Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... |
OMIM:144300 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Li... |
OMIM:265900 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad s... |
OMIM:277600 |
Ck Syndrome |
|
Prominent nasal bridge, Hyperlordosis, Microcephaly, Kyphosis, Micrognathia, Retrognathia, Scolio... |
OMIM:300831 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Concave nasal ridge, Dolichocephaly, Wormian bones, Pathologic frac... |
ORPHA:166277 |
Codas Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, ... |
OMIM:600373 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Achard Syndrome |
|
Joint laxity, Broad skull, Brachycephaly, Micrognathia |
OMIM:100700 |
Grant Syndrome |
|
Joint dislocation, Frontal bossing, Depressed nasal bridge, Micrognathia, Large fontanelles, Brac... |
ORPHA:2097 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex... |
ORPHA:53697 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones |
ORPHA:2787 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den... |
ORPHA:970 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor... |
OMIM:277950 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... |
OMIM:271530 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Increased bone mineral density, Anteverted nares, Ovoid vertebral bodies, Depres... |
ORPHA:163649 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad s... |
OMIM:608328 |
Hall-Riggs Syndrome |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Prominent nose, Kyphosis, Osteoporosis, I... |
OMIM:234250 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, ... |
ORPHA:40 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Proteus Syndrome |
|
Depressed nasal bridge, Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal steno... |
OMIM:176920 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Depressed nasal bridge, Kyphosis, Congenital bilateral hip dislocation... |
ORPHA:85288 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... |
OMIM:619795 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Joint s... |
ORPHA:2635 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Progressive joint ... |
ORPHA:564003 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... |
OMIM:613849 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Thor... |
OMIM:313420 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Wormian bones, Recurrent fractures, Severe generalized osteoporosis, Protrusio a... |
OMIM:259420 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Short neck, Microcephaly, Micrognathia, Large fontanelles, Depressed nasal ridg... |
ORPHA:1832 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical... |
ORPHA:1802 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Potocki-Shaffer syndrome |
|
Parietal foramina, Delayed cranial suture closure |
DECIPHER:34 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... |
OMIM:618392 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior... |
ORPHA:85184 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Abn... |
ORPHA:3152 |
Hao-Fountain Syndrome |
|
Trigonocephaly, Premature adrenarche, Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Increased bone mineral density, Persistent open anterior fontanelle, Wormian... |
ORPHA:1798 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Kyphosis, Abnormality ... |
ORPHA:2114 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Brachycephaly... |
OMIM:610968 |
Pycnodysostosis |
|
Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle, Delayed eru... |
OMIM:265800 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Frontal bossing, Turricephaly, Wide cranial sutures, Microretrognathia, Recurrent fra... |
OMIM:616294 |
Parastremmatic Dwarfism |
|
Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Recurrent fractures, Micrognathia, Dentinogenesis imperfecta, Verteb... |
OMIM:112240 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small for gestational age, Metopic suture patent to nasal root, Premature posterior fontanelle cl... |
ORPHA:3369 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Microcephaly, Prominent... |
OMIM:614886 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Relative macrocephaly, Delayed eruption of teeth, Increased body mass index, Congenital hip dislo... |
OMIM:614450 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal occipital bone mo... |
ORPHA:73 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fr... |
OMIM:277440 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphys... |
OMIM:118650 |
Coccidioidomycosis |
|
Osteomyelitis, Abscess, Eosinophilia, Abnormality of the endocrine system, Broad skull, Abnormali... |
ORPHA:228123 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Convex nasal ridge, Limited elbow movement, Joint stiffn... |
OMIM:614008 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Parietal foramina, ... |
OMIM:616602 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Metatarsal osteolysis, Campto... |
OMIM:259600 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormality of the e... |
ORPHA:1486 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Depressed nasal bridge, Microcephaly, Kyphosis, Hip dislocation, Scoliosis |
OMIM:300434 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Increased bone mineral density, Flat occiput, Hyperlo... |
ORPHA:2780 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Small for gestational age, Micr... |
OMIM:614541 |
Summitt Syndrome |
|
Prominent metopic ridge, Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ri... |
ORPHA:3210 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Micrognathia, Wide nasal bridge, Biconcave v... |
OMIM:617952 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Microcephaly |
ORPHA:2204 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... |
OMIM:277460 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Carious teeth, Wide anterior fontanel, Genu valgu... |
OMIM:269300 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fr... |
OMIM:264700 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Sco... |
ORPHA:48431 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Trigonocephaly, Dolichocephaly, Scaphocephaly, Wide nasal brid... |
OMIM:175700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Wide cranial... |
ORPHA:289157 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Choanal atresia, Microcephaly, Underdeveloped nasal alae... |
ORPHA:163979 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... |
OMIM:616267 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... |
ORPHA:2771 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ... |
OMIM:166220 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Short neck, Kyphosis, S... |
ORPHA:61 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Microcephaly, Micrognathia, Kyphosis, Carious teeth, Reduced bone mineral density, Vertebral segm... |
ORPHA:2617 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Anisospondyly, Micrognathi... |
ORPHA:2484 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Sacral dimple, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for... |
OMIM:618272 |
Clark-Baraitser syndrome |
|
Joint laxity, Frontal bossing, Genu recurvatum, Anteverted nares, Broad nasal tip, Kyphosis, Obes... |
OMIM:300602 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... |
OMIM:208920 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Diastrophic Dysplasia |
|
Joint dislocation, Increased bone mineral density, Depressed nasal bridge, Camptodactyly of finge... |
ORPHA:628 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Large fontanelles, Arthritis, Joint swe... |
ORPHA:1525 |
Flynn-Aird Syndrome |
|
Cachexia, Joint stiffness, Abnormality of the thyroid gland, Kyphosis, Carious teeth, Bone cyst, ... |
ORPHA:2047 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Wormian bones, Craniosynostosis, Unicoronal synostosis, Supernumer... |
OMIM:604757 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Wide nose, Anteverted nares, Depressed nasal bridge, Small for gestational age, ... |
OMIM:613320 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog... |
OMIM:231070 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Depressed nasal bridge, Microcephaly, Short neck, Wide anterior fontanel... |
ORPHA:3098 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Microcephaly, Kyphosis, Scoliosis, Delayed puberty, Short nose, Anemia |
ORPHA:2598 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis, Calvarial hyperostosis |
OMIM:112350 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Kyphosis, Truncal obesity, Scoliosis, Macrocephaly, Short nose |
