMIM:616834 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Epicanthus, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Spa... |
ORPHA:459061 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Epicanthus, Telecanthus, Hypoplasia of penis, Micrognathia, Cryptorch... |
ORPHA:99812 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... |
ORPHA:1120 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Death in infancy, Micromel... |
ORPHA:1318 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Ataxia, Scarring, Delayed eruption of primary teeth, Kyphosi... |
ORPHA:90322 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Erythroderma |
OMIM:614328 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Tapered finger, Pectus excavatum, Aggressive behavior, Pectu... |
ORPHA:65286 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Micromelia, Postaxial polyd... |
OMIM:617895 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Vaginal hernia, Abnormal dental enamel morph... |
ORPHA:2916 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... |
OMIM:609945 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Wide nasal bridge, Thin ribs, Femoral bowing, Long eyelas... |
OMIM:617952 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Ataxia, Postural tremor, Tapered... |
OMIM:301072 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Anteverted nares, Prominent nasal bridge, Inability to walk, Cryptorchidism, Flexi... |
OMIM:615663 |
Congenital Myopathy 13 |
|
Telecanthus, Kyphoscoliosis, Micrognathia, Cryptorchidism, Flexion contracture, Brachycephaly, Sc... |
OMIM:255995 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Metaphyseal widening, Pectus carinatum, Knee dislocation, Clinodactyly of ... |
OMIM:620083 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Downslant... |
ORPHA:2643 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Congenital hip dislocation, Ataxia, Supernumerary nipple, Aggressive behavior, D... |
ORPHA:457279 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Gait ataxia, Abnormal shoulder morphology, Bradykinesia, Gait disturbanc... |
ORPHA:157941 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe... |
OMIM:600920 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Ataxia, Progressive flexion contractures, Abnormal location of ... |
ORPHA:522077 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly, Aggressive behavior |
OMIM:309530 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Sparse eyelashes, Hypospadias, Phimosis, Carious te... |
OMIM:305000 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Underdeveloped nasal alae, Sy... |
OMIM:193500 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Anorexia, Abnormal eyelid morphology, Pustule, Cheilitis, Conjunctiv... |
ORPHA:37 |
Frontofacionasal Dysplasia |
|
Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Limbal d... |
ORPHA:1791 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Hemivertebrae, Abnormal sternum morphology, Parietal bossing, Vertebral fu... |
OMIM:109400 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abnormal form ... |
ORPHA:93941 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Choanal atresia, Micrognathia, C... |
ORPHA:1300 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Hyperactivity, Epicanthus, Ovarian fibroma, Short neck, Pectus excavat... |
ORPHA:77301 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Eyeli... |
ORPHA:861 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Wide nasal bridge, Gen... |
OMIM:619698 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Broad hallux, Sandal gap, Micromelia, Short neck, Hyposegmentation of neu... |
OMIM:614800 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... |
OMIM:119600 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Pontocerebellar Hypoplasia, Type 3 |
|
Long palpebral fissure, Depressed nasal bridge, Brachycephaly |
OMIM:608027 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Hypospadias, Persistence of primary teeth, ... |
OMIM:610253 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the v... |
ORPHA:581 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Enthesitis, Vertebral hyper... |
ORPHA:89936 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Rocker bottom foot, Dolichocephaly, Wide nasal bridge, Prominent oc... |
ORPHA:89844 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Death in childhood, Clinodactyly of the 5th f... |
OMIM:309500 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Inguinal hernia, Tapered toe, Sparse eyelashes, Tapered finger, Bi... |
ORPHA:544488 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi... |
OMIM:271640 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Short neck, Micrognathia, Prominent nose, Tremor, Synophrys, Brachycephaly... |
OMIM:612474 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Limb-Mammary Syndrome |
|
Syndactyly, Absent lacrimal punctum, Toe syndactyly, Psoriasiform dermatitis, Chronic irritative ... |
ORPHA:69085 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Brachycephaly |
OMIM:309541 |
Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Bifid scrotum, Abnormal intervertebral disk morphology, Hypoplasi... |
ORPHA:887 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Short neck, Micrognathia, Narrow chest, Syndactyly, Hepatomegaly,... |
OMIM:613610 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overlapping fingers, Torticollis, Short neck, Micrognathia, Femo... |