ORPHA:2429 |
Potocki-Shaffer Syndrome |
|
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Brachycephaly, Wide nasal bridge, Wor... |
OMIM:601224 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Microcephaly, Multiple prenatal fractures, Decreased calvarial ossification, Bowin... |
OMIM:259410 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Flat occiput, Microcephaly, Hyperlordosis, Large font... |
ORPHA:2511 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Calvarial osteosclerosis, Mandibular pain, Abnormality of the vertebr... |
OMIM:607634 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fractures, Delayed epiphyseal... |
OMIM:600081 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Anteverted nares, Small for gestational age, Microcephaly, Micrognathia, Kyp... |
ORPHA:352490 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fractures, Decreased circulat... |
OMIM:241530 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Kyphosis, Supernumerary tooth, Ag... |
OMIM:619718 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitar... |
OMIM:613038 |
Achondroplasia |
|
Frontal bossing, Short nasal bridge, Lumbar hyperlordosis, Anteverted nares, Depressed nasal brid... |
ORPHA:15 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O... |
OMIM:614856 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Small for gestational age, Microce... |
OMIM:615834 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Frontal bossing, Wide nose, Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Depre... |
ORPHA:137834 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Microcephaly, Kyphosis, Hip dislocation, Obesity, Scoliosis |
OMIM:616756 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... |
ORPHA:95717 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones, Platyspondyly, Thoracic kyphosis, Thin bony cortex |
OMIM:619638 |
Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Depressed nasal bridge, Kyphoscoliosis, Abnormal enchond... |
OMIM:156530 |
Trigonocephaly 1 |
|
Craniosynostosis, Microcephaly, Wide nasal bridge, Lumbar hemivertebrae, Metopic synostosis, Trig... |
OMIM:190440 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Delay... |
ORPHA:79106 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... |
ORPHA:536516 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Anteverted nares, Decreased response to growth hormone stimulation test, Craniosyno... |
OMIM:601853 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, EEG abnormality, Hypercholesterolemia, Hearing impairment |
OMIM:182290 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis, Prominent nasal... |
ORPHA:3409 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Elevat... |
OMIM:600785 |
Desbuquois Dysplasia 1 |
|
Joint laxity, Joint dislocation, Microretrognathia, Depressed nasal bridge, Phalangeal dislocatio... |
OMIM:251450 |
Bethlem Myopathy 2 |
|
Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Delayed epiphyseal ossification, Generalized joint laxity, Multiple joint dislocation, Abnormal c... |
ORPHA:93360 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill... |
OMIM:601812 |
Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Short neck, Kyphosis, Wide nasal bridge, Camptodactyly, Arthrogryposis multiplex co... |
OMIM:618393 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Depressed nasal bridge, Kyphosis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers... |
OMIM:609128 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Microcephaly, Bulbou... |
OMIM:612940 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Anteverted nares, Abnormal dental enamel morphology, Short neck, Hyperlordosis... |
ORPHA:582 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Wormian bones, Recurrent fractures, Multiple prenatal fractures, Wide a... |
OMIM:610915 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Anteverted nares, Small for gestational age, Microcephaly, Multiple... |
OMIM:616897 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Microcephaly, Carious teeth, Cortical thickening of long bone diaphyses, Congenital hypoparathyro... |
ORPHA:93324 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Action tremor |
ORPHA:77296 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Spina bifida occulta, Decreased skull ossific... |
ORPHA:1452 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Frontal bossing, Prominent metopic ridge, Mandibular prognathia, Microcephaly, Doli... |
OMIM:619721 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Lowry-Maclean Syndrome |
|
Osteopenia, Short nasal bridge, Choanal atresia, Craniosynostosis, Microcephaly, Micrognathia, Hy... |
ORPHA:2409 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis |
OMIM:618234 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... |
OMIM:113000 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Small for gestational age, Recurrent fractures, Decreased calvaria... |
OMIM:616229 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short ... |
OMIM:253000 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis, Failure to thrive, Macrocephaly |
ORPHA:796 |
Borjeson-Forssman-Lehmann Syndrome |
|
Microcephaly, Kyphosis, Obesity, Scoliosis, Delayed puberty, Thickened calvaria, Scheuermann-like... |
OMIM:301900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
Fibrous Dysplasia Of Bone |
|
Abnormal occipital bone morphology, Thyroid carcinoma, Patchy reduction of bone mineral density, ... |
ORPHA:249 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Prominent nose, Elbow dislocation, Kyphosis, Long nos... |
ORPHA:2769 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Elbow flexion contractu... |
ORPHA:75840 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Ma... |
OMIM:300676 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Mandibular prognathia, Wide nose, Anteverted nares, Scoliosis, Macrocep... |
OMIM:616260 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Anteverted nares, Depressed nasal bridge, Hyperlordosis, Micrognathia, Kyphosis, B... |
OMIM:615761 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Frontal bossing, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased ... |
ORPHA:2788 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Microcephaly, Kyphosis, Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, ... |
OMIM:611890 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Recurrent fractures, Multiple prenatal fractures, Absent ossification ... |
OMIM:166210 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Microcephaly, Brachycephaly, Lambdoidal... |
OMIM:618736 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Anteverted nares, Camptodactyly of finger, Recurrent fractures, Cr... |
ORPHA:83 |
Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abn... |
ORPHA:3344 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Recurrent fractures, Abnormal dental en... |
ORPHA:2050 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology, Microcephaly |
ORPHA:2512 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Large posterior fontanelle, Depressed nasal bridge, Thyroid ... |
ORPHA:95716 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Premature thelarche, Sclerotic cranial sutures, Osteolysis involving bon... |
ORPHA:371428 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, Plagiocep... |
OMIM:617808 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Leptin Deficiency Or Dysfunction |
|
Recurrent upper respiratory tract infections, Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Mcdonough Syndrome |
|
Mandibular prognathia, Cachexia, Prominent nose, Micrognathia, Kyphosis, Underdeveloped nasal ala... |
ORPHA:2471 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Prominent nose, Ky... |
OMIM:300280 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Microcephaly, Short neck, Hypoplasia of the odontoid proc... |
OMIM:607326 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, La... |
OMIM:600775 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Hypogonadism, Short nose, Spina ... |
ORPHA:2983 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Progressive microcephaly |
OMIM:620007 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Microcephaly, Kyphosis, Underdeveloped nasal alae, Depressed nasal ridge, Wide nasa... |
ORPHA:77300 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Joint hyperflexibility, Hypogonadism, Kyphosis |
ORPHA:1875 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Thickened calvaria, Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel... |
ORPHA:2658 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis, Thickened... |
OMIM:126550 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Posteriorly rotated ears |
OMIM:616222 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Anteverted nares, Delayed cranial suture closure, Anterior concavity of... |
OMIM:249420 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Microcephaly, Scoliosis |
OMIM:617404 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na... |
ORPHA:2863 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Depressed nasal bridge, Short neck, Microcephaly, Kyphosis, Hip dislocation, Bra... |
OMIM:608776 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Failure to thrive, Kyphosis, Microcephaly |
ORPHA:319199 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Sensorineural hearing impairment, ... |
ORPHA:79237 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Prominent nasal bridge, Short neck, Kyphosis, Flexion contracture, Scoliosis, Dolichocephaly, Art... |
ORPHA:178148 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Laryngotracheomalacia, Thoracic kyphosis, Neutropenia, Lumbar ... |
OMIM:271510 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Male hypogonadism, Joint cont... |
OMIM:615381 |
Ruvalcaba Syndrome |
|
Microcephaly, Underdeveloped nasal alae, Kyphosis, Scoliosis, Delayed puberty, Limited elbow exte... |
OMIM:180870 |
Masa Syndrome |
|
Kyphosis, Macrocephaly, Hyperlordosis, Microcephaly |
OMIM:303350 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Relative macrocephaly, Thoracic scoliosis, Micrognathia, Generalized jo... |
OMIM:613848 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... |
OMIM:619260 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Large font... |
OMIM:219150 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Microcephaly, Micrognathia, Kyphosis, Wide nasal bridge, Joint hyper... |
ORPHA:2479 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Large posterior fontanelle, Tarsal synostosis, Abnormal dental enamel morphology... |
ORPHA:85199 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Short neck, Hyperlordosis, Kyphosis, Microgna... |
ORPHA:2789 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Microcephaly, Micrognathia, Fused cervical vertebrae, Abnorm... |
ORPHA:2522 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility |
OMIM:619131 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anteverted nares, Recurrent fract... |
OMIM:309583 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Joint ... |
OMIM:253010 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Prominent nose, Flat ace... |
ORPHA:2976 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Abnormal acetabulum morphology, Limb joint contracture, Lumbar hyperlordo... |
ORPHA:93314 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Micrognathia, Kyphosis, F... |
OMIM:618291 |
Crisponi Syndrome |
|
Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture... |
ORPHA:1545 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Parietal bossing, Increased bone mineral densi... |
OMIM:119600 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Kyphoscoliosis, Microcephaly, Multiple prenatal fractures, Bulbous nose, B... |
OMIM:618644 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi... |
OMIM:619040 |
Six2-Related Frontonasal Dysplasia |
|
Frontal bossing, Depressed nasal bridge, Small for gestational age, Broad nasal tip, Abnormality ... |
ORPHA:488437 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Short neck, Micrognathia, Kyphosis, Obesity, Type II diabetes mellitus, Scolios... |
ORPHA:3191 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Frontal bossing, Failure to thrive in infancy, Kyphosis, Flexion contractu... |
OMIM:615547 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, EEG abnormality, Conductive hearing impairment, Hyperch... |
ORPHA:819 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture, Wide nasal bridge, Broad nasal tip |
OMIM:618658 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Large fontanelles, Brach... |
OMIM:603116 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Brachycephaly, Parietal bossing, Hyperlordosis, Supernumerary tooth, Scoliosis, Tra... |
OMIM:234100 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Frontal bossing, Thoracic scoliosis, Spinal rigidity, Micrognathia, Kyphosis, Ac... |
OMIM:620351 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Genu recurvatum, Ulnar deviation of th... |
OMIM:177170 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Microcephaly, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:816 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow nasal ridge, Micrognathia, Insulin-resistant diabetes mellitus, Flexion contracture, Hyper... |
OMIM:608612 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac j... |
ORPHA:2655 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Failure to thrive, Kyphoscoliosis, Microcephaly, Hip dislocation, Wide nasal bridge, ... |
OMIM:618005 |
Stickler Syndrome, Type I |
|
Arthropathy, Anteverted nares, Depressed nasal bridge, Joint stiffness, Micrognathia, Kyphosis, O... |
OMIM:108300 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Wide cranial sutures, Sacral dimple, Micrognathia, Hypoplasia of the ma... |
OMIM:601390 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion... |
ORPHA:666 |
Pelger-Huet Anomaly |
|
Frontal bossing, Depressed nasal bridge, Abnormality of neutrophils, Kyphosis, Hyposegmentation o... |
OMIM:169400 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Sea-blue h... |
OMIM:230600 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Decreased skull ossification, Anteverted nares, Dolichoceph... |
ORPHA:955 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Micrognathia, Thin calvarium, Short nose, Midface retrusion, Delayed cranial sut... |
ORPHA:1129 |
Marbach-Rustad Progeroid Syndrome |
|
Convex nasal ridge, Delayed eruption of primary teeth, Microcephaly, Micrognathia, Reduced bone m... |
OMIM:619322 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Anteverted nares, Craniosynostosis, Microcephaly, Precocious puberty, Short ... |
ORPHA:254346 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Frontal bossing, Delayed eruption of teeth, Natal tooth, Scle... |
OMIM:224300 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Wormian bones, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Sco... |
OMIM:130720 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Wide nose, Failure to thrive, Microcephaly, Joint stiffness, Short neck,... |
ORPHA:2995 |
Menkes Disease |
|
Joint laxity, Microcephaly, Osteoporosis, Brachycephaly, Wormian bones |
OMIM:309400 |
Kleefstra Syndrome 2 |
|
Microcephaly, Kyphosis, Plagiocephaly, Scoliosis, Midface retrusion |
OMIM:617768 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Frontal bossing, Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial... |
ORPHA:357058 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Platyspondyly, Macrocephaly |
OMIM:601356 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Macrocephaly, Dolichocephaly |
OMIM:618512 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Microcephaly, Kyphosis, B... |
ORPHA:261144 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Relative macrocephaly, Mandibular prognathia, Depressed nasal bridge, Kyphosis, Bul... |
OMIM:300354 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Dislocated radial head, Joint laxity, Anteverted nares, Ost... |
OMIM:102500 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Long nose, T lymphocytopeni... |
ORPHA:508533 |
Wieacker-Wolff Syndrome |
|
Anteverted nares, Microcephaly, Short neck, Hyperlordosis, Kyphosis, Micrognathia, Hip dislocatio... |
OMIM:314580 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Wide cranial sutures, Scaphocephaly, Dental malocclusion, Wide nasal bridge, Pla... |
OMIM:619149 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
3M Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Anteverted nares, Abnorma... |
ORPHA:2616 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti... |
OMIM:259100 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Failure to thrive, Flexion contracture |
OMIM:618237 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos... |
OMIM:618484 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Turricephaly, Abnormal dental enamel morphology, Microcephaly, Joint stiffness, Kyphosis, Promine... |
ORPHA:1005 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Anteverted nares, Microcephaly, Short neck, Kyphosis, Achille... |
OMIM:301041 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis, Dolichocephaly, Joint stiffness |