OMIM:617022 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Brachycephaly, Uveitis, Rib exostoses, Clinodactyly of the 5th finger, Hypothyroidi... |
ORPHA:2108 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Midface retrusion, Wide cranial sutures, Lipoatrophy, Sparse eyelashes, Limite... |
OMIM:614008 |
Ifap Syndrome 2 |
|
Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Angular cheilitis |
OMIM:619016 |
Gapo Syndrome |
|
Hepatomegaly, Frontal bossing, Epicanthus, Anteverted nares, Depressed nasal bridge, Delayed clos... |
OMIM:230740 |
Acromelic Frontonasal Dysplasia |
|
Telecanthus, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Broad nasal t... |
ORPHA:1827 |
Trisomy 1Q |
|
Omphalocele, Microretrognathia, Wide nose, Toe syndactyly, Depressed nasal bridge, Camptodactyly ... |
ORPHA:261344 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic ... |
ORPHA:373 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Prominent metopic ridge, Anteverted nares, Aggressive behavior, Inability to walk,... |
OMIM:103050 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Brachycep... |
ORPHA:3103 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Kagami-Ogata Syndrome |
|
Omphalocele, Frontal bossing, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Kyphosco... |
ORPHA:254519 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Epicanthus, Flat occiput, Arachnodactyly, Telecanthus, Clitoral hypertrophy, Micr... |
ORPHA:2707 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Hooded eyelid, Congenital diaphragmatic ... |
ORPHA:96170 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Metaphyseal widening, Death in childhood, Hepatomegaly, Anteverted nares, Thoracolu... |
OMIM:252500 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Epicanthus, Prominent nose, Cryptorchidism, Hypothyroidism... |
OMIM:606593 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Dacryocystitis, Abnormal rib morpho... |
ORPHA:1163 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Flat occiput, Abnormal pen... |
ORPHA:2211 |
19P13.13 Microdeletion Syndrome |
|
Epicanthus, Sandal gap, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Long fingers,... |
ORPHA:357001 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormally ossified vertebrae, Micrognathia, Missing ribs,... |
ORPHA:3301 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Missing ribs, Hiatus hernia, Precocious puberty, R... |
ORPHA:50 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Flexion contracture, Depressed nasal bridge, Brachycephaly, Micrognathia |
OMIM:620240 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Flexion contracture, Brachycephaly, Macrovesicular hepatic steatosis, Shallow orbit... |
OMIM:619127 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Brachycephaly, Hepatic fibrosis, Bacterial endocarditis, Hepatosplenom... |
ORPHA:2072 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Cholecystitis, Broad ribs, Abnormal repetitive mannerisms, Broad metacarpals, Hepatome... |
OMIM:301066 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Turricephaly, Abnormal morphology of ulna, Abnormal mesentery morp... |
ORPHA:2167 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Asplenia, Hemivertebrae, Finger clinod... |
ORPHA:99776 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal ... |
ORPHA:3015 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... |
ORPHA:97360 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Micromelia, Cryptorchidism, Abnormal rib morphology, Decreased calvarial oss... |
ORPHA:2772 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placemen... |
ORPHA:818 |
Aspartylglucosaminuria |
|
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Acne, Kyphosis, Hypoplastic frontal sinus... |
OMIM:208400 |
3Mc Syndrome 2 |
|
Ptosis, Prominence of the premaxilla, Torticollis, Hypospadias, Prominent nasal bridge, Craniosyn... |
OMIM:265050 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Doors Syndrome |
|
Adrenal hyperplasia, Hemivertebrae, Abnormal finger morphology, Brachycephaly, Triphalangeal thum... |
ORPHA:79500 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Inguinal hernia, Epicanthus, Prominent nose, Wide nasal bridge, Symphalangism af... |
ORPHA:1292 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Micrognathia, Death in childhood, Micropenis, Abnormal repeti... |
OMIM:619005 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Depressed nasal bridge, Craniosynostosis, Micrognathia, Pectus excavatum, Pre... |
ORPHA:369837 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Short neck, Micrognathia, Prominent nose, Prominent fingertip pads, ... |
OMIM:305450 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Hypoplasia of th... |
ORPHA:2673 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Telecanthus, Broad nasal tip, Bifid nasal tip, Cry... |
OMIM:603671 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Telecanthus, Underdeveloped nasal alae, Absent inner eyelashes, Brachyc... |
OMIM:229400 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Hepatomegaly, Ptosis, Anteverted nares, Oral-pharyngeal dysphagia, Small hand, Brac... |
OMIM:615273 |
Duplication Of The Pituitary Gland |
|
Thoracic scoliosis, Abnormal odontoid process morphology, Short neck, Supernumerary tooth, Abnorm... |
ORPHA:314621 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Joint dislocation, Telecanthus, Arachnodactyly, Scarring, Recurrent skin infec... |