ORPHA:1548 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Flat occiput, Anteverted nares, Flexion contracture, Wide nasal bridge, Plag... |
OMIM:619383 |
Sialidosis Type 2 |
|
Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Shashi-Pena Syndrome |
|
Broad nasal tip, Kyphosis, Osteoporosis, Scoliosis, Macrocephaly, Cervical C2/C3 vertebral fusion... |
OMIM:617190 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Frontal bossing, Joint laxity, Delayed eruption of teeth, Anteverted nares, Prominent... |
OMIM:607812 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Narrow nasal bridge, Anteverted nares, Camptodactyly of finger, Abnormal d... |
ORPHA:2710 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Abnormal dental enamel morphology, Elbow dislocation, Ky... |
ORPHA:2916 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Metopic depression, Hepatosp... |
ORPHA:313855 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Convex nasal ridge, Narrow nasal ridge, Joint stiffness, Micrognathia, Insulin-resist... |
OMIM:248370 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Os odontoideum, Microcephaly, Hip dislocation, Wormian bones, Delayed c... |
OMIM:616603 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Micrognathia, Hypoplasia of the... |
OMIM:257850 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Sacral dimple, Recurrent fractures, Camptodactyly of f... |
ORPHA:3206 |
Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi... |
ORPHA:2796 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Kyphosis, Dental malocclusion, Scoliosis |
ORPHA:1858 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia |
OMIM:617885 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Protrusio acetabuli, Multiple prenatal fra... |
OMIM:610682 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Wide cranial sutures, Sacral dimple, Depressed nasal bridge, Micrognath... |
OMIM:615546 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Parietal Foramina 1 |
|
Parietal foramina, Wormian bones, Macrocephaly |
OMIM:168500 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Ch... |
OMIM:101200 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis... |
ORPHA:794 |
Faciocardiomelic Syndrome |
|
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Large for gesta... |
OMIM:612731 |
Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Mandibular prognathia, Lumbar hyperlordosis, Microcephaly, Multicent... |
OMIM:223800 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Short neck, Broad nasal tip, Hypoplasia... |
OMIM:300232 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Depressed nasal bridge, Camptodactyly of finger, Joint hypermobility, Micrognathia, Prominent nas... |
OMIM:619951 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Hyperparathyroidism, Anteverted nares, Recurre... |
OMIM:618188 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Relative macrocephaly, Increased bone mineral density, Recurrent fractures, Ankylosis... |
OMIM:239000 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Ectopic posterior pituitary, Decreased response to growth hormone sti... |
ORPHA:226307 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Prom... |
ORPHA:94065 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Frontal bossing, Cachexia, Hyperlordosis, Carious teeth, Kyphosis, Spl... |
ORPHA:1328 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Genu recurvatum, Kyphosis, Brachycephaly, Scoliosis, Macroce... |
ORPHA:364028 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Joint stiffness, Wide anterior fontane... |
ORPHA:1860 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Inc... |
ORPHA:79474 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Trisomy 20P |
|
Frontal bossing, Anteverted nares, Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, B... |
ORPHA:261318 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Camptodactyly of finger, Joint st... |
ORPHA:354 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae |
OMIM:230650 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Microcephaly, Puberty and gonadal disorders, Kyphosis, Hip dislocation, Obesity, Scoliosis |
ORPHA:464282 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Prominent nasal bridge, ... |
ORPHA:2332 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Bipartite patel... |
ORPHA:85188 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis |
ORPHA:2181 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Osteoarthritis, Fasting hy... |
ORPHA:2298 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... |
ORPHA:2062 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Frontal bossing, Failure to thrive, Depressed nasal bridge, Micrognathia, Splenomegal... |
OMIM:261515 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Cachexia, Microcephaly, Short neck, Kyphosis, Prominent nose, Obesity, J... |
ORPHA:85293 |
Silver-Russell Syndrome 1 |
|
Frontal bossing, Small for gestational age, Decreased response to growth hormone stimulation test... |
OMIM:180860 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis... |
ORPHA:77259 |
Mandibuloacral Dysplasia |
|
Narrow nose, Micrognathia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypoplasia of t... |
ORPHA:2457 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Anteverted nares, Camptodactyly of finger, Depressed nas... |
ORPHA:2311 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Ruvalcaba Syndrome |
|
Microcephaly, Kyphosis, Abnormality of the elbow, Scoliosis, Delayed puberty, Abnormal vertebral ... |
ORPHA:3121 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
OMIM:300554 |
Schwartz-Jampel Syndrome |
|
Short neck, Micrognathia, Wrist flexion contracture, Increased bone mineral density, Abnormally o... |
ORPHA:800 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Decreased skull ossification, Cortical thickening of... |
ORPHA:93325 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Microcephaly, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Bu... |
OMIM:618476 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Short neck, Kyphosis, Large fontanelles, Scoliosis |
ORPHA:238750 |
Hurler Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Joint stiffness, Short neck, Hypoplasi... |
OMIM:607014 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Relative macrocephaly, Frontal bossing, Joint dislocation, Depressed nasal bridge, Thoracolumbar ... |
OMIM:618019 |
Thanatophoric Dysplasia Type 2 |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Kyphosis, Limitation of joint mobility... |
ORPHA:93274 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Thoracic kyphosis, Choanal stenosis, Decr... |
OMIM:602535 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... |
ORPHA:99027 |
Marden-Walker Syndrome |
|
Anteverted nares, Microcephaly, Short neck, Wide anterior fontanel, Kyphosis, Micrognathia, Radio... |
OMIM:248700 |
Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Joint hyper... |
OMIM:278250 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Large posterior fontanelle, Failure to thrive, Depre... |
ORPHA:90674 |
Marinesco-Sjogren Syndrome |
|
Hypergonadotropic hypogonadism, Microcephaly, Kyphosis, Flexion contracture, Scoliosis, Cubitus v... |
OMIM:248800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Scoliosis |
OMIM:300861 |
Silver-Russell Syndrome |
|
Relative macrocephaly, Failure to thrive in infancy, Cachexia, Micrognathia, Precocious puberty, ... |
ORPHA:813 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Zimmermann-Laband Syndrome 2 |
|
Underdeveloped nasal alae, Bifid nasal tip, Kyphosis, Short neck, Prominent nasal septum |
OMIM:616455 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity, Type II diabe... |
ORPHA:3085 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Prominent nasal bridge, Craniosynostosis, Microcephaly, Broad nasal tip, Kyphosis, Contracture of... |
OMIM:618050 |
Typical Nemaline Myopathy |
|
Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocation, Micro... |
ORPHA:171436 |
Fibrochondrogenesis 1 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Short neck, Wide anterior fontanel, Wi... |
OMIM:228520 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Depressed nasal bridge, Recurrent fractures, Short neck, Micr... |
ORPHA:140 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Prader-Willi Syndrome |
|
Osteopenia, Narrow nasal bridge, Hypogonadotropic hypogonadism, Decreased response to growth horm... |
OMIM:176270 |
Trisomy 9P |
|
Sacral dimple, Short neck, Microcephaly, Kyphosis, Abnormal nasal morphology, Brachycephaly, Impa... |
ORPHA:236 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Flat occiput, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Mic... |