OMIM:601776 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Inguinal hernia, Telecanthus, Anteverted nares, Micrognathia, Pectus excavatum, Wide anterior fon... |
OMIM:618548 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum... |
OMIM:276820 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Brachycephaly, Clinodactyly of the 5th finger, Antevert... |
ORPHA:1449 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ... |
OMIM:616580 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Hyperactivity, Depressed nasal bridge, Congenital diaphragmatic ... |
ORPHA:468678 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Gait ataxia, Clinodactyly of the 5th finger, Hepatomegaly, Depressed nasal bridge,... |
OMIM:280000 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Recurrent bacterial skin infections, Scarring, ... |
ORPHA:79277 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... |
OMIM:615633 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Recurrent bacterial skin infections, Erythrodontia, Scarring, Scarring alopecia... |
ORPHA:95159 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Thick eyebrow, Telecanthus, Symblepharon, Short neck, Broad nasal tip, Thickened cortex of long b... |
ORPHA:488434 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Tapered finger, Precocious puberty, Brachycephaly, Plagiocephaly, S... |
ORPHA:261652 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Prominent metopic ridge, Unilateral cryptorchidism, Brachycephaly, Plagiocephaly, Upslanted palpe... |
OMIM:618862 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Choanal stenosis, Shallow ... |
ORPHA:798 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Plagiocephaly, Slender long bone, Decreased calvarial ... |
OMIM:618265 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislocation, Pect... |
ORPHA:536467 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ptosis, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing r... |
ORPHA:1647 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Pectus excavatum, Kyphosis, Bilateral cryptorchidism, Flexion contracture, Synop... |
ORPHA:3042 |
Adnp Syndrome |
|
Oral-pharyngeal dysphagia, Abnormal finger morphology, Brachycephaly, Compulsive behaviors, Advan... |
ORPHA:404448 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hypospadias, Cryptorchidism, Brachycephaly, Abnormal shape of the occiput, Malar... |
OMIM:218350 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,... |
OMIM:139210 |
Marshall Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Sparse eyelashes, Micrognathia, Hypopl... |
ORPHA:560 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Hep... |
OMIM:269860 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Brachycephaly, ... |
ORPHA:1173 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Hypoplasia of penis, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Br... |
ORPHA:66625 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Un... |
OMIM:616300 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... |
OMIM:617718 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dystonia, Dysphagia |
OMIM:304700 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... |
OMIM:134780 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Pectus carinatum, Thick nasal sep... |
OMIM:303600 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Anterior rib cupping, Mic... |
OMIM:211350 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Flat occiput, Femoral hernia, Anteverted nares, Highly arched eyebrow, Hypoplasi... |
ORPHA:96147 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Turricephaly, Abnormal scapula morphology, Iliac crest serration, Metaphyseal c... |
ORPHA:93317 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Pustule, Splenomegaly, Fused cervical verte... |
OMIM:612852 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Proximal placement of thumb, Brachycephaly, Dysmetria, Hypothyroidism... |
ORPHA:456312 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Craniosynostosis, Brachycephaly, Abnormal morphology of femal... |
ORPHA:1790 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Hooded eyelid, Anterior pituitary hypoplasia, Mic... |
OMIM:619841 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bow... |
OMIM:264700 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Hypospadias, Shawl scrotu... |
OMIM:617053 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Sacral dimple, Epicanthus, Depressed nasal bridge, Hypogonadotropic hypogonadis... |
ORPHA:251066 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Flat occiput, Micrognathia, Periodontitis, Compulsive... |
ORPHA:534 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Muenke Syndrome |
|
Tarsal synostosis, Brachycephaly, Cone-shaped epiphysis, Short foot, Plagiocephaly, Short palm, C... |
ORPHA:53271 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Pectus excavatum, Retrognathia, Plagiocephaly, Fused cervical vertebr... |
OMIM:619227 |
Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Turricephaly, Wormian bones, Craniosynostosis, Supernumera... |
OMIM:604757 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Attention ... |
ORPHA:216866 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Palpebral edema, Micromelia, Short iliac bones, Hypoplastic ischia, Sh... |
ORPHA:3003 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Malformed lacrimal duct, Cutaneous finger syndac... |