ORPHA:2232 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2962 |
Distal Triplication 15Q |
|
Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion contracture, Scolios... |
ORPHA:314588 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... |
OMIM:617237 |
Hypomelanosis Of Ito |
|
Kyphosis, Macrocephaly, Scoliosis, Microcephaly |
OMIM:300337 |
Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Underdeveloped nasal alae, Short columella, Scoliosis, Enlarg... |
ORPHA:276432 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Progressive neurologic deterioration, Abnormal retinal vascular morphol... |
ORPHA:247691 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Neuhauser Syndrome |
|
Large fleshy ears, Hypercholesterolemia, Cupped ear |
OMIM:249310 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Harrod Syndrome |
|
Microcephaly, Long nose, Kyphosis, Dental malocclusion, Joint hyperflexibility, Scoliosis, Failur... |
ORPHA:2115 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
3C Syndrome |
|
Frontal bossing, Depressed nasal bridge, Adrenal hypoplasia, Short neck, Micrognathia, Kyphosis, ... |
ORPHA:7 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
Emanuel Syndrome |
|
Broad jaw, Sacral dimple, Congenital hip dislocation, Delayed eruption of primary teeth, Microcep... |
OMIM:609029 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Joint stiffness, Kyphosis, Genu valgum, Scoliosis |
OMIM:252605 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Prominent nasal bridge, Craniosynostosis, Narrow nasal r... |
OMIM:616914 |
Hennekam-Beemer Syndrome |
|
Wide nose, Camptodactyly of finger, Micrognathia, Microcephaly, Long nose, Wide nasal bridge, Sco... |
ORPHA:2135 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Macrocepha... |
ORPHA:3219 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, Reduced bone mi... |
OMIM:616507 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Mucopolysaccharidosis Type 6 |
|
Failure to thrive, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly, R... |
ORPHA:583 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat... |
OMIM:617821 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Abnormal dental enamel morphology, Prominent nasal bridge, Microcephaly, Underd... |
ORPHA:96169 |
Baralle-Macken Syndrome |
|
Kyphosis, Obesity, Microcephaly |
OMIM:619255 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Prominent metopic ... |
OMIM:614188 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Wide nose, Anteverted nare... |
ORPHA:192 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Cohen Syndrome |
|
Failure to thrive in infancy, Prominent nasal bridge, Microcephaly, Micrognathia, Kyphosis, Hypop... |
ORPHA:193 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Abdominal o... |
OMIM:219090 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Decreased serum leptin, Micrognathia, Microcephaly, Underdeveloped nasal ala... |
OMIM:614098 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Depressed nasal bridge, Microcephaly, Kyphosis, Elbow fle... |
OMIM:618493 |
Mgat2-Cdg |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocr... |
ORPHA:79329 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Failure to thrive, Camptodactyly of finger, Prominent nasal bridge, Micr... |
ORPHA:261349 |
Gapo Syndrome |
|
Frontal bossing, Anteverted nares, Delayed cranial suture closure, Delayed closure of the anterio... |
OMIM:230740 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Tremor, Optic atrophy, Pigmentary retinopathy, Increased blo... |
ORPHA:90321 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Joint stiffness, Carious teeth, Splenomegaly, Wide nasal bridge, Arthritis... |
ORPHA:93 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Frontal bossing, Narrow nasal bridge, Micrognathia, Short neck, Kyphosis |
ORPHA:3082 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Anteverted nares, Thoracolumbar scoliosis, Prominent nasal bridge, Hyperlordosis, Microcephaly, K... |
OMIM:618443 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Micrognathia, Narrow nasa... |
ORPHA:280365 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Prominent nasal bridge, Kyphosis, Abnormal mand... |
ORPHA:2215 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Decreased hemoglobin concentration, Anteverted nares, Depressed nasal bridge, Mi... |
OMIM:619005 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Diabetes mellitus, Sacral dimple, Phalangeal d... |
ORPHA:536532 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Midface retrusion, Abnormal nasopharynx morphology, Increased density of... |
OMIM:269150 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Nar... |
ORPHA:740 |
White-Sutton Syndrome |
|
Joint laxity, Mandibular prognathia, Depressed nasal bridge, Short neck, Microcephaly, Micrognath... |
OMIM:616364 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Genu recurvatum, Kyphosis, Scoliosis |
OMIM:609008 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... |
OMIM:313400 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Kyphosis, Brachycephaly, Dolichocephaly |
OMIM:615433 |
Dent Disease 1 |
|
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
OMIM:300009 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Kyphosis, Bulbous nose, Wide nasal bridge, Sc... |
OMIM:617061 |
15Q14 Microdeletion Syndrome |
|
Prominent nasal bridge, Microcephaly, Kyphosis, Biparietal narrowing, Scoliosis, Convex nasal ridge |
ORPHA:261190 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Narrow nasal bridge, Premature pubarche, Precocious puberty, Kyphosis, Flexion contra... |
ORPHA:398069 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Brain abscess, Lumbar hyperlordosis, Depressed nasal bridge, Wide anterior fonta... |
OMIM:616482 |
Rett Syndrome |
|
Scoliosis, Increased serum leptin, Primary microcephaly, Failure to thrive, Progressive microcephaly |
ORPHA:778 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe generalized osteoporosis, Microcephaly, Kyphoscoliosis, Micrognathia, Kne... |
OMIM:210730 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Microretrognathia, Sacral dimple, Flat occiput, Anteverted nares, Short neck, Microce... |
OMIM:300966 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Narrow nose, Long nose, Kyphosis, Carious teeth, Scoliosis, Camptodactyly, Short... |
OMIM:617602 |
Gm1-Gangliosidosis, Type I |
|
Frontal bossing, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Dep... |
OMIM:230500 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Delayed eruption of teeth, Sacral dimple, Depressed nasal bridge, Craniosynos... |
ORPHA:235 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Obesity, Scoliosis |
OMIM:618124 |
Arthrogryposis, Distal, Type 5 |
|
Limited wrist extension, Kyphosis, Distal arthrogryposis, Scoliosis, Congenital finger flexion co... |
OMIM:108145 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal nasal morphology, Kyphosis, Brac... |
ORPHA:404440 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Microcephaly, Joint stiffness, Kyphosis, Scoliosis, Short nose, Failure t... |
OMIM:617988 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Alg9-Cdg |
|
Microretrognathia, Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Delayed cran... |
ORPHA:79328 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Small for gestational age, Prominent na... |
OMIM:610443 |
Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:617435 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Thoracic hemivertebrae, Dislocated radial head, Joint la... |
OMIM:268310 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Microcephaly, Ky... |
OMIM:615084 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:98855 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Elb... |
ORPHA:98863 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
Hurler-Scheie Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Contracture of th... |
OMIM:607015 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Short neck, Hypoplasia of the odon... |
OMIM:253220 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte... |
ORPHA:3042 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:614409 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Sialidosis Type 1 |
|
Frontal bossing, Kyphosis, Splenomegaly, Wide nasal bridge, Abnormal form of the vertebral bodies... |
ORPHA:812 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Elbow dislocation, Large fontanelles, Delayed cranial suture closure, Joint stiffness |
ORPHA:2249 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Progressive microcephaly |
ORPHA:79327 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
Micro Syndrome |
|
Anteverted nares, Microcephaly, Joint stiffness, Kyphosis, Micrognathia, Wide nasal bridge, Scoli... |
ORPHA:2510 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growt... |
ORPHA:1855 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Thy... |
OMIM:615108 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Hypoplasia of the primary tee... |
ORPHA:90322 |
Diamond-Blackfan Anemia 1 |
|
Failure to thrive, Macrocytic anemia, Short neck, Parietal foramina, Microcephaly, Micrognathia, ... |
OMIM:105650 |
Trisomy 10P |
|
Frontal bossing, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Small for gestat... |
ORPHA:171929 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Short neck, Large for gestational age, Kyphosis, Joint hyperflexibilit... |
ORPHA:77301 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Microcephaly, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:702 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Delayed closure of... |
OMIM:127000 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:98853 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:255200 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Dystoni... |
ORPHA:845 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Papilledema |
OMIM:619471 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Craniosynostosis, Limitation of joint mobility, ... |
ORPHA:1272 |
Spondyloperipheral Dysplasia |
|
Depressed nasal bridge, Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irreg... |
OMIM:271700 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Osteoporosis, Increased ... |
OMIM:259770 |
Schinzel-Giedion Syndrome |
|
Short neck, Micrognathia, Choanal stenosis, Myeloid leukemia, Streak ovary, Wide anterior fontane... |
ORPHA:798 |
Hartsfield Syndrome |
|
Wide nose, Craniosynostosis, Microcephaly, Gonadotropin deficiency, Diabetes insipidus, Hypoplasi... |
OMIM:615465 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Frontal bossing, Severe B lymphocytopenia, Depressed nasal bridge, Craniosynost... |
OMIM:620005 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Ky... |
OMIM:309350 |
Alexander Disease |
|
Osteopenia, Frontal bossing, Diabetes mellitus, Short neck, Precocious puberty, Hyperlordosis, Ky... |
ORPHA:58 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Depressed nasal bridge, Craniosynostosis, Limited wrist... |
ORPHA:576 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Thy... |
OMIM:615109 |
Craniotubular Dysplasia, Ikegawa Type |
|
Anteverted nares, Dolichocephaly, Increased intervertebral space, Wide nasal bridge, Sclerosis of... |
OMIM:619727 |
Atelis Syndrome 2 |
|
Frontal bossing, Sacral dimple, Microcephaly, Micrognathia, Kyphosis, Prominent nose, Elevated ci... |
OMIM:620185 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Thy... |
OMIM:158350 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617301 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Microcephaly, Ky... |
ORPHA:352447 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Kyphosis |
OMIM:614898 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Rickets, Osteolysis, Large fontanelles, Hip dis... |
ORPHA:198 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Microcephaly, Overweight, Kyphosis, Flexion contracture, Brachycephaly, Pl... |
ORPHA:500055 |
2Q31.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Microcephaly, Short neck, Kyphosis, Micrognathi... |
ORPHA:251014 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Diabetes mellitus, Decreased serum leptin, Sp... |
OMIM:608594 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Micrognathia, Cach... |
ORPHA:558 |
Mohr Syndrome |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Bifid nasal tip... |
OMIM:252100 |
Saethre-Chotzen Syndrome |
|
Narrow nose, Parietal foramina, Hypoplasia of the maxilla, Long nose, Oxycephaly, Cleft of chin, ... |
OMIM:101400 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Macrocephaly |
OMIM:603387 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Osteolytic defe... |
ORPHA:90153 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Decreas... |
ORPHA:909 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Small for gestational age, Prominent nasal bridge, Delayed e... |
OMIM:133540 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hypergonadotropic hypogonadism, Depressed nasal bridge, Microcephaly, Kyphosis, Flexi... |
OMIM:212065 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Frontal bossing, Depressed nasal bridge, Elevated hemoglobin A1c, Narrow nasal ridge,... |
OMIM:619127 |
Cono-Spondylar Dysplasia |
|
Anteverted nares, Short neck, Kyphosis, Scoliosis, Failure to thrive, Midface retrusion |
ORPHA:420794 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Short neck, Kyphosis, Splenomegaly, Flexion contracture, Scaphocephaly... |
OMIM:309900 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Elevated hemoglobin A1c, Decreased serum lept... |
OMIM:269700 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Zttk Syndrome |
|
Relative macrocephaly, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Hypoplasia of t... |
OMIM:617140 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Microcephaly, Ky... |
OMIM:301040 |
Wrinkly Skin Syndrome |
|
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2834 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasa... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasa... |
ORPHA:363958 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Anteverted nares, Micrognathia, Kyphosis, Increased mean corpuscular volume, Bip... |
ORPHA:261250 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Hypothyroidism, Joint laxity, Anteverted nares, Depressed nasal bridge, Dolichoceph... |
OMIM:619325 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, Kyphosis, Eruption failure, Secondary microcephaly, Scoliosis, Primary microcephaly... |
ORPHA:476126 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Flat occiput, Micrognathia, Osteomalacia, Abnormal de... |
ORPHA:534 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Prominent nasal bridge, Kyphoscoliosis... |
ORPHA:457359 |
Atypical Rett Syndrome |
|
Kyphosis, Secondary microcephaly, Scoliosis |
ORPHA:3095 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Micrognathia, Kyphosis, Hip dislocation, Hemivertebrae, Abnormality of the sense of s... |
ORPHA:958 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathi... |
OMIM:616894 |
Menkes Disease |
|
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Microcephaly, Micrognathia, Osteoporosis, ... |
ORPHA:565 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Slender nose, Delayed eruption of primary teeth, Microcep... |
OMIM:216400 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Sensorineural hearing impairment, Decreased circulating copper concentration |
OMIM:300972 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin |
ORPHA:79085 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Hypogonadotropic hypogonadism, Flat acetabular roof, Fused cervical vertebrae, Mac... |
OMIM:617159 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion contracture... |
OMIM:180849 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Prominent nasal bridge, Obesity |
ORPHA:261222 |
Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal calvaria morph... |
ORPHA:563612 |
Wolf-Hirschhorn Syndrome |
|
Frontal bossing, Sacral dimple, Microcephaly, Micrognathia, Kyphosis, Osteoporosis, Wide nasal br... |
ORPHA:280 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Short neck, Micrognathia, Hypoplasia of the maxilla, Large for gestational... |
ORPHA:96334 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Micrognathia, Kyphosis, Cessation of head growth, Congenital hypothyroidism, Contractures of the ... |
OMIM:617527 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Anteverted nares, Recurrent fractures, Kyphoscoliosis, Prominent nasal bri... |
ORPHA:3063 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Frontal bossing, Relative macrocephaly, Narrow nasal bridge, Slender build, Kyphosc... |
OMIM:300967 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Dela... |
OMIM:303600 |
Occipital Horn Syndrome |
|
Joint laxity, Persistent open anterior fontanelle, Capitate-hamate fusion, Kyphosis, Osteoporosis... |
OMIM:304150 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flexion contracture, Reduced ... |
OMIM:259050 |
Weaver Syndrome |
|
Mandibular prognathia, Flat occiput, Depressed nasal bridge, Kyphosis, Retrognathia, Macrocephaly... |
OMIM:277590 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Anteverted nares, Cachexia, Abnormality of the thyroid gland, Kyphosis, Midline defect of the nos... |
ORPHA:1969 |
Noonan Syndrome 14 |
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Prominent nasal bridge, Short neck, Kyphosis, Prominent nasolabial fold, Cubitus valgus, Lymphope... |
OMIM:619745 |
Trisomy 13 |
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Kyphosis, Scoliosis, Calvarial skull defect, Abnormality of the fontanelles or cranial sutures |
ORPHA:3378 |
Dent Disease |
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Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
ORPHA:1652 |
Cidec-Related Familial Partial Lipodystrophy |
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Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin |
ORPHA:435651 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Microcephaly, Rickets, Reduced... |
OMIM:613658 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Mosaic Trisomy 20 |
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Vertebral fusion, Micrognathia, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Verteb... |
ORPHA:1724 |
Srd5A3-Cdg |
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Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr... |
ORPHA:324737 |
Genitopalatocardiac Syndrome |
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Micrognathia, Microcephaly, Kyphosis, Wide nasal bridge, Scoliosis |
ORPHA:2075 |
Sandhoff Disease |
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Exaggerated startle response, Orthostatic hypotension |
OMIM:268800 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Kyphosis, Microcephaly |
ORPHA:500180 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Joint laxity, Frontal bossing, Mandibular prognathia, Prominent nasal bridge, Hyperlordosis, Larg... |
OMIM:617011 |
Microphthalmia, Lenz Type |
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Delayed eruption of teeth, Camptodactyly of finger, Hyperlordosis, Microcephaly, Kyphosis, Scoliosis |
ORPHA:568 |
Lipe-Related Familial Partial Lipodystrophy |
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Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin |
ORPHA:435660 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Sacral dimple, Flat occiput, Large fontanelles, Brachycephaly, Depressed nasal ridge, Wide nasal ... |
ORPHA:2211 |
Lowe Oculocerebrorenal Syndrome |
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Failure to thrive, Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Rickets, Hip ... |
OMIM:309000 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Autosomal Recessive Robinow Syndrome |
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Frontal bossing, Sacral dimple, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge... |
ORPHA:1507 |
Mend Syndrome |
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Sacral dimple, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Kyphosis, Abnormal n... |
ORPHA:401973 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system |
OMIM:120200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Anteverted nares, Microcephaly, Kyphosis, Scoliosis, Retrognathia |
OMIM:616449 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis, Prominent nose, Brachycephaly, Microcephaly |
OMIM:619244 |
Fucosidosis |
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Kyphosis, Brachycephaly, Anterior beaking of lumbar vertebrae, Failure to thrive, Hypothyroidism |
ORPHA:349 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Otopalatodigital Syndrome, Type Ii |
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Frontal bossing, Congenital hip dislocation, Depressed nasal bridge, Elbow contracture, Delayed c... |
OMIM:304120 |
Alkaptonuria |
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Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Spondyloocular Syndrome |
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Osteopenia, Platyspondyly, Decreased body weight, Vertebral compression fracture, Thin bony cortex |
OMIM:605822 |
Ogden Syndrome |
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Large posterior fontanelle, Congenital hip dislocation, Maternal diabetes, Short neck, Micrognath... |
OMIM:300855 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Micrognathia, Kyphosis, Knee flexion contracture, Dolichocephaly, Lymphopenia |
OMIM:619708 |
Ayme-Gripp Syndrome |
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Mandibular prognathia, Depressed nasal bridge, Short nose, Brachycephaly, Wide nasal bridge, Radi... |
OMIM:601088 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Pigmentary retinopathy, Low-set ears, Hypercholesterolemia, Macrotia |
OMIM:118450 |
Mend Syndrome |
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Microretrognathia, Sacral dimple, Prominent nasal bridge, Micrognathia, Kyphosis, Bulbous nose, S... |
OMIM:300960 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Remnants of the hyaloid vascular system |
ORPHA:231736 |
Proteus Syndrome |
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Neoplasm of the thymus, Abnormal form of the vertebral bodies, Abnormality of the wrist, Thick na... |
ORPHA:744 |
Frontofacionasal Dysplasia |
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Underdeveloped nasal alae, Brachycephaly, Midline defect of the nose, Bifid nose, Short nose, Mid... |
OMIM:229400 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Mandibular prognathia, Anteverted nares, Microcephaly, Kyphosis, Scoliosis, Prominent nasal tip, ... |
ORPHA:464738 |
Aspartylglucosaminuria |
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Joint laxity, Anteverted nares, Depressed nasal bridge, Microcephaly, Kyphosis, Vacuolated lympho... |
OMIM:208400 |
Rett Syndrome |
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Kyphosis, Cachexia, Secondary microcephaly, Scoliosis |
OMIM:312750 |
Cardiofacioneurodevelopmental Syndrome |
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Microcephaly, Asplenia, Kyphosis, Micrognathia, Camptodactyly |
OMIM:619123 |
Multiple Endocrine Neoplasia, Type Iib |
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Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis,... |
OMIM:162300 |
Rett Syndrome, Congenital Variant |
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Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Midface retrusion, Progressive microce... |
OMIM:613454 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Microcephaly, Preco... |
OMIM:194190 |
Marden-Walker Syndrome |
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Failure to thrive, Camptodactyly of finger, Microcephaly, Joint stiffness, Kyphosis, Micrognathia... |
ORPHA:2461 |
Pontocerebellar Hypoplasia, Type 17 |
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Microretrognathia, Kyphosis |
OMIM:619909 |
1P36 Deletion Syndrome |
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Frontal bossing, Depressed nasal bridge, Camptodactyly of finger, Microcephaly, Joint stiffness, ... |
ORPHA:1606 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Hypertriglyceridemia, Pigmentary retinopathy, Low-set ears, Hypercholest... |
OMIM:606721 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Failure to thrive, Small for gestational age, Prominent nasal bridge, Ankle flexion contracture, ... |
ORPHA:464311 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Hashimoto thyroiditis, Osteop... |
ORPHA:99413 |
Turner Syndrome |
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Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Hashimoto thyroiditis, Osteop... |
ORPHA:881 |
Mosaic Monosomy X |
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Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Hashimoto thyroiditis, Osteop... |
ORPHA:99228 |
Monosomy X |
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Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Hashimoto thyroiditis, Osteop... |
ORPHA:99226 |
Classic Homocystinuria |
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Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis |
ORPHA:394 |
Curry-Jones Syndrome |
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Wormian bones, Bicoronal synostosis, Unicoronal synostosis |
OMIM:601707 |
Hunter-Macdonald Syndrome |
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Premature osteoarthritis, Large fontanelles, Brachycephaly, Scoliosis, Camptodactyly, Cubitus val... |
OMIM:611962 |
Holt-Oram Syndrome |
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Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness |
ORPHA:392 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
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Kyphosis, Prominent nasal bridge, Midface retrusion, Micrognathia |
OMIM:609944 |
Chromosome Xq26.3 Duplication Syndrome |
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Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... |
OMIM:300942 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Wormian bones, Abnormal vertebral morphology, Decreased response to growth hormone stimulation te... |
ORPHA:444077 |
Orofaciodigital Syndrome Iii |
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Supernumerary tooth, Kyphosis, Bulbous nose |
OMIM:258850 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Sacral dimple, Small for gestational age, Decreased response to growth hormone stimulation test, ... |
ORPHA:268261 |
Brachyolmia Type 3 |
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Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Kyphosis, Bilateral camptodactyly, Scoliosis, Midface retrusion, Hip subluxation |
OMIM:619557 |
Autosomal Dominant Cutis Laxa |
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Osteopenia, Joint laxity, Genu recurvatum, Microcephaly, Hip dislocation, Abnormal curvature of t... |
ORPHA:90348 |
Becker Nevus Syndrome |
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Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Multiple joint contractures, Narrow nasal tip, Anterior pituitary hypoplasia, Prominent nasal bri... |
ORPHA:464306 |
Poland Syndrome |
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Diabetes mellitus, Microcephaly, Short neck, Kyphosis, Hemivertebrae, Finger symphalangism, Reduc... |
ORPHA:2911 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Frontal bossing, Microcephaly, Obesity, Scoliosis, Hyposmia, Delayed cranial suture closure |
OMIM:618653 |
Somatomammotropinoma |
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Mandibular prognathia, Frontal bossing, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadi... |
ORPHA:314769 |
Cowden Syndrome |
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Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphosis, Bone cyst, Scoliosis, M... |
ORPHA:201 |
Acromegaly |
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Mandibular prognathia, Frontal bossing, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadi... |
ORPHA:963 |
Dystonia 1, Torsion, Autosomal Dominant |
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Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Joint laxity, Joint dislocation, Microretrognathia, Generalized joint laxity, Large fontanelles, ... |
OMIM:601776 |
Yunis-Varon Syndrome |
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Narrow nasal base, Wide cranial sutures, Absent sternal ossification, Anteverted nares, Abnormal ... |
ORPHA:3472 |
Scapuloperoneal Spinal Muscular Atrophy |
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Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Steinert Myotonic Dystrophy |
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Fatigable weakness of bulbar muscles, Hypercholesterolemia, Facial diplegia |
ORPHA:273 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Abnormal curvature of the vertebral column, Decreased body weight, Joint laxity, Antev... |
OMIM:619475 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
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Arthrogryposis multiplex congenita, Kyphosis, Scoliosis |
OMIM:617143 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Hip contracture, Short neck, Broad nasal tip, Kyphosis, Elbow flexion contracture, Wide nasal bri... |
OMIM:619194 |
Ramon Syndrome |
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Delayed eruption of teeth, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis |
OMIM:266270 |
Autosomal Recessive Ataxia, Beauce Type |
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Ankle clonus, Kyphosis, Scoliosis |
ORPHA:88644 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Shprintzen Omphalocele Syndrome |
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Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Short columella, Scoliosis, D... |
OMIM:182210 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Ankle clonus, Kyphosis, Scoliosis |
OMIM:211530 |
Oculo-Palato-Cerebral Syndrome |
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Thickened helices, Retinal detachment, Macrotia, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Williams Syndrome |
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Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, S... |
ORPHA:904 |
Medulloblastoma |
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Back pain, Progressive macrocephaly, Delayed cranial suture closure |
ORPHA:616 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Kyphosis, Scoliosis |
ORPHA:79107 |
Yunis-Varon Syndrome |
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Flat occiput, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia,... |
OMIM:216340 |
Smith-Lemli-Opitz Syndrome |
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Anteverted nares, Abnormal dental enamel morphology, Choanal atresia, Microcephaly, Short neck, K... |
ORPHA:818 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process... |
OMIM:300106 |
Cockayne Syndrome |
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Diabetes mellitus, Convex nasal ridge, Delayed eruption of primary teeth, Cachexia, Carious teeth... |
ORPHA:191 |
Autosomal Recessive Cutis Laxa Type 1 |
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Joint laxity, Microcephaly, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologi... |
ORPHA:90349 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Depressed nasal bridge, Precocious puberty, Kyphosis, Osteoporosis, Osteolysis, Glomu... |
ORPHA:97685 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Normochromic anem... |
OMIM:615512 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy |
ORPHA:391665 |
Hypermobile Ehlers-Danlos Syndrome |
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Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
Kbg Syndrome |
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Vertebral fusion, Anteverted nares, Prominent nasal bridge, Short neck, Microcephaly, Underdevelo... |
OMIM:148050 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Coffin-Siris Syndrome 1 |
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Joint laxity, Frontal bossing, Sacral dimple, Delayed eruption of teeth, Depressed nasal bridge, ... |
OMIM:135900 |
Neurofibromatosis Type 1 |
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Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Precocious puberty, Ky... |
ORPHA:636 |
Cockayne Syndrome Type 3 |
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Narrow nose, Carious teeth, Kyphosis, Splenomegaly, Flexion contracture, Scoliosis, Enamel hypopl... |
ORPHA:90324 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Kyphosis, Micrognathia, Microcephaly |
ORPHA:1393 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Sensorine... |
ORPHA:637 |
Viss Syndrome |
|
Micrognathia, Generalized joint laxity, Brachycephaly, Hypothyroidism, Joint laxity, Microretrogn... |
OMIM:619472 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
Sotos Syndrome |
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Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos... |
ORPHA:821 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Abnormal dental enamel morphology, Microcephaly, Choana... |
ORPHA:2273 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system |
OMIM:221900 |
Branchiooculofacial Syndrome |
|
Depressed nasal bridge, Microcephaly, Short neck, Hyperlordosis, Kyphosis, Micrognathia, Elbow fl... |
OMIM:113620 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Micrognathia |
OMIM:153400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Short neck, Micrognathia, Flexion contracture, Camptodactyly of 2nd-5... |
OMIM:601803 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ... |
OMIM:300166 |
Norrie Disease |
|
Retinal detachment, Remnants of the hyaloid vascular system, Sensorineural hearing impairment, Op... |
ORPHA:649 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe |
OMIM:619522 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Kyphosis |
ORPHA:171629 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Unilateral deafness, Cupped ear, Anterior creases of ear... |
OMIM:619539 |
Alström Syndrome |
|
Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation... |
ORPHA:64 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system |
OMIM:157170 |