OMIM:219000 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Eczema, Microcytic anemia, Brachycephaly, Dysphagia |
OMIM:612379 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... |
OMIM:600002 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... |
ORPHA:85167 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Clinodactyly, Cryptorchidism, S... |
ORPHA:1724 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Brachycephaly, Wide nasal bridge, Up... |
OMIM:613456 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B... |
ORPHA:163934 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia |
OMIM:602196 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Inguinal hernia, Brachycephaly, Hydrocele testis |
ORPHA:85290 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Hypogonadism, Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosynostosis, U... |
ORPHA:2095 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Ptosis, Broad eyebrow, Pericarditis, Depressed nasal bridge, Delayed crani... |
OMIM:601088 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Frontal bossing, Abnormal rib morphology |
ORPHA:1506 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Prominent nose, Brachycephaly, Depressed nasal bridge, Thoracolumbar ... |
ORPHA:480880 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, B... |
OMIM:300373 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism... |
OMIM:300219 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Supernumerary nipple, Aggressive behavior, Synophrys, Brachycephaly, Upslanted palpebral fissure,... |
OMIM:616083 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Recurrent upper respiratory tract infections, Gait ataxia, Bradykinesia... |
ORPHA:225147 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Trichothiodystrophy |
|
Joint dislocation, Congenital exfoliative erythroderma, Multiple joint contractures, Gait ataxia,... |
ORPHA:33364 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis... |
OMIM:304050 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Brac... |
OMIM:614225 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Inguinal hernia, Thickened ribs, Wide nose, Camptodactyly of finger, Diaphyseal thi... |
ORPHA:217085 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Ataxia, Scarring, Foot joint contracture, Delayed eruption o... |
ORPHA:90321 |
Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... |
ORPHA:436 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short neck, Short metatarsal, Brachycephaly, Short metacarpal, Anteverted nares, Depressed nasal ... |
OMIM:617157 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Abnormal repetitive mannerisms, Accessory sp... |
OMIM:194190 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Inguinal hernia, Thickened ribs, Wide nose, Camptodactyly of finger, Diaphyseal thi... |
ORPHA:217093 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Ptosis, Short metacarpal, Long eyebrows, Pectus excavatum, Wide nasal brid... |
OMIM:201180 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Hypospadias, Micrognathia, Asplenia, Pulmonary lymphangiectasia, Brachycephaly, Post... |
OMIM:265380 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Esophagitis, Abnormal posturing, Anemia, Decreased cervical spine mob... |
ORPHA:71272 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Eyelid colobo... |
OMIM:268300 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Anterior rib cupping, Ovoid vertebral bodies,... |
OMIM:260400 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Ptosis, Prominent nasal bridge, Highly arched eyebrow, Female pse... |
ORPHA:1519 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Sandal gap, Prominent nasal bridge, Small hand, Brachycephaly, Pineal cyst, Short foot, Iron defi... |
OMIM:618885 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Prominent metopic ridge, Clitoral hypertrophy, Anteverted nares, Prominent nasal... |
OMIM:608688 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Kinsship Syndrome |
|
Mandibular prognathia, Short neck, Micrognathia, Synophrys, Abnormal repetitive mannerisms, Dislo... |
OMIM:619297 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Telecanthus, Anteverted nares, Prominent nasal bridge, Down-s... |
ORPHA:1974 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Ptosis |
OMIM:619972 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Anteverted nares, Rib fusion, Wide nasal bridge... |
OMIM:157800 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad clavicles, Pectu... |
OMIM:304150 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Zttk Syndrome |
|
Absent gallbladder, Frontal bossing, Epicanthus, Depressed nasal bridge, Craniosynostosis, Hypopl... |
OMIM:617140 |
Leukonychia Totalis |
|
Abnormal eyelash morphology, Adenoma sebaceum, Blepharitis, Type II diabetes mellitus |
ORPHA:2387 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathia, Coxa valg... |
ORPHA:263508 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Epicanthus, Short femur, Cryptorchidism, Unsteady gait, Brachycephaly, Genu valgum, Posterior pla... |
OMIM:617798 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, Micropenis, Retrog... |
ORPHA:456328 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow ch... |
OMIM:613803 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thickened calvaria, Metaphyseal dysplasia, Epicanthus, Anteverted nares, Dolichocephaly, Increase... |
OMIM:619727 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Thickened calvaria, Abnormal morphology of ... |
ORPHA:93 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Abnormal size of the palpebral fissures, Camptodactyly of... |
ORPHA:1101 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Proximal placement of thumb, Short neck, Prominent fing... |
OMIM:229850 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Frontal bossing, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ... |
OMIM:206900 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosyno... |
OMIM:614188 |
Trisomy 18 |
|
Omphalocele, Microretrognathia, Epicanthus, Camptodactyly of finger, Congenital diaphragmatic her... |
ORPHA:3380 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Wide cranial... |
ORPHA:289157 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Hemivertebrae, Depressed nasal ridge, Gonadotropin deficiency,... |
ORPHA:672 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Depressed nasal bridge, Anteverted nares, Brachycephaly, Horizontal eyebrow, Thick ... |
OMIM:618797 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thickened calvaria, Hepatomegaly, Pancytopenia, Persistence of primary teeth, Pectus excavatum, M... |
ORPHA:2785 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Epicanthus, Lumbar hyperlordosis, Telecanthus, Short neck, Inability to walk... |
ORPHA:505248 |
Coccidioidomycosis |
|
Abnormality of the spleen, Broad skull, Abnormal long bone morphology, Abnormality of the liver, ... |
ORPHA:228123 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Telecanthus, Broad proximal phalanges of the hand, Choanal atresia, Depressed na... |
OMIM:607597 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Long toe, Inguinal hernia, Epicanthus, Overlapping toe, Anteverted nares, Depressed ... |
ORPHA:254528 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Inguinal hernia, Congenital hip dislocation, Depressed nasal bridge, Arachnoda... |
OMIM:225400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Hyp... |
ORPHA:465508 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Congenital diaphragmatic hernia, Clino... |
OMIM:601163 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Epicanthus, Toe syndactyly, Small scrotum, Anterior pituitary hypoplasia, Adre... |
ORPHA:264200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Telecanthus, Elbow contracture, Camptodactyly of finger, Short neck, Micrognathi... |
OMIM:208150 |
Menkes Disease |
|
Metaphyseal spurs, Metaphyseal widening, Brachycephaly, Death in childhood, Wormian bones |
OMIM:309400 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Frontal bossing, Depressed nasal bridge, Hepatocellular carcinoma, Long n... |
OMIM:118450 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... |
OMIM:244460 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Horizontal inferi... |
OMIM:102700 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Peters Plus Syndrome |
|
Micromelia, Short neck, Micrognathia, Brachycephaly, Clitoral hypoplasia, Clinodactyly of the 5th... |
ORPHA:709 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Epicanthus, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polyd... |
OMIM:605627 |
Chime Syndrome |
|
Epicanthus, Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the ha... |
ORPHA:3474 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, Brachycephaly, Pectus carinatum, Hypothyroidism, Microretrognath... |
OMIM:619472 |
Kindler Epidermolysis Bullosa |
|
Flexion contracture, Inflammation of the large intestine, Colitis, Conjunctivitis, Periodontitis,... |
ORPHA:2908 |
Gracile Bone Dysplasia |
|
Death in infancy, Asplenia, Flared metaphysis, Thin ribs, Micropenis, Slender long bone, Hypoplas... |
OMIM:602361 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 3rd finger, Ataxia, Pancreatic fibrosis, ... |
OMIM:616263 |
Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Compulsive behaviors, C... |
ORPHA:138 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morpho... |
ORPHA:2519 |
Autosomal Dominant Centronuclear Myopathy |
|
Miscarriage, Cryptorchidism, Thin ribs, Difficulty walking, Ptosis |
ORPHA:169189 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of... |
OMIM:101400 |
Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Brachycephaly, Hip dysplasia, Attention deficit hyperactivity disorder, P... |
OMIM:618798 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Stillbirth |
OMIM:152800 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Long thorax, Conjunctivitis, Narrow chest, Chron... |
OMIM:616268 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, Clitoral hypoplasia, Cl... |
ORPHA:2554 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Inguinal hernia, Epicanthus, Depressed nasal bridge, Micrognathia, Cryptor... |
ORPHA:85276 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Diabetes insipidus, Megaloblastic anemia, Tremor... |
OMIM:222300 |
Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Myeloproliferative disorder, Uveitis |
ORPHA:158000 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Capitate-hamate fusion, Postaxial hand polyd... |
OMIM:225500 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia,... |
OMIM:216340 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Increased connective tissue, Abnormal thorax morphology, Flexion contracture, Thin r... |
ORPHA:171430 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Down Syndrome |
|
Epicanthus, Sandal gap, Hypoplastic iliac wing, Hypothyroidism, Atlantoaxial instability, Brachyc... |
OMIM:190685 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Abnormality ... |
ORPHA:2988 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Maculopapular exanthema, Scarring, Kyphoscoliosis, Eosinophilia, Kerat... |
OMIM:308300 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Synophrys, Wide penis, Hypoplastic... |
ORPHA:3455 |
Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoosp... |
OMIM:235200 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Epicanthus, Depressed nasal bridge, Postaxial polydactyly, Splenomegaly, Supernumer... |
OMIM:617088 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
OMIM:214800 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Vici Syndrome |
|
Wide nose, Epicanthus, Depressed nasal bridge, Micrognathia, Neutropenia, Chronic mucocutaneous c... |
OMIM:242840 |
Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
Aica-Ribosiduria |
|
Fused labia minora, Brachycephaly, Clitoral hypertrophy |
ORPHA:250977 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Tip-toe gait, Spastic gait |
OMIM:617296 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Ataxia, Infertility, Testicular atrophy |
OMIM:613909 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Erythrodontia, Absent eyebrow, Splenomegaly, Jaundice, Loss of ey... |
OMIM:263700 |
Restrictive Dermopathy |
|
Multiple joint contractures, Micrognathia, Aplasia/Hypoplasia involving the nose, Hypospadias, Sp... |
ORPHA:1662 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl... |
OMIM:184705 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Eczema, Abnormal preputium morphology, ... |
ORPHA:2907 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Wide nasal bridge... |
OMIM:601186 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenor... |
OMIM:157640 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus defo... |
ORPHA:521445 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... |
OMIM:208500 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly, Micrognathia |
OMIM:100700 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Rec... |
ORPHA:32960 |
Xylt1-Cdg |
|
Joint dislocation, Hepatomegaly, Acne, Coxa valga, Synophrys, Flared metaphysis, Short long bone,... |
ORPHA:370930 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Vater/Vacterl Association |
|
Syndactyly, Abnormal nasopharynx morphology, Hypospadias, Choanal atresia, Absent radius, Short t... |
OMIM:192350 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Humeroradial Synostosis |
|
Brachycephaly, Humeroradial synostosis, Wide nasal bridge |
OMIM:236400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, Cr... |
OMIM:308750 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Craniosynostosis, Tremor, Sple... |
ORPHA:667 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Prominent nose, Microcytic anemia, Adipose tissue loss, Flexion contracture, Elevated circulating... |
OMIM:256040 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Limbal dermoi... |
ORPHA:857 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Absent gallbladder, Lumbar hyperlordosis, Depressed nas... |
ORPHA:500150 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Depressed nasal bridge, Cortical subperiosteal resorption of humeral m... |
ORPHA:94089 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Micrognathia, Kyphosis, Conjunctivitis, Cellulitis, Distichiasis, Ptosis |
OMIM:153400 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Lesch-Nyhan Syndrome |
|
Dystonia, Megaloblastic anemia, Hip dislocation, Opisthotonus, Choreoathetosis, Self-injurious be... |
OMIM:300322 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Death in infancy, Congenital diaphragmatic hernia, Abn... |
ORPHA:991 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Lethargy, Thrombocytopenia, Thin ribs |
OMIM:617397 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Bulbous nose, Brachycephaly, Rectovaginal fistula, Bifid nose, Thick eyebrow |
OMIM:608980 |
Listeriosis |
|
Back pain, Liver abscess, Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encep... |
ORPHA:533 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Adrenal hypoplasia, Micrognathia, Brachycephaly, Clinodactyly of the 5th finger, A... |
OMIM:607932 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered fing... |
OMIM:615560 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Prominent nose, Asplenia, Thrombocytopenia, Hypoplastic spleen, A... |
OMIM:185070 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Umbilical hernia, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Sinusitis, Lipodystrophy, Skin rash, Thrombocytopenia, Splenomegaly, Flex... |
OMIM:617591 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Brachycephaly, Bronchiect... |
ORPHA:1572 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal reproductive system morphology, Abnormality of the spleen, A... |
ORPHA:1666 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Cardiac Diverticulum |
|
Omphalocele, Umbilical hernia, Endocarditis, Aplasia/Hypoplasia of the sternum |
ORPHA:1686 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Hepatomegaly, Death in infancy, Femur fracture, Splenomegaly, Recurrent p... |
OMIM:612301 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Epistaxis, Abnormal posturing |
ORPHA:268943 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia |
ORPHA:63260 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |