Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Disorganization, Mouse, Homolog Of |
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Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Dwarfism With Tall Vertebrae |
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Increased vertebral height, Severe short stature, Coxa vara |
OMIM:126950 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d... |
OMIM:618395 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal... |
ORPHA:3268 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... |
OMIM:184255 |
Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
Postaxial Tetramelic Oligodactyly |
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Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Conductive Deafness-Malformed External Ear Syndrome |
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Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Orofacial Cleft 5 |
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Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Orofacial Cleft 1 |
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Cleft palate, Cleft upper lip |
OMIM:119530 |
Hypochondroplasia |
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Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... |
OMIM:146000 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Triphalangeal Thumb, Nonopposable |
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Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... |
OMIM:309620 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums |
ORPHA:401942 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D... |
OMIM:122600 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Anteverted nares, Missing ribs, Microcephaly, Short neck, Hyperlordosis, Sh... |
ORPHA:1797 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... |
ORPHA:1354 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Hyperlordosis, Pectus excavatum, Short neck, Kyphosi... |
ORPHA:2522 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Dispr... |
ORPHA:40 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibu... |
OMIM:602557 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Micr... |
OMIM:616716 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Ri... |
ORPHA:1988 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Abnormal hair morphology, Preaxial... |
ORPHA:64754 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Midface retrusion, Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coro... |
OMIM:118651 |
Brachyolmia, Maroteaux Type |
|
Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy... |
ORPHA:93302 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Depressed nasal ridge, Cox... |
ORPHA:2831 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... |
OMIM:619598 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t... |
ORPHA:163665 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ... |
ORPHA:93304 |
Dental Anomalies And Short Stature |
|
Short stature, Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, S... |
OMIM:601216 |
Isolated Cleft Lip |
|
Small for gestational age, Abnormal Eustachian tube morphology, Conductive hearing impairment, Um... |
ORPHA:199302 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Telecanthus |
|
Anodontia, Bilateral cleft lip and palate |
OMIM:187350 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb... |
OMIM:611209 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Micrognathia, Short neck, Multiple prenatal fractures, Flexion contractu... |
OMIM:616897 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... |
OMIM:608681 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior ... |
OMIM:601357 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A... |
OMIM:600373 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Bifid distal phalanx of the thumb, Overweight, Triangular shaped di... |
ORPHA:370010 |
Charlie M Syndrome |
|
Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio... |
ORPHA:1406 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Depressed nasal bridge, Ventricular septal defect, Short stature, Joint sti... |
OMIM:277600 |
Weill-Marchesani Syndrome 2 |
|
Broad skull, Short metatarsal, Brachycephaly, Broad ribs, Broad metacarpals, Short metacarpal, Lu... |
OMIM:608328 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Mi... |
OMIM:222765 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Small for gestational age, Anteverted nares, Trun... |
OMIM:615583 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s... |
OMIM:609223 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Thanatophoric Dysplasia Type 1 |
|
Micromelia, Femoral bowing, Narrow chest, Atrial septal defect, Cloverleaf skull, Depressed nasal... |
ORPHA:1860 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Patent ductus arteriosu... |
OMIM:618845 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... |
ORPHA:2790 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Absent radius, Elb... |
OMIM:171480 |
Mmep Syndrome |
|
Split foot, Orofacial cleft, Median cleft lip, Triphalangeal thumb |
ORPHA:3434 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Hemivert... |
OMIM:173800 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular r... |
ORPHA:168555 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... |
OMIM:620076 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Synophrys, Brachycephaly, Abnormal form of the vertebral bodies, Scapular ... |
ORPHA:1327 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Butterf... |
OMIM:607143 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... |
ORPHA:2756 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Short tubular bones of the hand, Coxa valga, Vertebra... |
ORPHA:85184 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Gastroschisis |
|
Abdominal wall defect, Gastroschisis |
OMIM:230750 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Sc... |
ORPHA:530983 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... |
ORPHA:2635 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Abnormality of the hand, Frontal encephalocele, Downturned corners of m... |
ORPHA:521308 |
Osteoarthritis With Mild Chondrodysplasia |
|
Short stature, Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... |
OMIM:604864 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Short stature, Optic atrophy, Wide nasal bridge, Conductive hearing impai... |
ORPHA:1513 |
Intellectual Disability, Wolff Type |
|
Inguinal hernia, Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Orofa... |
ORPHA:3080 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping ... |
OMIM:300863 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... |
OMIM:211350 |
Omodysplasia 2 |
|
Short humerus, Frontal bossing, Depressed nasal bridge, Micrognathia, Bifid nasal tip, Anterior w... |
OMIM:164745 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stat... |
OMIM:609324 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Single transverse palmar... |
ORPHA:2332 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... |
OMIM:617719 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Microcephaly, Abnormal thorax morphology, Sm... |
ORPHA:1445 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr... |
OMIM:616583 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antiheli... |
ORPHA:79113 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... |
ORPHA:2370 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... |
ORPHA:90650 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Narrow chest, Sho... |
ORPHA:56304 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly, Micrognathia |
OMIM:100700 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Diprosopus |
|
External ear malformation, Anencephaly, Abnormality of the nose |
ORPHA:1681 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Missing ribs, Humeroradi... |
OMIM:251230 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
2q33.1 deletion syndrome |
|
Inguinal hernia, High palate, Cleft palate |
DECIPHER:51 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Increa... |
ORPHA:94068 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Sh... |
OMIM:602471 |
Microhydranencephaly |
|
Multiple joint contractures, Short stature, Prominent nasal bridge, Microcephaly, Pachygyria, Gro... |
OMIM:605013 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Short stature, Ovoid vertebral bodies, Abnormal femoral neck mo... |
ORPHA:63446 |
Schisis Association |
|
Omphalocele, Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cle... |
ORPHA:63862 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Sclerotic vertebr... |
OMIM:615198 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased i... |
OMIM:618961 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral... |
OMIM:616549 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal fo... |
ORPHA:2234 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Narrow chest, Death in chi... |
OMIM:613320 |
Sprengel Deformity |
|
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... |
ORPHA:3181 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Short stature,... |
OMIM:151200 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Single transverse palmar crease, Narrow mouth, Fibular hypoplasia, High palate, ... |
OMIM:201170 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Odontochondrodysplasia |
|
Frontal bossing, Bowing of the long bones, Death in infancy, Depressed nasal bridge, Short statur... |
ORPHA:166272 |
Spondylometaphyseal Dysplasia, Axial |
|
Short stature, Anterior rib cupping, Rhizomelia, Proximal femoral metaphyseal irregularity, Dispr... |
OMIM:602271 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff... |
OMIM:132400 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, Short toe, Obesi... |
OMIM:139210 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
Cartilage-Hair Hypoplasia |
|
Short palm, Metaphyseal dysplasia, Joint laxity, Lumbar hyperlordosis, Absent pubertal growth spu... |
OMIM:250250 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Limitation of joint mobility, Osteoarthritis, Abnormal joint morphology, Abnorm... |
ORPHA:93351 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Pelviscapular Dysplasia |
|
Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Sh... |
ORPHA:93333 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... |
ORPHA:2019 |
Miller-Dieker Syndrome |
|
Omphalocele, Anteverted nares, Growth delay, EEG abnormality, Lissencephaly, Hypoplasia of the co... |
ORPHA:531 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Inguinal hernia, Microcephaly, Sensorineural hearing impairment, Flexion con... |
OMIM:618379 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
Achondrogenesis Type 1B |
|
Frontal bossing, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Short neck, Ab... |
ORPHA:93298 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Dextrocardia, Missing ri... |
OMIM:613686 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Micro... |
ORPHA:2570 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Ab... |
ORPHA:666 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Flat capital femoral epiphysis, Delayed skeletal maturation, Genu va... |
OMIM:608361 |
Donnai-Barrow Syndrome |
|
Omphalocele, Posteriorly rotated ears, Depressed nasal bridge, Congenital diaphragmatic hernia, W... |
ORPHA:2143 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Joint stiffness... |
ORPHA:969 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Short distal... |
OMIM:620073 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Short palm, Clinodactyly of the 5th... |
ORPHA:915 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Short neck, Delayed ep... |
OMIM:210710 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi... |
ORPHA:1307 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Anteverted nares, Short neck, Kyphosis, Partial agenesis of ... |
ORPHA:420794 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Short stature, Underdeveloped nasal alae, Microcephaly, Wide nasal bridge... |
OMIM:248910 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Frontal bossing, Death in infancy, Rhizomelia, Short stature, Micrognathia, Metaphyse... |
ORPHA:163966 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Delayed skeletal ... |
OMIM:612447 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Joint swelling, Fused cervic... |
OMIM:612852 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Frontal bossing, Severe short stature, Anteverted nares, Recurrent fractu... |
ORPHA:93299 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck |
ORPHA:2578 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femora... |
OMIM:601559 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Short neck, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossi... |
ORPHA:3319 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Oxycephaly, Depressed nasal ridge, Hepatosplenomegaly, Short long bo... |
ORPHA:221054 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Plantar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Parietal ... |
OMIM:109400 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ri... |
OMIM:614524 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Frontal bos... |
ORPHA:93267 |
Slc35A2-Cdg |
|
Osteopenia, Abnormal long bone morphology, Short tibia, Short stature, Aplasia/hypoplasia involvi... |
ORPHA:356961 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Frontal bossing, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocati... |
ORPHA:93328 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Short stature, Microcephaly, Hydrocephalus, Men... |
ORPHA:1908 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Failure to thrive, Delayed skeletal maturation, Abnormal rib morphology, ... |
ORPHA:52 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot |
OMIM:601349 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Iron defici... |
ORPHA:93315 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Enlarged joints, Short stature, Pectus excavatum, Delayed epiphyseal ossificatio... |
ORPHA:166024 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Pes planus, Ventricular septal defect, Rocker ... |
ORPHA:163979 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Parietal Foramina 1 |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis,... |
OMIM:618000 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Intrau... |
ORPHA:96183 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid val... |
ORPHA:1507 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyper... |
OMIM:617396 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility,... |
OMIM:617333 |
Constricting Bands, Congenital |
|
Omphalocele, Syndactyly, Encephalocele, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes ... |
OMIM:217100 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Abnormal ster... |
ORPHA:2990 |
Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Absent fingernail, Synostos... |
ORPHA:3258 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
Acalvaria |
|
Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencep... |
ORPHA:945 |
Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fib... |
OMIM:258315 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Relative macrocephaly, Osteopenia, ... |
OMIM:239000 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Microcephaly, Delayed puberty, Clinod... |
ORPHA:217340 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... |
ORPHA:85198 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A... |
ORPHA:2491 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib puncta... |
ORPHA:1426 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
Gastroschisis |
|
Gastroschisis, Intestinal atresia |
ORPHA:2368 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... |
OMIM:244600 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hydroceph... |
OMIM:314390 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Osteopenia, Brachycephaly, Femoral bowing, Narrow chest, Anteverted ... |
OMIM:618188 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... |
OMIM:216100 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Conductive hearing impairme... |
ORPHA:85179 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... |
OMIM:225060 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Large for gestational age, Micrognathia, Short neck, Flexion con... |
ORPHA:96334 |
Gorlin Syndrome |
|
Frontal bossing, Vertebral fusion, Arachnodactyly, Palmar pits, Hydrocephalus, Plantar pits, Hemi... |
ORPHA:377 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Large for gestational age, Micrognathia, Short neck, Hem... |
OMIM:213980 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Choanal stenosis, Spina... |
OMIM:218600 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, C... |
OMIM:616145 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Micromelia, Short neck, Depressed nasal ridge, Abnormal femur morphology, Narr... |
ORPHA:1842 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Postnatal growth retardation, Hyp... |
OMIM:241410 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of... |
ORPHA:429 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Rib fusion, Obesity, Abnormal... |
ORPHA:261197 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta... |
OMIM:619227 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose |
OMIM:300577 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... |
OMIM:617974 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... |
OMIM:150250 |
Juberg-Hayward Syndrome |
|
Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphol... |
ORPHA:2319 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Hartsfield Syndrome |
|
Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/... |
ORPHA:2117 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Antevert... |
ORPHA:97360 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, ... |
ORPHA:52429 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Un... |
ORPHA:894 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... |
OMIM:228520 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Anteverted nares, Single transverse palmar crease, Prominent nasal ... |
OMIM:148050 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... |
ORPHA:1570 |
Pierpont Syndrome |
|
Short neck, Brachycephaly, Short palm, Prominent fingertip pads, Prominent subcalcaneal fat pad, ... |
OMIM:602342 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, ... |
OMIM:255710 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Macrocephaly, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Short stature, Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral ... |
ORPHA:1326 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology... |
ORPHA:1486 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Anteverted nares, Narrow nasal ridge, Bulbous nose, Hypoplasia of the brainstem, Choanal stenosis... |
OMIM:236500 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... |
OMIM:252100 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Short metacarpal, Broad hallux, Accelerated skeletal maturation, Postnatal growth r... |
ORPHA:439822 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Midface retrusion, Craniofacial hype... |
ORPHA:3219 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... |
OMIM:303110 |
Opsismodysplasia |
|
Flat occiput, Hypoplastic vertebral bodies, Narrow chest, Abnormally ossified vertebrae, Depresse... |
ORPHA:2746 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Microcephaly, Low-set ears, Conductive hearing impairment, Intrauterine g... |
OMIM:616910 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short stature, Short neck |
ORPHA:2015 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, D... |
OMIM:102370 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Inguinal hernia, Spina bifida, Dermatoglyphic ridges abnormal, Small t... |
OMIM:211960 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Brachycephaly, Femoral bowing, ... |
OMIM:274000 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Un... |
OMIM:616300 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... |
OMIM:119580 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... |
ORPHA:1802 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... |
OMIM:184250 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped ... |
OMIM:309350 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Pectus carinatum, ... |
OMIM:617796 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Brachycephaly, Thoracic kyphosis, Narrow chest, Abnormal bone ossificat... |
ORPHA:163649 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxi... |
OMIM:146510 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Cleft palate, Polydactyly, Talipes equin... |
OMIM:613885 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypop... |
OMIM:136760 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal dental enamel morphology, Sho... |
ORPHA:2323 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc... |
OMIM:301014 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Brachycephaly, Short p... |
OMIM:613776 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Glenoid fossa hypoplasia, Hemivertebrae, Hip dislocation, Flat acetabular r... |
OMIM:619345 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly... |
OMIM:241800 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Short stature, Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morpholo... |
ORPHA:1837 |
Thanatophoric Dysplasia, Type I |
|
Short neck, Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small abnormally form... |
OMIM:187600 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,... |
OMIM:614120 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Thoracolumbar scol... |
ORPHA:2437 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Turricephaly,... |
ORPHA:171839 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Anteverted nares, Depressed nasal bridge, Prominent nose, Hydrocephalus, Bulbous nose... |
ORPHA:2180 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... |
OMIM:256050 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... |
OMIM:184260 |
Phenobarbital Embryopathy |
|
Unilateral cleft lip, Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morp... |
ORPHA:93283 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical ve... |
OMIM:609053 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Myelomeningocele, Hydrocep... |
ORPHA:1914 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Small for gestational age, Mild postnatal growth retardation, Sh... |
OMIM:101800 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... |
OMIM:151210 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Short columella, Short nose, Patchy distortion of ver... |
OMIM:155050 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathi... |
ORPHA:263508 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ... |
ORPHA:65759 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short stature, Short neck, Rib fusion, Brachycephaly, Hemivertebrae, Vertebral segment... |
ORPHA:1394 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Tapered finger, Pectus excavatum, Microcephaly, Patent ductus arteriosus,... |
ORPHA:65286 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation, Microcephaly |
ORPHA:293 |
Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly, Femoral hernia, Inguinal hernia |
ORPHA:2917 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ... |
OMIM:607361 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Microcephaly, Kyphosis,... |
ORPHA:3121 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Accelerated skeletal maturation, Knee dislocation, Irregular vertebral endplates, M... |
OMIM:618363 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Eosinophilia, Broad skull, Hydrocephalus, Abnormality of the spleen,... |
ORPHA:228123 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Adenylosuccinate Lyase Deficiency |
|
Hypointensity of cerebral white matter on MRI, Anteverted nares, Microcephaly, Low-set ears, Shor... |
ORPHA:46 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defec... |
ORPHA:280 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Failure to thrive, Depressed nasal bridge, Anteverted nares, Microcephaly, Abnormal Eustachian tu... |
ORPHA:513456 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... |
ORPHA:376 |
Three M Syndrome 1 |
|
Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ... |
OMIM:273750 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... |
OMIM:166210 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microm... |
ORPHA:440354 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Short stature, ... |
OMIM:610967 |
Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Micromelia, Underdeveloped nasal alae, Microcephaly, Kyphosis, L... |
OMIM:180870 |
Thomas Syndrome |
|
Cleft palate, Cleft upper lip |
ORPHA:3316 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... |
ORPHA:3016 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Depressed nasal bridge, Short stature, Micrognathia, Pectus excavatum, Microceph... |
ORPHA:1695 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Broad nasal tip, Micrognathia, De... |
ORPHA:166016 |
Zechi-Ceide Syndrome |
|
Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Short distal phalanx of... |
OMIM:612916 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Short neck, Bifid nasal tip, Dysplastic corpus callos... |
OMIM:616854 |
Acrodysostosis |
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Micromelia, Accelerated skeletal maturation, Short metatarsal, Depressed nasal ridge, Brachycepha... |
ORPHA:950 |
Angioosteohypotrophic Syndrome |
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Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... |
ORPHA:75508 |
Meckel Syndrome, Type 10 |
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Occipital encephalocele, Abnormal pinna morphology, Anencephaly, Cerebellar hypoplasia, Camptodac... |
OMIM:614175 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
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Non-midline cleft lip |
ORPHA:2007 |
Mucolipidosis Type Iii |
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Short stature, Hyperlordosis, Joint stiffness, Abnormal form of the vertebral bodies, Reduced bon... |
ORPHA:577 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Depressed nasal bridge, Wide anterior fontanel, Severe postnatal growth retardation,... |
OMIM:275100 |
Wolf-Hirschhorn Syndrome |
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Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept... |
OMIM:194190 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
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Short stature, Camptodactyly of finger, Microcephaly, Recurrent pneumonia, Optic atrophy, Protrud... |
ORPHA:1495 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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11 pairs of ribs, Osteopenia, Sandal gap, Anteverted nares, Short stature, Pectus excavatum, Shor... |
OMIM:617877 |
Trisomy 20P |
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Micrognathia, Short neck, Low anterior hairline, Brachycephaly, Abnormal form of the vertebral bo... |
ORPHA:261318 |
Dyggve-Melchior-Clausen Disease |
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Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
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Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Occipital Horn Syndrome |
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Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe... |
OMIM:304150 |
Frontometaphyseal Dysplasia |
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Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Osteogenesis Imperfecta, Type Xvi |
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Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Small for gestat... |
OMIM:616229 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
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Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal nasal morphology... |
ORPHA:2878 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Cleft palate, Cleft upper lip |
OMIM:120433 |
Otopalatodigital Syndrome, Type I |
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Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Brachycephaly, Long thorax... |
OMIM:617925 |
Laryngotracheoesophageal Cleft Type 4 |
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Cachexia, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Donnai-Barrow Syndrome |
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Omphalocele, Depressed nasal bridge, Posteriorly rotated ears, Congenital diaphragmatic hernia, B... |
OMIM:222448 |
Polydactyly, Postaxial, Type A8 |
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Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Sifrim-Hitz-Weiss Syndrome |
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Short stature, Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, S... |
OMIM:617159 |
Maxillonasal Dysplasia |
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Patchy distortion of vertebrae, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1248 |
Pelvis-Shoulder Dysplasia |
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Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal phalanx clinodacty... |
ORPHA:2839 |
Deafness, Autosomal Dominant 23 |
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Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Aplasia Cutis Congenita |
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Finger syndactyly, Toe syndactyly, Calvarial skull defect, Spinal dysraphism |
ORPHA:1114 |
Acropectoral Syndrome |
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Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Short stature, Cortical sclero... |
OMIM:122860 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
Spinal Dysplasia, Anhalt Type |
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Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Coxa vara... |
OMIM:601344 |
Oculoauriculofrontonasal Syndrome |
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Encephalocele, Pericallosal lipoma, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Microc... |
ORPHA:398156 |
Palatopharyngeal Incompetence |
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Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Achondrogenesis |
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Frontal bossing, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Short neck, Ab... |
ORPHA:932 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Hydrocephalus, Unilambdoid synostos... |
OMIM:618577 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short stature, Growth delay, Progressive microcephaly, Short nose, Macrot... |
ORPHA:438178 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Cartilage-Hair Hypoplasia |
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Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed ... |
ORPHA:175 |
Smith-Mccort Dysplasia 1 |
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Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... |
OMIM:607326 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
Chst3-Related Skeletal Dysplasia |
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Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality o... |
ORPHA:263463 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
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Cleft upper lip, Downturned corners of mouth, Short philtrum, Slender finger, Smooth philtrum |
OMIM:613192 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
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Severe short stature, Microcephaly, Bifid nasal tip, Microtia, Atresia of the external auditory c... |
ORPHA:2213 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Leri Pleonosteosis |
|
Severe short stature, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocatio... |
ORPHA:2900 |
Zttk Syndrome |
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Flexion contracture, Hemivertebrae, Atrial septal defect, Depressed nasal bridge, Short stature, ... |
OMIM:617140 |
Orofaciodigital Syndrome Vi |
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Micrognathia, Tibial bowing, Agenesis of corpus callosum, Short stature, Central Y-shaped metacar... |
OMIM:277170 |
Brachyolmia Type 2 |
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Platyspondyly, Short stature |
OMIM:613678 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe... |
OMIM:263750 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatarsal, Advanced ossificati... |
OMIM:614613 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
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Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... |
ORPHA:3236 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Midface retrusion, Arachnodactyly, Hyperconvex nail, Post... |
OMIM:619721 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f... |
ORPHA:1104 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Brachyce... |
ORPHA:1514 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short neck, Femoral bowing, Short metacarpal, Depressed nasa... |
OMIM:616723 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Positional foot deformity, Prominent fingertip pads, Atrial septal defect,... |
OMIM:610443 |
Ravine Syndrome |
|
Abnormal basal ganglia morphology, Failure to thrive, Abnormal auditory evoked potentials, Decrea... |
ORPHA:99852 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
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Long toe, Arachnodactyly, Cleft lip, Cleft palate, Large hands |
OMIM:300263 |
Aicardi Syndrome |
|
Anteverted nares, Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Micro... |
OMIM:304050 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
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Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ... |
ORPHA:85172 |
Joubert Syndrome 10 |
|
Frontal bossing, Postaxial polydactyly, Wide nasal bridge, Macrocephaly, Hirsutism |
OMIM:300804 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Thrombocytopenia, Death in adolescence, Short long bone, Stillbirth, Sc... |
OMIM:619751 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal tho... |
OMIM:605274 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Posteriorly rotated ears, Choanal atresia, Hearing impairment, Microcephaly, Small... |
OMIM:619148 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Microcephaly, Depressed nasal ridge, Low-set ears, In... |
ORPHA:1832 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Disproportionate short stature, Flared metaphysis, Flattened epiphysis, Femo... |
ORPHA:93356 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Short stature, Microcephaly, Prominent nose, Sensorineural hearing impa... |
OMIM:604804 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Choanal stenosis, Microcephaly |
OMIM:618939 |
Ulbright-Hodes Syndrome |
|
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Short metacarpal, Depressed ... |
ORPHA:3404 |
Pseudohypoparathyroidism, Type Ic |
|
Depressed nasal bridge, Short stature, Basal ganglia calcification, Choroid plexus calcification,... |
OMIM:612462 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Abnormal hand morphology, Small hand, Cleft palate |
OMIM:300261 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... |
OMIM:215140 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver... |
ORPHA:2916 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn... |
ORPHA:949 |
Oculoskeletodental Syndrome |
|
Depressed nasal bridge, Hypercalcemia, Short stature, Dysplastic corpus callosum, Sensorineural h... |
ORPHA:557003 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
3C Syndrome |
|
Micrognathia, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology, Atrial septal defec... |
ORPHA:7 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Pter... |
ORPHA:1865 |
Cantú Syndrome |
|
Short neck, Accelerated skeletal maturation, Cardiomegaly, Narrow chest, Broad ribs, Finger synda... |
ORPHA:1517 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... |
OMIM:618761 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Developmental And Epileptic Encephalopathy 63 |
|
Conductive hearing impairment, Bulbous nose, Cerebral cortical atrophy, EEG with generalized epil... |
OMIM:617976 |
Phaver Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Ventricular septal defect,... |
ORPHA:2876 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Absent septum pellucidum, Hydrocephalus, Anencephaly, Abnormal... |
ORPHA:2189 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Omphalocele, Short stature, Choanal atresia, Spina bifida, Mic... |
ORPHA:3380 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape... |
OMIM:271665 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypoplastic cer... |
ORPHA:79345 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long phi... |
ORPHA:1252 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Short stature, Thrombocytopenia, A... |
ORPHA:508542 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces... |
OMIM:252500 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, ... |
ORPHA:582 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... |
OMIM:226900 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Prominent nasal bridge, Bicuspid aortic valve, Underdeveloped n... |
ORPHA:96169 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Prominent occiput... |
OMIM:619122 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bilateral single transverse palmar creases, Bicuspid aortic valve, Proximal pla... |
ORPHA:1120 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Micrognathia, Depressed nasal... |
OMIM:615761 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Grant Syndrome |
|
Joint dislocation, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Short statu... |
ORPHA:2097 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Short stature, Spina bifida, Microcephaly, Conductive hearing impairment,... |
ORPHA:1393 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Depressed nasal bridge, Flexion co... |
OMIM:619479 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ... |
OMIM:612847 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... |
ORPHA:392 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno... |
ORPHA:2050 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
Burn-Mckeown Syndrome |
|
Inguinal hernia, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Thin vermilion border, Short ... |
OMIM:608572 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Pes planus, Sacral dimple, Short stature, Prominent nasal bridge, Single transverse... |
OMIM:613544 |
Mosaic Trisomy 14 |
|
Frontal bossing, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia,... |
ORPHA:1703 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Rhizomelia, Depressed nasal bridge, Short stature, Micrognathia, Abnorma... |
ORPHA:3098 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Large for gestational age, Tapered finger, Dysplastic corpus callosum... |
ORPHA:544488 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, Narrow chest, Joint laxity, Rhizomelia, A... |
OMIM:218330 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Cleft palate, Short f... |
OMIM:607597 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Underdeveloped nasal alae... |
OMIM:263210 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Retinitis Pigmentosa |
|
Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge, Obesity, At... |
ORPHA:791 |
Cerebrocostomandibular Syndrome |
|
Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... |
OMIM:117650 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, Ventricul... |
ORPHA:1458 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Conductive hearing impairment, Sensorineural hearing impairment, Ne... |
OMIM:610738 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Otofaciocervical Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Protruding ear, Abnormal antihelix morph... |
ORPHA:2792 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Micrognathia... |
OMIM:224410 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Secondary microcephaly, Anteverted nares, Cerebral atrophy |
OMIM:618497 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... |
ORPHA:93307 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Short foot, Wide mouth, Median pseudocleft lip, Clinodactyly of the 5th finger, Umbilical hernia,... |
OMIM:619758 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Failure to thrive, Inguinal hernia, Posteriorly rotated ears, Anteverted nares, Micr... |
OMIM:247200 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... |
ORPHA:189 |
Autosomal Recessive Amelia |
|
Amelia involving the upper limbs, Non-midline cleft lip, Orofacial cleft, Acromelia of the lower ... |
ORPHA:1027 |
Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Orofacial cleft, Cleft palate, ... |
ORPHA:1752 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Severe short stature, Failure to thrive in infancy, Rhizomelia, Cra... |
ORPHA:2645 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... |
ORPHA:916 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Micrognathia, Short neck, Vertebral fusion, Short stature, Patent ductus a... |
OMIM:130720 |
Atelosteogenesis, Type Iii |
|
Cervical kyphosis, Micrognathia, Short neck, Tibial bowing, Knee dislocation, Radial bowing, Rhiz... |
OMIM:108721 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... |
OMIM:600987 |
17P13.3 Microduplication Syndrome |
|
Inguinal hernia, Wide nose, Low-set ears, Hypoplasia of the corpus callosum, Short nose |
ORPHA:217385 |
Three M Syndrome 2 |
|
Short neck, Pectus carinatum, Intrauterine growth retardation, Scapular winging, Lumbar hyperlord... |
OMIM:612921 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly... |
OMIM:263520 |
Pseudopseudohypoparathyroidism |
|
Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Intrauterine growth retardation |
ORPHA:79445 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Morquio Syndrome C |
|
Platyspondyly, Severe short stature |
OMIM:252300 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... |
ORPHA:971 |
Three M Syndrome 3 |
|
Small for gestational age, Short stature, Hyperlordosis, Short neck, Increased vertebral height, ... |
OMIM:614205 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Short nose, Depressed nasal ridge |
ORPHA:1906 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joint laxity, Anteverted nares, Shor... |
OMIM:157800 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia, Anteverted nares, Low-set ears |
OMIM:601163 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Single transverse palmar crease, Short stature, Microcephaly, Verte... |
OMIM:614701 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Hypo... |
OMIM:264090 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Microcephaly, Anosmia, Epiphyseal stippling, Abnormality o... |
OMIM:302950 |
Pseudohypoparathyroidism, Type Ia |
|
Depressed nasal bridge, Short stature, Basal ganglia calcification, Choroid plexus calcification,... |
OMIM:103580 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Coronal cleft vertebrae, Epiphyse... |
ORPHA:1952 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Short stature, Abnor... |
ORPHA:79106 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Short stature, Delayed cranial suture closure, Coxa valga, Short thorax... |
ORPHA:2484 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Iniencephaly |
|
Encephalocele, Omphalocele, Rhizomelia, Spina bifida, Congenital diaphragmatic hernia, Myelomenin... |
ORPHA:63259 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Short stature, Primary microcephaly, Continuous spike and waves during... |
OMIM:245570 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ... |
ORPHA:1488 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split... |
ORPHA:2145 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Anteverted nares, Short stature, Pectus excavatum, Hydro... |
ORPHA:2701 |
Craniometaphyseal Dysplasia |
|
Depressed nasal bridge, Facial palsy, Sensorineural hearing impairment, Wide nasal bridge, Conduc... |
ORPHA:1522 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short neck, Joint laxity, Anteverted nares, Deviation of the 5th toe, Slender toe, ... |
ORPHA:391408 |
Aarskog-Scott Syndrome |
|
Lozenge-shaped umbilicus, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, P... |
OMIM:305400 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Short stature, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Fla... |
OMIM:271600 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, Pectus excavatum, Pro... |
ORPHA:1716 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... |
OMIM:193700 |
Smith-Mccort Dysplasia 2 |
|
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... |
OMIM:615222 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Short neck, Accelerated skeletal maturation, Vertebral segmentation d... |
ORPHA:373 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing... |
OMIM:616726 |
Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Cleft palate, Symphalangism affecting the phalanges of the hand, Wide mout... |
ORPHA:1636 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Shor... |
ORPHA:96148 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Genu recurvatum, Short stature, Macrocephaly, Reduced bone mineral density, Sle... |
ORPHA:1185 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenesis |
ORPHA:2003 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate, Holoprosence... |
ORPHA:2165 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... |
ORPHA:2378 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Enlarged thorax, Biparietal narrowing, Atr... |
ORPHA:251071 |
C Syndrome |
|
Micromelia, Micrognathia, Dislocated radial head, Short metacarpal, Anteverted nares, Short statu... |
OMIM:211750 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... |
ORPHA:83468 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Anteverted nares, Micromelia, Dep... |
ORPHA:93329 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... |
ORPHA:508498 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Flexion contracture of finger, Small for gestational age, Postnatal growth retardation, Scoliosis... |
ORPHA:319332 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Abnormal rib morphology... |
ORPHA:2021 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal wide... |
ORPHA:93357 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Microcephaly, Partial agenesis of the corpus callosum, Small hand,... |
ORPHA:50 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint stiffne... |
OMIM:252605 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Bilateral single transverse palmar creases, Non-midline cleft lip, C... |
ORPHA:1770 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Narrow nasal bridge, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Short stature, Metata... |
ORPHA:3082 |
Geroderma Osteodysplastica |
|
Severe short stature, Recurrent fractures, Vertebral compression fracture, Hip dislocation, Abnor... |
ORPHA:2078 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Short stature, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow... |
OMIM:617661 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Basal ganglia calcification, Hypokalemia, Hyperphosphatemia, Increased circulating... |
OMIM:601198 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Disproportio... |
ORPHA:583 |
Bardet-Biedl Syndrome 22 |
|
Microcephaly, Postaxial foot polydactyly, Polydactyly, Hypogonadism, Macrocephaly |
OMIM:617119 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bod... |
OMIM:619451 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Brachycephaly, Sparse hair, Parietal bossing, Spina bifida, H... |
OMIM:234100 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, T lymphocytopeni... |
ORPHA:508533 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p... |
OMIM:614815 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Distal Deletion 13Q |
|
Encephalocele, Short stature, Microcephaly, Anencephaly, Optic atrophy, Aplasia/Hypoplasia of the... |
ORPHA:1590 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Hemivertebrae, Short neck |
ORPHA:1780 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5th finger, Narro... |
OMIM:239800 |
Pentalogy Of Cantrell |
|
Omphalocele, Encephalocele, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Hydroce... |
ORPHA:1335 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Broad nasal tip, Bifid nasal tip, Parietal foramina, Preaxial polydact... |
OMIM:603671 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, P... |
OMIM:227330 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Aqueductal ... |
ORPHA:3035 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Wide nasal bridge |
ORPHA:3366 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Diastasis recti, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of... |
ORPHA:231140 |
Pelger-Huet Anomaly |
|
Frontal bossing, Depressed nasal bridge, Abnormality of neutrophils, Thrombocytopenia, Hyposegmen... |
OMIM:169400 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
Cleidocranial Dysplasia |
|
Micrognathia, Brachycephaly, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of ... |
ORPHA:1452 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... |
OMIM:619698 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact... |
ORPHA:1788 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Microcephaly, Postnatal growth retardati... |
OMIM:615419 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Underdeveloped na... |
OMIM:601224 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, ... |
ORPHA:1606 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased body weight, Growth delay, Anemia |
OMIM:614450 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e... |
ORPHA:1784 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Short stature, Coxa valga, Micrognathia, Microcephaly, Hydrocephalus, Pla... |
OMIM:619833 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... |
OMIM:612284 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteri... |
OMIM:618316 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Ramon Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Failure to thrive, Abnormal dent... |
ORPHA:3019 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Microcephaly, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... |
ORPHA:163654 |
Triploidy |
|
Omphalocele, Finger syndactyly, Intestinal malrotation, Non-midline cleft lip, Hydrocephalus, Men... |
ORPHA:3376 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Clinodactyl... |
OMIM:268305 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Pectus carinatum, Hypoplas... |
ORPHA:958 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Short stature, Abnormal thumb morpholog... |
ORPHA:1597 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Micromelia, Micrognathia, Short neck, Metaphyseal widening, Narrow greater sciatic notch, Narrow ... |
OMIM:224400 |
Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Elevated circulating creatine ki... |
OMIM:619473 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Posteriorly rotated ears, Short stature, Bulbous nose, Wide nasal bridge, Growt... |
OMIM:613604 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Cerebral calcification, Short stature, Abnormal antihelix morphology, Delayed puberty, Conductive... |
ORPHA:3145 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Pallister-Hall Syndrome |
|
Large for gestational age, Depressed nasal ridge, Hemivertebrae, Holoprosencephaly, Atrial septal... |
ORPHA:672 |
Smith-Kingsmore Syndrome |
|
Frontal bossing, Rhizomelia, Depressed nasal bridge, Large for gestational age, Short proximal ph... |
OMIM:616638 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Microcephaly, Underdeveloped nasal alae |
OMIM:601355 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Short neck, Short statur... |
OMIM:619859 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Short thorax, Genu valgum, Reduced bone mineral density, Short nose, Spina ... |
ORPHA:2983 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Omphalocele, Congenital diaphragmatic... |
ORPHA:887 |
Caudal Duplication |
|
Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal ... |
ORPHA:1756 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short th... |
OMIM:600325 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormal... |
ORPHA:2549 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Anteverted nares, Sensorineural hearing impairment, Depressed nasal ridge, Thick corpus callosum,... |
OMIM:618672 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Depressed nasal ridge... |
OMIM:608022 |
Microphthalmia, Syndromic 3 |
|
Frontal bossing, Vertebral fusion, Ventricular septal defect, Short stature, Missing ribs, Microc... |
OMIM:206900 |
Acrofacial Dysostosis, Catania Type |
|
Single transverse palmar crease, Microcephaly, Carious teeth, Cryptorchidism, Widow's peak, Short... |
OMIM:101805 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... |
OMIM:617952 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Accelerated skeletal maturation, Pectus carinatum, Vertebral segmentation defect, Narrow greater ... |
OMIM:312870 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Carpenter Syndrome 1 |
|
Omphalocele, Depressed nasal bridge, Abnormal pinna morphology, Short stature, Sensorineural hear... |
OMIM:201000 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Thrombo... |
OMIM:194350 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Proximal fe... |
OMIM:113500 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Micrognathia, ... |
OMIM:616038 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Synophrys, Brachycephaly, Anteverted nares, Depressed nasal bridge, H... |
OMIM:613792 |
Aural Atresia, Congenital |
|
Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Small for gestational age, Short stature, Prominent nose, Microcephaly, Postnatal gr... |
OMIM:609625 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality of the hand, Short nec... |
ORPHA:369891 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Phocomelia, A... |
OMIM:268300 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Severe short stature, Joint stiffness, Talipes, Coxa valga, Me... |
ORPHA:2557 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Bilateral single transverse palmar creases, Short stature, ... |
ORPHA:1786 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Anteverted nares, Posteriorly rotated ears, Short stature, Broad nas... |
OMIM:618529 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... |
ORPHA:474 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Cleft palate, Tooth agenesis, Ectrodactyly, Clinodactyly |
OMIM:147950 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia |
OMIM:241520 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Reduced cerebral white matter volume, Bulbous nose, Cerebral atrophy, Hypoplasi... |
OMIM:616420 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Short neck, Kyphosis, Delayed skeletal mat... |
OMIM:608776 |
Pai Syndrome |
|
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula |
ORPHA:1993 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Johnson Neuroectodermal Syndrome |
|
Severe short stature, Choanal atresia, Facial palsy, Microcephaly, Bulbous nose, Anosmia, Protrud... |
ORPHA:2316 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Mitral valve prolapse, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis ... |
ORPHA:90653 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Microcephaly, Delayed skeletal ... |
ORPHA:544503 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Contracture of the... |
ORPHA:83617 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Aspleni... |
ORPHA:99776 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Ankle flexion contracture, Microcephaly, Cerebral atrophy, Progressive mi... |
OMIM:617802 |
Rhiny |
|
Short nose, Anteverted nares, Inguinal hernia |
OMIM:180360 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Small for gestational age, Posteriorly rotated ears, Short stature, Decreased bo... |
OMIM:618392 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Trigonocephaly 1 |
|
Omphalocele, Short nose, Wide nasal bridge, Microcephaly |
OMIM:190440 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus excavatum, Kyphosis,... |
OMIM:616294 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal... |
ORPHA:83 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Zechi-Ceide Syndrome |
|
Wide nose, Cerebellar vermis hypoplasia, Wide nasal bridge, Abnormal earlobe morphology, Microtia... |
ORPHA:217017 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Short stature |
OMIM:601076 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... |
ORPHA:233 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Deep philtrum,... |
OMIM:612530 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Congenital diaphragmatic hernia, Hydrocepha... |
OMIM:616546 |
Fanconi Anemia, Complementation Group G |
|
Microcephaly, Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Multiple cafe-au-lait spo... |
OMIM:614082 |
Distal Duplication 15Q |
|
Omphalocele, Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Intrauterine growth r... |
ORPHA:1707 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Cerebral calcification, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Choanal atresia, Hydrocephalus, Optic atrophy, Conductive h... |
ORPHA:93262 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Abnormal upper limb epiphysis morphology, Multiple small vertebral fractures, Delayed ... |
ORPHA:93311 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, Co... |
OMIM:618774 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo... |
ORPHA:93473 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Atri... |
OMIM:607872 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Depressed nasal ridge, Communicating hydrocephalus, Short stature |
ORPHA:1861 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Short stature, Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Ab... |
ORPHA:3218 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario... |
OMIM:617102 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Microcephaly, Micrognathia, Kyphosis, Scoliosis, Delayed puberty, Short nose, Anemia |
ORPHA:2598 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment |
ORPHA:3246 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Depressed nasal bridge, Anteverted... |
OMIM:618454 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural ... |
ORPHA:2789 |
Cohen Syndrome |
|
Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short metatarsal, Leukopenia, ... |
OMIM:216550 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Sh... |
ORPHA:436 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo... |
OMIM:617405 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Tapered finger, Short neck, Wide n... |
OMIM:607131 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Depressed nasal bridge, Sandal gap, Tapered finger, Accelerated skeletal maturat... |
OMIM:618430 |
Anauxetic Dysplasia 3 |
|
Femoral bowing, Narrow chest, Trident hand, Short metacarpal, Depressed nasal bridge, Thoracolumb... |
OMIM:618853 |
Crouzon Syndrome |
|
Choanal atresia, Hydrocephalus, Optic atrophy, Conjunctivitis, Cerebellar hypoplasia, Conductive ... |
ORPHA:207 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Nail-Patella Syndrome |
|
Ridged nail, Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horn... |
OMIM:161200 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft palate, Finger joint hypermobility, Cleft upper lip |
OMIM:244200 |
Harel-Yoon Syndrome |
|
Frontal bossing, Micrognathia, Talipes equinovalgus, Pectus carinatum, Hypertrophic cardiomyopath... |
OMIM:617183 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia o... |
OMIM:620155 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... |
OMIM:618618 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature, EEG abnormality, Shor... |
ORPHA:99688 |
Edinburgh Malformation Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Accelerated skeletal maturation... |
ORPHA:1895 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Posteriorly rotated ears, Choanal atresia, Congenital diaphragmatic hernia, Mo... |
OMIM:613309 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cerebral calcification, Depressed nasal bridge, Short stature, Basal ganglia calcific... |
ORPHA:79443 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Partial albinism, Camptodactyly of finger, Prominent nas... |
OMIM:148820 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Frontal bossing, Broad long bones, Absent vertebral body ... |
OMIM:200610 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Mesomelic/rhizom... |
ORPHA:2347 |
Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Hypoplastic scapulae, Femoral retroversion, Cleft upper lip |
OMIM:607371 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Decreased serum iron, Broad nasal tip, Overweight, Recurrent upper res... |
ORPHA:391372 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho... |
ORPHA:157965 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Single transverse palmar crease, Prominent nose, Micrognathia, Cl... |
OMIM:210600 |
Distal Deletion 10P |
|
Non-midline cleft lip, Abnormality of the elbow, Cleft palate, Ectopic anus, Clinodactyly of the ... |
ORPHA:1580 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Pectus excavatu... |
OMIM:617137 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Sandal gap, Anteverted nares, Microcephaly, Obesity, Brachycephaly, Dolic... |
OMIM:617752 |
Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormal thorax morphology, Osteoporosis, Abno... |
ORPHA:2583 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Depressed na... |
OMIM:617061 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... |
OMIM:271640 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment, Short stature |
OMIM:132450 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Accelerated skeletal maturation, Narrow chest, Neonatal short-limb short stature, D... |
ORPHA:50945 |
Isolated Hemihyperplasia |
|
Inguinal hernia, Myelomeningocele, Abnormality of the dentition |
ORPHA:2128 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ... |
ORPHA:53271 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... |
ORPHA:93360 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp... |
OMIM:609325 |
Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Increased... |
OMIM:241500 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, Abnormal tibia morphology, Foot oligodactyly, Radial bowing... |
ORPHA:2879 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Rocker bottom foot, Trigonocephaly, Microcephaly, Ventricular septal defect, Cl... |
OMIM:618506 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... |
OMIM:614732 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Microcephaly, Delayed skeletal maturation, Abnormal rib morphology, Abnorma... |
ORPHA:2643 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, White eyelashes, Partial albinism, White eyebrow, Spina bifida, Underdevel... |
OMIM:193500 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Patent ductus ar... |
ORPHA:261120 |
Campomelic Dysplasia |
|
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Tetrasomy 5P |
|
Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Pectus excavatum, Long fingers, Hy... |
ORPHA:3309 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, Short phalanx of finger, Dislocated radial head, Joint... |
OMIM:612350 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... |
OMIM:210720 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Ta... |
ORPHA:46059 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Narrow chest, Abnormality o... |
ORPHA:95699 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Autoimmune Hypoparathyroidism |
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Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic ... |
ORPHA:36913 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
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Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of ... |
ORPHA:73230 |
Craniofacial-Deafness-Hand Syndrome |
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Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Sensorine... |
ORPHA:1529 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Pes planus, Short femur, Depressed nasal bridge, Talipes, Short stature, Micrognathia, Short neck... |
OMIM:300990 |
Omphalocele |
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Omphalocele |
ORPHA:660 |
Griscelli Syndrome, Type 2 |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
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Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones... |
OMIM:620269 |
Postaxial Acrofacial Dysostosis |
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Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... |
ORPHA:246 |
Terminal Osseous Dysplasia |
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Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Narrow nasal bridge, Flat occiput, Anteverted nares, Overlapping toe, Delayed skeletal maturation... |
OMIM:619383 |
Coffin-Siris Syndrome 6 |
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Posteriorly rotated ears, Depressed nasal bridge, Short stature, Broad nasal tip, Low-set ears, C... |
OMIM:617808 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Apert Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cervical C5/C6 vertebrae fusi... |
ORPHA:87 |
Neuronal Intranuclear Inclusion Disease |
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Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Syndactyly, Depressed nasal bridge, Hydrocephalus, Progressive macrocephaly, Polydactyly, Leukemia |
OMIM:602501 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micr... |
ORPHA:536471 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Joint laxity, Limited elbow extension and supination, Truncus arteriosus, Prominent nasal bridge,... |
ORPHA:401935 |
Osteogenesis Imperfecta, Type Viii |
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Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
Isolated Anencephaly/Exencephaly |
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Anencephaly |
ORPHA:1048 |
Baraitser-Winter Syndrome 1 |
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Anteverted nares, Bicuspid aortic valve, Short stature, Microcephaly, Short neck, Postnatal growt... |
OMIM:243310 |
Mucopolysaccharidosis, Type Iiia |
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Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Mesomelic Dysplasia, Nievergelt Type |
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Micromelia, Abnormal tibia morphology, Brachycephaly, Clinodactyly of the 5th finger, Abnormality... |
ORPHA:2633 |
Caudal Regression Syndrome |
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Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ... |
ORPHA:3027 |
Trichorhinophalangeal Syndrome, Type Iii |
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Osteopenia, Short metacarpal, Short stature, Underdeveloped nasal alae, Avascular necrosis of the... |
OMIM:190351 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Postnatal growth retardation, Small hand, Obesity, Short foot, Scoliosis, Intrauterine growth ret... |
ORPHA:254531 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Diamond-Blackfan Anemia 6 |
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Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Bifid uvula |
OMIM:612561 |
Short-Rib Thoracic Dysplasia 12 |
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Omphalocele, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, Splenomegaly, ... |
OMIM:269860 |
Ellis-Van Creveld Syndrome |
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Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Richieri Costa-Da Silva Syndrome |
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Joint dislocation, Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of ... |
ORPHA:3101 |
Genitopalatocardiac Syndrome |
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Cleft palate, Cleft upper lip |
OMIM:231060 |
Robinow Syndrome, Autosomal Dominant 2 |
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Micrognathia, Calvarial osteosclerosis, Anteverted nares, Depressed nasal bridge, Short stature, ... |
OMIM:616331 |
Kenny-Caffey Syndrome, Type 2 |
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Transient hypophosphatemia, Papilledema, Severe short stature, Small for gestational age, Short s... |
OMIM:127000 |
Bruck Syndrome 2 |
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Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Femoral bowing, Pectus... |
OMIM:609220 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Hemivertebrae, Atrial septal defect, Lumbar hyperlordosis, Arachnodactyly, Depressed nasal bridge... |
ORPHA:500150 |
Pontine Tegmental Cap Dysplasia |
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Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive |
OMIM:614688 |
Opitz-Kaveggia Syndrome |
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Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... |
OMIM:305450 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
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Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Microg... |
ORPHA:2083 |
Braddock Syndrome |
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Short stature, Short neck, Pectus excavatum, Missing ribs, Preaxial hand polydactyly, Hemivertebr... |
ORPHA:52047 |
Limb-Mammary Syndrome |
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Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Marshall Syndrome |
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Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Endosteal Hyperostosis, Autosomal Dominant |
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Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... |
OMIM:144750 |
Mucopolysaccharidosis, Type Iiib |
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Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
Malignant Hyperthermia, Susceptibility To, 3 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:304120 |
Shwachman-Diamond Syndrome 1 |
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Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... |
OMIM:260400 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
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Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Clef... |
OMIM:239300 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Slender long bone, Inguinal hernia, Cleft palate, Cleft upper lip |
ORPHA:96181 |
Periventricular Nodular Heterotopia 7 |
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Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
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Thin upper lip vermilion, Tented upper lip vermilion, Rocker bottom foot, Single transverse palma... |
OMIM:618622 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Osteopenia, Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Restrictive cardiom... |
OMIM:615398 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
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Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis |
OMIM:618155 |
Mesomelia-Synostoses Syndrome |
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Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Richieri-Costa/Guion-Almeida Syndrome |
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Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morp... |
OMIM:268850 |
Monosomy 9Q22.3 |
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Large for gestational age, Palmar pits, Pectus excavatum, Hydrocephalus, Plantar pits, Abnormal r... |
ORPHA:77301 |
Hogue-Janssen Syndrome 2 |
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Broad hallux, Anteverted nares, Postaxial polydactyly, Microcephaly, Abnormal hair whorl, Hydroce... |
OMIM:616362 |
Jacobsen Syndrome |
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Short neck, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Broad columella, ... |
ORPHA:2308 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Osteopenia, Flat occiput, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, Clin... |
ORPHA:251028 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Congenital malformation of the left heart, Hypoplastic vertebral bodies, Agenesis of ... |
ORPHA:3455 |
Trisomy 1Q |
|
Omphalocele, Wide nose, Depressed nasal bridge, Camptodactyly of finger, Congenital diaphragmatic... |
ORPHA:261344 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
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Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Microphthalmia, Isolated 4 |
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Postaxial polydactyly |
OMIM:613094 |
Marshall-Smith Syndrome |
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Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
Albers-Schönberg Osteopetrosis |
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Joint dislocation, Frontal bossing, Abnormal leukocyte morphology, Osteomyelitis, Short stature, ... |
ORPHA:53 |
Thoracoabdominal Syndrome |
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Omphalocele, Ventral hernia, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:313850 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Prominent nose, Micrognathia, Depressed nasal ridge, Brachycephaly, Hemivertebrae, Short palm, Cl... |
OMIM:156200 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Joint dislocation, Coarse metaphyseal trabecularization, Short stature, Osteomalacia, Recurrent f... |
ORPHA:93160 |
Bartsocas-Papas Syndrome |
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Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... |
ORPHA:1234 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Microcephaly, Short Stature, And Limb Abnormalities |
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11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Delayed skeletal ... |
OMIM:617604 |
Brachydactyly Type E |
|
Frontal bossing, Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the... |
ORPHA:93387 |
Ciliary Dyskinesia, Primary, 38 |
|
Bronchiectasis, Rhinitis, Conductive hearing impairment, Chronic sinusitis, Chronic otitis media |
OMIM:618063 |
Perlman Syndrome |
|
Inguinal hernia, Anteverted nares, Posteriorly rotated ears, Femoral hernia, Wide nasal bridge, L... |
ORPHA:2849 |
Peho-Like Syndrome |
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Short nose, Progressive microcephaly, Tapered finger |
OMIM:617507 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia |
ORPHA:85174 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, ... |
ORPHA:1225 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic iliac wing, Short phalanx of finger, Inferiorly positioned umbilicus, Syndactyly, Sho... |
OMIM:263650 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Short stature, Congenital diaphragmatic hernia, Micr... |
OMIM:300887 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Absent frontal sinuses, Hemivertebrae, Anteverted nares, Depressed nasal bridge, Tapered finger, ... |
OMIM:301040 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Short stature, Hypoplasia of the pons, Sensorineural he... |
OMIM:616430 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,... |
OMIM:600081 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Asymmetry of the ears, EEG with burst supp... |
OMIM:619124 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Non-midline cleft lip, Hypoplasia of the radius, Cleft palate, W... |
ORPHA:245 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology |
ORPHA:166100 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... |
OMIM:276820 |
Chops Syndrome |
|
Short stature, Obesity, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Micrognathia, Mic... |
ORPHA:363528 |
Xylt1-Cdg |
|
Relative macrocephaly, Pes planus, Joint dislocation, Joint laxity, Short stature, Coxa valga, Mi... |
ORPHA:370930 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Frontal bossing, Dysmenorrhea, Micrognathia, Cryptorchidism, S... |
ORPHA:397590 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb |
ORPHA:60015 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Small for gestational age, Short stature, Pos... |
ORPHA:3369 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus hernia, Abnormali... |
ORPHA:2538 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Microcephaly, Brachycephaly, Tra... |
ORPHA:1913 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Microcephaly, Brachycephaly, Genu valgum, Growth delay, P... |
OMIM:617798 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cerebral calcification, Depressed nasal bridge, Short stature, Basal ganglia calcific... |
ORPHA:79444 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Proportionate short stature, Short neck, Pectus excavatum, ... |
OMIM:609654 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger, Lateral ventricle dilata... |
OMIM:618367 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Accelerated skelet... |
ORPHA:561 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... |
OMIM:619142 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence o... |
ORPHA:476126 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ... |
OMIM:217980 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Highly arched eyebrow, Microcephaly, Synophrys, Polyda... |
ORPHA:313781 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Small for gestational age, Microcephaly, Recurrent upper respiratory t... |
ORPHA:3078 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Recurrent fractures, Micromelia, Microcephaly, Abnormal rib morphology... |
ORPHA:2772 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormal rib morphology, Abnorm... |
ORPHA:1834 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Hypercholesterolemia, Microcephal... |
ORPHA:819 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment |
OMIM:174810 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Lateral clavicle hook, Splenomegaly, Postaxial hand pol... |
OMIM:615630 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Prominent nasal bridge, Short ... |
OMIM:618885 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal... |
ORPHA:3068 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Obesity, Hip dysplasia, Clinodactyly of the 5th f... |
OMIM:617991 |
Osteogenesis Imperfecta, Type Xiii |
|
Femoral bowing, Pectus carinatum, Enlarged thorax, Reduced bone mineral density, Dislocated radia... |
OMIM:614856 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Frontal bossing, Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morpholo... |
ORPHA:1506 |
Abruzzo-Erickson Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia, Short stature |
ORPHA:921 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
Meier-Gorlin Syndrome 6 |
|
Severe short stature, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underde... |
OMIM:616835 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... |
OMIM:182212 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Larsen-Like Syndrome |
|
Short stature, Wide anterior fontanel, Recurrent otitis media, Absent nasal bridge, Low-set ears,... |
OMIM:608545 |
Mosaic Trisomy 8 |
|
Micrognathia, Short neck, Vertebral segmentation defect, Narrow chest, Clinodactyly of the 5th fi... |
ORPHA:96061 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro... |
OMIM:154400 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydac... |
OMIM:617895 |
20Q11.2 Microduplication Syndrome |
|
Sacral dimple, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Trigonocephaly,... |
ORPHA:363659 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Microcephaly, Patent ductus arteriosus, Flexion contracture, Growth d... |
ORPHA:17 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis, Macrocephaly, Short nose |
ORPHA:2429 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Microcytic anemia, Depressed nasal ridge, Conductive hearing impairment, Sm... |
ORPHA:99843 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Single transverse palmar crease, Thick lower lip vermi... |
OMIM:618950 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Bilater... |
OMIM:180849 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures... |
OMIM:610968 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Short stature, Optic atrophy, Simplified gyral pattern, Cer... |
OMIM:614261 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Abnormality of skin pigmentation, Leukopenia, Triphalang... |
ORPHA:84 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotransposition of t... |
OMIM:306955 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Depressed nasal bridge, Short stature, Hyperphosphatemia, Conjunctivitis, Hypocalcemi... |
ORPHA:94089 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral ... |
ORPHA:1787 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Tapered finger, Micrognathia, Short neck, Partial agenesis of the corpus callosu... |
OMIM:620250 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Short neck, Adducted thumb, Secondary microcephaly, Short nose, Fai... |
ORPHA:50810 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplates, Fractures ... |
OMIM:166600 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Temple Syndrome |
|
Short stature, Small for gestational age, Postnatal growth retardation, Small hand, Obesity, Shor... |
ORPHA:254516 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Short stature, Microcephaly, Hydrocephalus, Short nose,... |
OMIM:300558 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,... |
ORPHA:1355 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... |
OMIM:113650 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, External ear ... |
ORPHA:254346 |
Renpenning Syndrome |
|
Severe short stature, Cachexia, Prominent nose, Pectus excavatum, Abnormal thumb morphology, Micr... |
ORPHA:3242 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Splenome... |
OMIM:608149 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Microcephaly, Postnatal growth retardation, T... |
ORPHA:93324 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Highly arched eyebrow, Microcepha... |
OMIM:618142 |
Jacobsen Syndrome |
|
Flat occiput, Micrognathia, Short neck, Flexion contracture, Holoprosencephaly, Atrial septal def... |
OMIM:147791 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, Abnormal form of the vertebral bodies, Short palm, Synostosis of carpal bon... |
ORPHA:3238 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Long fingers, Flexion contracture, Wide nasal bridge, 2-3 toe syndactyly, Brachyc... |
OMIM:218000 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... |
OMIM:101600 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft upper lip, Hydr... |
OMIM:612582 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Epiphyseal stippling, Coarse hair... |
OMIM:118650 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Short stature, Microcephaly, Overfolded helix, Microtia, Atres... |
OMIM:610536 |
Culler-Jones Syndrome |
|
Cleft palate, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy... |
OMIM:200980 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebr... |
OMIM:105650 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebra... |
OMIM:230500 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Hypoplasia of ... |
OMIM:607014 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Narrow palm, Small hand, Short foot, Abn... |
ORPHA:177910 |
Malan Syndrome |
|
Coxa valga, Pectus excavatum, Long fingers, Accelerated skeletal maturation, Scoliosis, Macroceph... |
OMIM:614753 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... |
ORPHA:363417 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Death in infancy, Sparse scalp hair, Frontal bossing,... |
OMIM:615789 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Small for gestational age, Posteriorly rotated ears, Short stature, Wide nasal b... |
OMIM:314320 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Depressed nasal bridge, Anteverted nares, Elevated circulating creatine kinase concentration, Mic... |
OMIM:619743 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Atrial septal defect, Short stature, Kyphoscoliosis, Microcephaly, Patent ductus arte... |
OMIM:618005 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Microcephaly, Wide nasal bridge, Growth delay, Large earlobe, Short nose, Thin c... |
OMIM:615716 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Simplified ... |
OMIM:618828 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora... |
OMIM:615633 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Short metacarpal, Short stature, Postnatal growth ret... |
OMIM:616651 |
Acrootoocular Syndrome |
|
Small for gestational age, Short stature, Microcephaly, Grayish enamel, Sensorineural hearing imp... |
ORPHA:2980 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... |
OMIM:151050 |
Weaver Syndrome |
|
Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Accelerated skeletal matu... |
OMIM:277590 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Orofacial cleft |
ORPHA:77300 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Meningocele, Patellar hypoplasia, Wide mouth, Talipes equinovaru... |
ORPHA:1827 |
Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Short stature, Microcephaly, Bulbous nose, Wide nasal bridge, ... |
ORPHA:502 |
Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Sandwich appearance of vertebral bodies, Increased bone mineral density, Femur f... |
OMIM:259700 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Short statu... |
OMIM:615503 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Prominent nasal bridge, Microcephaly, Sensorine... |
ORPHA:1131 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger |
OMIM:181180 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Depressed nasal bridge, Short stature, Abnormal auditory evoked potentials, Se... |
OMIM:619260 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Diastasis recti, Large for gestational age, Postnatal gro... |
ORPHA:254534 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe s... |
OMIM:264480 |
Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... |
ORPHA:94080 |
Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Non-midline cleft lip, Hydrocephalus, Cleft palate, Downturned corner... |
ORPHA:2075 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia |
OMIM:616025 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Frontal bossing, Atrial septal defect, Arachnodactyly, Sandal gap, Joint hypermobilit... |
OMIM:617602 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Dental crowding, Narrow mouth, Cleft palate, Oligodontia, T... |
ORPHA:251019 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Arachnodactyly, Brachycephaly... |
OMIM:615539 |
Shox-Related Short Stature |
|
Short stature, Micrognathia, Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, ... |
ORPHA:314795 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Raine Syndrome |
|
Micromelia, Micrognathia, Short neck, Brachycephaly, Choanal stenosis, Neonatal death, Long hallu... |
OMIM:259775 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Finger syndactyly, Alopecia, Toe syndactyly, Abnormal palmar dermatoglyphics... |
ORPHA:2092 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... |
OMIM:252600 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Prominent nasal bridge, Joint hypermobility, Microcephaly, Long nose, Joint sti... |
OMIM:619184 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S... |
ORPHA:93384 |
Gm1 Gangliosidosis Type 1 |
|
Frontal bossing, Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Pectus carinatum, Hypop... |
ORPHA:79255 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Small for gestational age, Depressed nasal bridge, Anteverted nares, Micrognathia, Mic... |
OMIM:257300 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridg... |
OMIM:610015 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Small for gestational age, Broad hallux, Short neck, Postnatal growth re... |
OMIM:614541 |
Holoprosencephaly 7 |
|
Omphalocele, Flat nasal alae, Alobar holoprosencephaly, Microcephaly, Partial agenesis of the cor... |
OMIM:610828 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Depressed nasal ridge, Absent nares, ... |
ORPHA:2162 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... |
OMIM:617866 |
3Mc Syndrome 1 |
|
Omphalocele, Dental crowding, Single interphalangeal crease of fifth finger, Diastasis recti, Cle... |
OMIM:257920 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteoscl... |
OMIM:300373 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Genetic Recurrent Myoglobinuria |
|
Myositis, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Omphalocele, Posteriorly rotated ears, Small for gestational age, Diastasis rec... |
OMIM:618419 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate |
ORPHA:217 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Overlapping toe, Short stature, Short neck, Pectus excavatum,... |
OMIM:618571 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Large for gestational age, Coxa v... |
OMIM:239850 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short nose, Hearing impairment |
OMIM:619736 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Omphalocele, Camptodactyly of finger, Microcephaly, As... |
OMIM:249000 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Abnormal pinna morphology, Absent septum pellucidum, Abnormal cort... |
OMIM:236680 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathia, ... |
OMIM:619135 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Overriding aorta, Ventricular septal defect, Micrognathia, Short ... |
OMIM:617022 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Epiphyseal dysplasia, Short stature, Postnatal growth... |
ORPHA:353298 |
Mandibulofacial Dysostosis With Alopecia |
|
Cupped ear, Wide nasal bridge, Protruding ear, Microtia, Low-set ears, Conductive hearing impairm... |
OMIM:616367 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Prominent metopic ridge, Thoracolu... |
OMIM:616580 |
Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly o... |
ORPHA:2710 |
3Mc Syndrome 3 |
|
Diastasis recti, Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clin... |
OMIM:248340 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Osteopenia, Small hypothenar eminence, Wide nose, Arachnodactyly, Joint hyperm... |
ORPHA:2463 |
Neu-Laxova Syndrome |
|
Micromelia, Microcephaly, Abnormal eyelash morphology, Abnormal hair morphology, Spina bifida, Mi... |
ORPHA:2671 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... |
ORPHA:2010 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Short stature, Microcephaly, Hearin... |
ORPHA:1912 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... |
OMIM:135750 |
Radio-Renal Syndrome |
|
Severe short stature, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality ... |
ORPHA:3015 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Decreased hemoglobin concentration, Depressed nasal bridge, Anteverted nares, Un... |
OMIM:619005 |
Trichorhinophalangeal Syndrome Type 1 |
|
Frontal bossing, Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Avascula... |
ORPHA:77258 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Mild short stature, Short nose, M... |
OMIM:620292 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion ... |
OMIM:224690 |
Chromosome 18Q Deletion Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Failure to thrive in infancy, Short stature, Prominent n... |
OMIM:601808 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Trisomy 9P |
|
Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Impacted toot... |
ORPHA:236 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postaxial hand polydactyly, D... |
OMIM:619143 |
Alopecia Antibody Deficiency |
|
Conductive hearing impairment, Short stature |
ORPHA:1006 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar vermis, Hydrocepha... |
ORPHA:163961 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Split... |
ORPHA:2008 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finger, Choanal stenos... |
OMIM:615485 |
Vitamin D-Dependent Rickets, Type 2A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, ... |
OMIM:277440 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Pseudoepiphyses, Delayed tarsal ossification, Broad ribs, Decrea... |
OMIM:600002 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Choanal atresia, Posterio... |
OMIM:158170 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Cupped ear... |
OMIM:613870 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Micrognathia, Positional foot deformity, Pectus carinatum, Hypertrophic cardiomyopathy, Hip dyspl... |
ORPHA:496790 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Micrognathia, Short neck, Flexion contracture, Scapular winging, Wide nasal b... |
OMIM:620369 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Facial palsy, Sensorineural h... |
OMIM:614744 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Polydactyly |
OMIM:615993 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Pectus ex... |
OMIM:613458 |
Biemond Syndrome Type 2 |
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Hypogonadism, Hydrocephalus, Preaxial polydactyly, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Brachycephaly, Trichomegaly, And Developmental Delay |
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Depressed nasal bridge, Short stature, Microcephaly, Low-set ears, Conductive hearing impairment,... |
OMIM:617412 |
Abruzzo-Erickson Syndrome |
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Radioulnar synostosis, Cleft palate |
OMIM:302905 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
Pontocerebellar Hypoplasia, Type 2E |
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Wide nose, Short stature, Microcephaly, Flexion contracture, Optic atrophy, Cerebral atrophy, Lar... |
OMIM:615851 |
Cornelia De Lange Syndrome |
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Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low anterior hairli... |
ORPHA:199 |
2Q37 Microdeletion Syndrome |
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Depressed nasal bridge, Anteverted nares, Eczema, Underdeveloped nasal alae, Microcephaly, Congen... |
ORPHA:1001 |
Neu-Laxova Syndrome 1 |
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Micromelia, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... |
OMIM:256520 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Depressed nasal bridge, Anteverted nares, Abnormal cerebral white matter morphology, Low-set ears... |
OMIM:613443 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, ... |
OMIM:241530 |
Joubert Syndrome 27 |
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Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Aymé-Gripp Syndrome |
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Brachycephaly, Clinodactyly of the 5th finger, Prominent metopic ridge, Depressed nasal bridge, S... |
ORPHA:1272 |
Cranioectodermal Dysplasia 3 |
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Frontal bossing, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, S... |
OMIM:614099 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
16P13.11 Microdeletion Syndrome |
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Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Clef... |
ORPHA:261236 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ... |
OMIM:119800 |
Pseudopseudohypoparathyroidism |
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Short metacarpal, Depressed nasal bridge, Short stature, Short neck, Short metatarsal, Obesity, O... |
OMIM:612463 |
Brain Malformations With Or Without Urinary Tract Defects |
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Inguinal hernia, Anteverted nares, Overfolded helix, Low-set ears, Hypoplasia of the corpus callo... |
OMIM:613735 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Anteverted nares, Micrognathia, Microcephaly, Short distal phalanx of toe, Atrial septal defect, ... |
OMIM:619356 |
Trisomy 8P |
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Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, ... |
ORPHA:264450 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Papilledema, Short stature, Postnatal growth retardation, Basal ganglia calcification, Anemia, Gr... |
ORPHA:93325 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... |
ORPHA:1300 |
Microtia, Hearing Impairment, And Cleft Palate |
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Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
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Optic disc pallor, Short stature, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip... |
OMIM:300749 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers... |
ORPHA:2639 |
Limb Body Wall Complex |
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Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... |
ORPHA:2369 |
Popliteal Pterygium Syndrome |
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Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:300958 |
Cutis Laxa, Autosomal Recessive, Type Iia |
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Failure to thrive, Inguinal hernia, Anteverted nares, Lipodystrophy, Microcephaly, Wide anterior ... |
OMIM:219200 |
Schwartz-Jampel Syndrome |
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Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Dea... |
ORPHA:800 |
Kagami-Ogata Syndrome |
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Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Large fo... |
ORPHA:254519 |
Cardiofaciocutaneous Syndrome |
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Short neck, Biparietal narrowing, Atrial septal defect, Anteverted nares, Abnormal morphology of ... |
ORPHA:1340 |
Frank-Ter Haar Syndrome |
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Osteopenia, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial... |
OMIM:249420 |
Cadds |
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Cholangitis, Sensorineural hearing impairment, Abnormal cerebral white matter morphology, Increas... |
ORPHA:369942 |
Weiss-Kruszka Syndrome |
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Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... |
OMIM:618619 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
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Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small hand, Cleft palate, Short foot, Downtu... |
OMIM:618089 |
Stickler Syndrome, Type Ii |
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Arachnodactyly, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula |
OMIM:604841 |
Holoprosencephaly 4 |
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Semilobar holoprosencephaly, Median cleft lip, Median cleft lip and palate |
OMIM:142946 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
Auriculocondylar Syndrome 3 |
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Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment |
OMIM:615706 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
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Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... |
ORPHA:79402 |
Craniometadiaphyseal Dysplasia |
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Osteopenia, Broad long bones, Short stature, Coxa valga, Cubitus valgus, Flared metaphysis, Genu ... |
OMIM:269300 |
Robinow Syndrome, Autosomal Dominant 3 |
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Hypoplastic right heart, Micrognathia, Short neck, Short phalanx of finger, Patent foramen ovale,... |
OMIM:616894 |
Al-Raqad Syndrome |
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Joint laxity, Sandal gap, Microcephaly, Atrial septal defect, Short nose, Brachydactyly |
OMIM:616459 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Broad nasal tip, Short neck, Delayed skeletal maturation, Small hand, Abnormal rib mo... |
ORPHA:488434 |
Cleft Velum |
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Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia |
ORPHA:99772 |
Radio-Tartaglia Syndrome |
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Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, Bulbous nose, Wid... |
OMIM:619312 |
Multiple Synostoses Syndrome 4 |
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Otosclerosis |
OMIM:617898 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... |
ORPHA:544254 |
9Q21.13 Microdeletion Syndrome |
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Wide nasal ridge, Craniosynostosis, Cryptorchidism, Hip dysplasia, Syringomyelia, Polydactyly, Ve... |
ORPHA:531151 |
Agnathia-Otocephaly Complex |
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Wide nose, Holoprosencephaly, Low-set ears, Conductive hearing impairment, Agenesis of corpus cal... |
OMIM:202650 |
Kapur-Toriello Syndrome |
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Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal malrotation... |
OMIM:244300 |
Diamond-Blackfan Anemia 11 |
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Hypoplasia of the ulna, Bilateral cleft palate, Absent thumb, Unilateral radial aplasia, Hypoplas... |
OMIM:614900 |
Bardet-Biedl Syndrome 9 |
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Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... |
OMIM:615986 |
Trisomy 10P |
|
Micrognathia, Hemivertebrae, Abnormal hip joint morphology, Anteverted nares, Depressed nasal bri... |
ORPHA:171929 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Spinal dysraphism, S... |
OMIM:612918 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Severe short stature, ... |
OMIM:616482 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Frontal bossing, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Limitation of j... |
ORPHA:2547 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joi... |
OMIM:601358 |
Alkuraya-Kucinskas Syndrome |
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Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Pericardial effusion, Ab... |
OMIM:617822 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Failure to thrive, Butterfly vert... |
OMIM:118450 |
Acrocallosal Syndrome |
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Inguinal hernia, Congenital diaphragmatic hernia, Wide anterior fontanel, Sensorineural hearing i... |
ORPHA:36 |
Diabetic Embryopathy |
|
Frontal bossing, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormal sacrum morph... |
ORPHA:1926 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
Hennekam-Beemer Syndrome |
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Wide nose, Short stature, Pneumonia, Camptodactyly of finger, Microcephaly, Long nose, Conductive... |
ORPHA:2135 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Anosmia, Bronchiectasis, Chron... |
OMIM:244400 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Cleft upper lip, Rectourethral fistula, Cleft palate, ... |
OMIM:300000 |
Baker-Gordon Syndrome |
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Joint laxity, Abnormal foot morphology, Scoliosis, Prominent nasal tip, Short nose |
OMIM:618218 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Failure to thrive, Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Short stature,... |
OMIM:242860 |
Desmosterolosis |
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Micromelia, Micrognathia, Agenesis of corpus callosum, Increased bone mineral density, Depressed ... |
ORPHA:35107 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo... |
ORPHA:3253 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Diffuse cerebral atrophy, Small for gestational age, Short stature, EEG with multifocal slow acti... |
ORPHA:289266 |
Nivelon-Nivelon-Mabille Syndrome |
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Short metacarpal, Severe short stature, Distal clavicular thinning, Bell-shaped thorax, Trapezoid... |
OMIM:600092 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac wing, Atrial septal defect, Clinodactyly... |
ORPHA:2637 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Syndactyly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Small n... |
OMIM:615631 |
Campomelia, Cumming Type |
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Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib... |
ORPHA:1318 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal, Wide nasal br... |
OMIM:613328 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Short neck, Hemivertebrae, Coxa vara, Pectus carinatum, Abnormal form o... |
ORPHA:3107 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperextensibility at elbow, Rhizomelia, Short sta... |
ORPHA:319182 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Micrognathia, Congenital contracture, Secondary microcephaly, Scoliosis, Short ... |
OMIM:615042 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick cerebral cortex, Failure to thrive, Anteverted nares, Inguinal hernia, Lipodystrophy, Broad... |
ORPHA:357074 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Short nose |
OMIM:613670 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Pectus carinatum, Thick... |
OMIM:303600 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... |
OMIM:129400 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone-shaped epiphys... |
OMIM:190350 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Severe short stature, Hypercalcemia, Choanal atresia, Knee flexion contracture, ... |
OMIM:156400 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Anteverted nares, Short ... |
OMIM:613026 |
Branchio-Oculo-Facial Syndrome |
|
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis,... |
ORPHA:1297 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Macrocephal... |
ORPHA:210548 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Conductive hearing impairment... |
ORPHA:443811 |
Naxos Disease |
|
Palmoplantar keratoderma, Cleft upper lip |
ORPHA:34217 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Frontal bossing, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Sho... |
ORPHA:1278 |
Otofaciocervical Syndrome 1 |
|
Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, Conductive hearing impairment, N... |
OMIM:166780 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Postnata... |
ORPHA:254528 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Anteverted nares, Posteriorly rotated ears, Congenital diaphragmati... |
ORPHA:2745 |
Mosaic Trisomy 1 |
|
Omphalocele, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Depressed nasal bridge, Con... |
ORPHA:1692 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Postnatal growth retardation, Small hand, Obesity, Shor... |
ORPHA:96184 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Prominent nose, Short metatarsal, Short metacarpal, Rhizomelia, Cone-shaped epiphysis... |
OMIM:614813 |
Calciphylaxis |
|
Hyperphosphatemia, Cellulitis |
ORPHA:280062 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Thin cla... |
OMIM:244460 |
Specific Granule Deficiency 2 |
|
Death in infancy, Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Neutropenia,... |
OMIM:617475 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ant... |
OMIM:244450 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, ... |
OMIM:264700 |
Split Cord Malformation |
|
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Tufte... |
ORPHA:573278 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Pectus carinatum, ... |
OMIM:115150 |
Myhre Syndrome |
|
Brachydactyly, Inguinal hernia, Femoral hernia, Narrow mouth, Submucous cleft hard palate, Gingiv... |
ORPHA:2588 |
16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Abnormal pinna morphology, Camptodactyly of finger, Short stature, Long nose, B... |
ORPHA:261211 |
Waardenburg Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Myelomeningocele, Wide ... |
ORPHA:3440 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental... |
ORPHA:2750 |
Ollier Disease |
|
Micromelia, Joint stiffness, Bone pain, Osteolysis, Platyspondyly, Abnormal metaphysis morphology... |
ORPHA:296 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Hypopi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Hypopi... |
ORPHA:363958 |
Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Short stature, Coxa valga, Microcephaly, Kyphosis, Flexion contract... |
OMIM:248800 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Stenosis of the exter... |
OMIM:249620 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs... |
ORPHA:2273 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Ventricular s... |
ORPHA:2256 |
Tenosynovial Giant Cell Tumor |
|
Conductive hearing impairment, Abnormality of the tympanic membrane, Chondrocalcinosis, Abnormali... |
ORPHA:66627 |
Tetrasomy 18P |
|
Large hands, Scoliosis, Short nose, Microcephaly |
ORPHA:3307 |
Bohring-Opitz Syndrome |
|
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal... |
OMIM:605039 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... |
OMIM:212780 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, High, narrow palate, Do... |
OMIM:122470 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Abnormal h... |
ORPHA:485405 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... |
ORPHA:398063 |
Down Syndrome |
|
Joint laxity, Brachydactyly, Sandal gap, Depressed nasal bridge, Short neck, Depressed nasal ridg... |
ORPHA:870 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Increased mean platelet volume, Micrognathia, Microcephaly, Lum... |
OMIM:607330 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum ... |
OMIM:192350 |
Joubert Syndrome 37 |
|
Frontal bossing, Wide nose, Lumbar hyperlordosis, Anteverted nares, Postaxial polydactyly, Crypto... |
OMIM:619185 |
Trisomy 12P |
|
Turricephaly, Short stature, Micrognathia, Short neck, Delayed skeletal maturation, Wide nasal br... |
ORPHA:1699 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Short stature, Congenital ... |
OMIM:606164 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Sacral dimple, Lymphopenia, Patent ductus arteriosus after premature birth, Shor... |
OMIM:618460 |
Zaki Syndrome |
|
Toe syndactyly, Long fingers, Wide mouth, Median pseudocleft lip, Ectrodactyly, High palate, Broa... |
OMIM:619648 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
Ring Chromosome 13 Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Microcephaly, Anencephaly, Wi... |
ORPHA:96176 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Clinodactyly of the 5th fing... |
OMIM:614114 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Increased circulating ferritin con... |
ORPHA:3240 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... |
ORPHA:3378 |
Laron Syndrome |
|
Severe short stature, Abnormal joint morphology, Delayed skeletal maturation, Short long bone, Li... |
OMIM:262500 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment |
ORPHA:1997 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... |
ORPHA:85170 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Skin rash, Abnormal auditory evoked potentials, ... |
OMIM:617523 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Lateral displacement of th... |
OMIM:242900 |
Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia |
ORPHA:1200 |
Geleophysic Dysplasia 2 |
|
Mitral stenosis, Ovoid vertebral bodies, Tricuspid stenosis, Joint stiffness, Short stature, Dela... |
OMIM:614185 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Highly arched eyebrow, Micrognat... |
ORPHA:404440 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia |
OMIM:248390 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Microcephaly, Synophrys, Piebaldism, Hy... |
ORPHA:2884 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:613630 |
Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, Prominent nose, Micrognathia, Short neck, Clinodactyly of the 5th finger, Patent fo... |
ORPHA:177907 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Absent septum pellucidum, Small for gestational age, Microcephaly, Sensor... |
OMIM:618500 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Microcephaly, Postaxial hand polydactyly, Narrow chest, Trigonoceph... |
ORPHA:1702 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge, Microcephaly |
OMIM:200130 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... |
ORPHA:3103 |
Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Microcephaly, Underdevelop... |
OMIM:617883 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Microcephaly, Joint stiffness, Kyphosis, Pectus carinatum, Talipes equino... |
OMIM:617988 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Low-set, posteriorly rotated ears, Microcephaly, Asplenia, Hydro... |
ORPHA:564 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long... |
ORPHA:1423 |
Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... |
ORPHA:2059 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Atrial septal defect, Congenital hip dislocation, Bicuspid aortic valve, Ventric... |
ORPHA:457279 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Anteverted nares, Absent septum pellucidum, Femoral hernia, Microcephaly, Obesit... |
ORPHA:96147 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Cerebellar hypop... |
ORPHA:284169 |
Johanson-Blizzard Syndrome |
|
Short stature, Underdeveloped nasal alae, Microcephaly, Sensorineural hearing impairment, Abnorma... |
ORPHA:2315 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Sialidosis Type 1 |
|
Short stature, Kyphosis, Delayed skeletal maturation, Short thorax, Abnormal form of the vertebra... |
ORPHA:812 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Palmo... |
OMIM:106260 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydroceph... |
ORPHA:3412 |
Amish Lethal Microcephaly |
|
Death in infancy, Micrognathia, Spina bifida, Microcephaly |
ORPHA:99742 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Postaxial polydactyly, Abno... |
OMIM:302960 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... |
OMIM:227270 |
3Mc Syndrome 2 |
|
Diastasis recti, Limited elbow movement, Cleft upper lip, Partial abdominal muscle agenesis, Hip ... |
OMIM:265050 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Short stature, Rhi... |
OMIM:610682 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hydrocephal... |
OMIM:109120 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia... |
OMIM:615994 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, Microcephaly, Hydrocephalus, Aplas... |
ORPHA:2166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... |
OMIM:616788 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Microcephaly, Preaxial hand polydactyly, Short toe, Sy... |
OMIM:620072 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Tracheomalacia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal ra... |
ORPHA:444077 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Tapered finger, Hypoplas... |
ORPHA:2930 |
Ermine Phenotype |
|
Hypopigmentation of hair, Toe syndactyly, Microcephaly, Abnormality of the nose, Ocular albinism,... |
ORPHA:999 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Prominent nose, Long nose, Micro... |
ORPHA:2636 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Short nose, Hearing impairment |
OMIM:256600 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition, Patellar aplasia, Abnorma... |
ORPHA:96167 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormality o... |
ORPHA:3130 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Clinodactyly, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Short stature, Microcephaly, Micrognathia, Joint stiffness, Vertebral segmentat... |
ORPHA:1915 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... |
ORPHA:2215 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Clinodactyly, Cleft palate |
OMIM:614838 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly |
OMIM:613819 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Mitral stenosis, Coxa valga, P... |
OMIM:231050 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi... |
OMIM:600383 |
Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Umbilical hernia, Aplasia/Hypoplasia of the nasal bone, Short stature |
ORPHA:2095 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of the skin |
ORPHA:2786 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Depressed nasal bridge, Pectus excavatum, Long nose, Hydrocephalus, Slender long bone... |
OMIM:618590 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis |
OMIM:601389 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Hyperpigmentation of the skin, Microcephaly, Thrombocytopenia, Leukopenia... |
OMIM:619151 |
Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Micrognathia, Thin ribs, Plagiocephaly, Slender long bone, Decre... |
OMIM:618265 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Short stature, Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia |
ORPHA:3004 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Short metatarsal, 2-3 toe sy... |
ORPHA:1540 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Otosclerosis, Wide nose, Papilledema, Inguinal hernia, Short stature... |
ORPHA:580 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypogonadism, Hypo... |
OMIM:615996 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Desmosterolosis |
|
Relative macrocephaly, Frontal bossing, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, M... |
OMIM:602398 |
Dent Disease 2 |
|
Umbilical hernia, Short stature, Elevated circulating creatine kinase concentration, Hypophosphat... |
OMIM:300555 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormali... |
ORPHA:3186 |
Frontorhiny |
|
Encephalocele, Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, A... |
ORPHA:391474 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Asplenia, Hydrocephalus, Bronchiectasis, Nasal congestion, Recurrent otitis medi... |
ORPHA:244 |
Distal Deletion 9P |
|
Short neck, Wide nasal bridge, Enlarged thorax, Trigonocephaly, Short nose, Midface retrusion, Br... |
ORPHA:1642 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fi... |
OMIM:617527 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Single ... |
ORPHA:521426 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Short nose |
OMIM:145420 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... |
ORPHA:3265 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Kinsship Syndrome |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Short neck, Dislocated radial head, De... |
OMIM:619297 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 finger syndactyly, Pre... |
OMIM:164200 |
Toriello-Carey Syndrome |
|
Short stature, Micrognathia, Microcephaly, Short neck, Patent ductus arteriosus, Partial agenesis... |
ORPHA:3338 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Papilledema, Inguinal hernia, Camptodactyly of finger, Short stature, Sp... |
ORPHA:217093 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares, Short stature,... |
ORPHA:2510 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus, Cardiomegaly |
OMIM:620306 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Frontal bossing, Turricephaly, Sacral dimple, Tapered finger, Microcephaly, Hy... |
OMIM:613603 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment |
OMIM:607634 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Cryptorchidism, Melanocytic nevus, Patchy alopecia, Hemiatrophy, Scoliosis |
ORPHA:2874 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Choanal stenosis, Broad ri... |
ORPHA:798 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Cleft upper lip, Long fingers, Cleft palate, Thin ve... |
OMIM:614294 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Microcephaly, Postnatal growth retardation, Flexion contracture, Br... |
OMIM:614222 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod... |
OMIM:305600 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Anteverted nares, Broad hallux, Single transverse palmar crease, Depressed nasal... |
OMIM:614105 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Frontal bossing, Short stature, Osteomalacia, Bowing of the legs, O... |
OMIM:307800 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Choanal atresia, Abnormali... |
ORPHA:261112 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Microcephaly, Anemia, Leukopenia, Microtia, Conductive hearing impairme... |
OMIM:603467 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Abnormal nasopharynx morphology, Mixed hearing impairment, Facial palsy, Optic atrophy, Wide nasa... |
OMIM:218400 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... |
OMIM:252940 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Lo... |
OMIM:615866 |
Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Pneumonia, Glomerulonephritis, Leukocytosis, Elevated circulating creatinine concentra... |
ORPHA:340 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Short stature, Prominent crus of helix, External ... |
ORPHA:794 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Short stature, Micrognathia, Short neck, Secundum atrial septal defe... |
OMIM:608779 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Thick nasal alae, Agenesis of corpus callosum, Joint laxity, Depressed nasa... |
ORPHA:1465 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wid... |
OMIM:207410 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, K... |
OMIM:231070 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Inguinal hernia, High palate, Cleft palate |
ORPHA:1135 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He... |
ORPHA:2031 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Inguinal hernia, Thickened helices, Adenoiditis, Abnormality of the mid... |
ORPHA:581 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Bone... |
ORPHA:249 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Narrow nasal ridge, Micrognathia, Flexion contracture, Growth delay, Pr... |
OMIM:608612 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped na... |
ORPHA:920 |
Sclerosteosis 1 |
|
Syndactyly, Frontal bossing, Depressed nasal bridge, Sclerotic scapulae, Broad clavicles, 2-3 fin... |
OMIM:269500 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Solitary med... |
OMIM:147250 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L... |
ORPHA:2211 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Synostosis of ca... |
ORPHA:221120 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Allergic rhinitis,... |
OMIM:615816 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Micromelia, Hepatosplenomegaly |
OMIM:273680 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Cerebral calcification, Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Proboscis,... |
OMIM:605627 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing impairment, Ste... |
OMIM:608257 |
Jung Syndrome |
|
Abnormal form of the vertebral bodies |
ORPHA:2321 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Wide nasal bridge, Truncal obesity, Microtia, Recurre... |
ORPHA:529962 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Abnormal pinna morphology, Low-set ears, Polysplenia, Short nose |
OMIM:200995 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Prominent nasal bridge, Craniosynostosis, Abse... |
ORPHA:96097 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Recurrent joint dislocation, Abnormal heart valve morphology, Decreased palmar... |
ORPHA:2953 |
Momo Syndrome |
|
Frontal bossing, Short stature, Large for gestational age, Short neck, Obesity, Brachycephaly, Fe... |
ORPHA:2563 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Anteverted nares, Hydrocephalus, Polydactyly, Macrocephaly,... |
ORPHA:59315 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Wide nose, Microcephaly, Pectus excavatum, Short neck, Metaphyseal widening, Fl... |
OMIM:617303 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Mild postnatal grow... |
ORPHA:85408 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormality of the cervical spine, Small for gestational age, Single transverse palma... |
ORPHA:1708 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Tapered finger, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Short neck... |
OMIM:615803 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Van Maldergem Syndrome 2 |
|
Inguinal hernia, Depressed nasal bridge, Wide anterior fontanel, Sensorineural hearing impairment... |
OMIM:615546 |
Gomez-Lopez-Hernandez Syndrome |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Anteverted nares, Agenesis of cerebellar ... |
OMIM:601853 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short neck, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... |
OMIM:266920 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... |
ORPHA:324964 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Microcephaly, Bulbous nose, Protruding ear, Growth delay, Abnormal antihe... |
ORPHA:261144 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Microcephaly, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalang... |
OMIM:614207 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Papilledema, Inguinal hernia, Camptodactyly of finger, Short stature, Sp... |
ORPHA:217085 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Short sta... |
OMIM:301030 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Arachnodactyly, Pectus excavatum, Increased vertebral height, Scoliosis, Camptodactyly, Camptodac... |
OMIM:610474 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Enamel hypoplasia, Hyperphosphatemia |
OMIM:211900 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Short stature, Micrognathia, Microcephaly, Aplasia of the pectoralis major musc... |
ORPHA:1358 |
Vitamin D-Dependent Rickets, Type 3 |
|
Growth delay, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Asymmetry of the ears, Microcephaly, Postnatal growth retardation, Macrot... |
OMIM:614225 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature |
ORPHA:195 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Choanal atresia, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, A... |
ORPHA:2409 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, Short neck, Congenital contracture, Wrist flexion contracture, E... |
OMIM:208150 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,... |
OMIM:616738 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper lip, Abnormality of the dentiti... |
OMIM:304110 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol... |
OMIM:612563 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cerebral calcification, Posteriorly rotated ears, Facial palsy, Severe short stature, Wide nasal ... |
ORPHA:2780 |
Crouzon Syndrome |
|
Keratitis, Hydrocephalus, Optic atrophy, Conjunctivitis, Atresia of the external auditory canal, ... |
OMIM:123500 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, Microcephaly, Hydrocephalus, Flexion contracture, Limitation of... |
ORPHA:2836 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Dental crowding, Submucou... |
ORPHA:96170 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Joint contracture, Secondary micro... |
OMIM:616881 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Neurofibromatosis, Type I |
|
Inguinal freckling, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydrocephalus, Tibial ... |
OMIM:162200 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Tapered finger, Obesity, Short nose, Long hallux |
OMIM:619854 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Atrial septal defect, Agenesis of corpus callosum, Ante... |
ORPHA:261323 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Acetabular dysplasia, B... |
OMIM:201180 |
Sotos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Partial agen... |
OMIM:117550 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Osteoarthritis, Depressed nasal ridge, Bone pain, Abnormal form ... |
ORPHA:828 |
Unilateral Ocular Duplication |
|
Encephalocele, Median cleft lip, Cleft palate |
ORPHA:3374 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal no... |
ORPHA:1295 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Broad hallux, Broad nasal tip, Microcephaly, Wide nasal bridge, Shortening ... |
OMIM:614749 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High palate, Clino... |
OMIM:616730 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, De... |
ORPHA:289157 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Secondary ... |
OMIM:618437 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Bilateral choanal atresia/stenosis, Dy... |
ORPHA:314679 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thickened calvaria, Metaphyseal dysplasia, Anteverted nares, Ventricular septal defect, Short sta... |
OMIM:619727 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
Adams-Oliver Syndrome 3 |
|
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... |
OMIM:614814 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st... |
ORPHA:2249 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Short metatarsal, Short palm, Clinodactyly of the 5th finger, Short phalanx of fing... |
OMIM:170390 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Frontal bossing, Wide nose, Anteverted nares, Short stature, Cachexia, Micrognathia, Pectus excav... |
ORPHA:109 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Hypoplasia of the thymus, Arachnodactyly, Abnormal dental enamel morpho... |
ORPHA:567 |
Tarp Syndrome |
|
Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pec... |
OMIM:311900 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Brachycephaly, Pectus carina... |
ORPHA:309282 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bottom foot, Tapered finger,... |
OMIM:601353 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Short stature, Prominent nasal bridge, Choanal atresia, Sensorineural h... |
OMIM:300472 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Pierre-Robin sequence, Small hand, Cleft palate, Anteriorly placed ... |
OMIM:619980 |
Infantile Liver Failure Syndrome 1 |
|
Long toe, Frontal bossing, Macrocytic anemia, Microcephaly, Long fingers, Anemia |
OMIM:615438 |
Van Maldergem Syndrome 1 |
|
Wide anterior fontanel, Sensorineural hearing impairment, Subcortical band heterotopia, Wide nasa... |
OMIM:601390 |
Holoprosencephaly 11 |
|
Cleft lip, Holoprosencephaly, Cleft palate |
OMIM:614226 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3301 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Clinodactyly, Atrial septal defect, Broad hallux, Anteverted nares, Tapered finger, Partial anoma... |
OMIM:301044 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Vaginal hernia, Sensorineural hearing impairment, Keloids, Con... |
ORPHA:96129 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... |
ORPHA:2307 |
Fraser Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, Cleft ala nasi, Depressed nasal br... |
ORPHA:2052 |
Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Thin ribs, Decreased... |
OMIM:602361 |
Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Cleft upper lip, Alobar holoprosencephaly, Cleft palate, Lobar holo... |
OMIM:615465 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Inguinal hernia, Anteverted nares, Posteriorly rotated ears, Camptod... |
ORPHA:2462 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Omphalocele, Depressed nasal bridge, Lipodystrophy, Rhizomelia... |
ORPHA:79328 |
Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Pes planus, Abnormal morphology of ulna, Joint stiffness, Splenomega... |
ORPHA:93 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Short stature, Proximal placement of thum... |
OMIM:620113 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Hip dislocation,... |
OMIM:616507 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Genu ... |
ORPHA:2502 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Short nose |
ORPHA:1389 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Cleft palate, Narrow mouth |
ORPHA:93946 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Depressed nasal bridge, Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu... |
OMIM:301066 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Oligodontia, C... |
OMIM:601701 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand... |
OMIM:214800 |
Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Postaxial polydactyly |
OMIM:614500 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Micrognathia, Asplenia,... |
OMIM:265380 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Ob... |
OMIM:608624 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Depressed nasal bridge, Sandal gap, Pectus excavatum, Hydrocephalus, Abnormal fi... |
ORPHA:1812 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Depressed nasal bridge, Mild postnatal growth retardation, Pachygyria, Sensorineural hearing impa... |
OMIM:235510 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Brachycephaly, Depressed nasal bridge, Short stature, Tapered ... |
OMIM:309590 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Short stature, Deviation of the 2nd finger, Abnormal form of the v... |
ORPHA:1305 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Microcephaly, Anteverted ears, Multifocal epileptiform discharges, Cerebellar hypoplasia, Short nose |
OMIM:618087 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Short stature, Abnormality of the epiphysis of the femoral head, ... |
OMIM:618641 |
Treacher Collins Syndrome 2 |
|
Choanal atresia, Fusion of middle ear ossicles, Anotia, Microtia, Choanal stenosis, Conductive he... |
OMIM:613717 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Uplifted earlobe |
OMIM:300143 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Scoliosis |
OMIM:611560 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Hydrocephalus, Meningocele, Cle... |
OMIM:614424 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Mixed hearing impairment |
ORPHA:2698 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Hydrocephalus, Macrocephaly |
OMIM:603387 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum, Wide nasal bridg... |
OMIM:619179 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology, Tetralogy... |
ORPHA:276422 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Decreased p... |
ORPHA:1830 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Short stature, Microcephaly, Sensorine... |
ORPHA:2719 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Arachnodactyly, Anteverted nares, Proximal placement of thumb, Micr... |
OMIM:620370 |
Cloacal Exstrophy |
|
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... |
ORPHA:93929 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Aplasia of the nasal bone, Absent septum pellucidum, Dysplastic corpus callosum, Pro... |
OMIM:618820 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Tethered cord, Spina bifida, Tapered finger, Broad nasal tip, Wide nasal bridge,... |
OMIM:619480 |
Scarf Syndrome |
|
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hype... |
ORPHA:3134 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal pha... |
OMIM:612938 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Brachycephaly, Irregular vertebral endplates, Posterior scalloping of vertebral bodie... |
OMIM:610442 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Thrombocytopenia, Patent ductus arteriosus, Perimembranous ventricu... |
OMIM:608104 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Underdeveloped n... |
ORPHA:306542 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Stickler Syndrome, Type I |
|
Depressed nasal bridge, Anteverted nares, Osteoarthritis, Sensorineural hearing impairment, Arthr... |
OMIM:108300 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Micrognathia, Brachycephaly, Atrial septal defect, Neonatal death, Syndact... |
OMIM:612289 |
Fanconi Anemia, Complementation Group R |
|
Microcephaly, Absent thumb, Hydrocephalus, Growth delay, Anemia, Scoliosis, Radial dysplasia |
OMIM:617244 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Depressed nasal bridge, Anteverted nares, Failure... |
ORPHA:1308 |
Rhyns Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short stature |
OMIM:602152 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, High, narrow ... |
ORPHA:436003 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Arachnodactyly, Micrognathia, Thin calvarium, Short nose, Midface retrusion, Del... |
ORPHA:1129 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Abnormal bone ossification, C... |
ORPHA:79324 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Cleft lip, Partial duplication of... |
OMIM:618348 |
Helsmoortel-Van Der Aa Syndrome |
|
Posterior plagiocephaly, Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads,... |
OMIM:615873 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... |
ORPHA:276621 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Short stature, Limited elbow movement, Delayed closure of the anterior font... |
OMIM:614008 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Scarring, Postnat... |
ORPHA:90321 |
Turnpenny-Fry Syndrome |
|
Brachycephaly, Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Atr... |
OMIM:618371 |
Brittle Cornea Syndrome 1 |
|
Congenital hip dislocation, Red hair, Scoliosis, Macrocephaly, Palmoplantar cutis laxa, Dentinoge... |
OMIM:229200 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Absent thumb, Microcephaly, Short thumb, Micrognathia, Hypoplasia of the radius, Bu... |
OMIM:613951 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Microcephaly, Situs in... |
ORPHA:1449 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Microgna... |
OMIM:300960 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Choanal stenosis, Severe sensorineural hearing impairment, Conductive hearing imp... |
OMIM:620186 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Tetrasomy 12P |
|
Frontal bossing, Anteverted nares, Short stature, Cachexia, Short neck, Delayed skeletal maturati... |
ORPHA:884 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Elevated circulating creatine kinase concentration, Skin rash, Underdevel... |
OMIM:604173 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necrosis of the capital femo... |
ORPHA:3342 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ... |
ORPHA:1435 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Esophageal Atresia |
|
Omphalocele, Small for gestational age, Choanal atresia, Failure to thrive in infancy, Abnormalit... |
ORPHA:1199 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Ventricular septal defect, Proportionate short s... |
OMIM:613457 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal... |
OMIM:619339 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Sacral dimple, Anteverted nares, Depressed nasal bridge, Short... |
OMIM:617157 |
Elsahy-Waters Syndrome |
|
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... |
OMIM:211380 |
19P13.13 Microdeletion Syndrome |
|
Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Dolichocephaly, Pectus excavatu... |
ORPHA:357001 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Depressed nasal bridge, Broad nasal tip |
OMIM:601927 |
Toluene Embryopathy |
|
Short stature, Microcephaly, Protruding ear, Low-set ears, Short nose |
ORPHA:1920 |
Monosomy 18Q |
|
Failure to thrive, Depressed nasal bridge, Short stature, Prominent nose, Microcephaly, Bulbous n... |
ORPHA:1600 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Short st... |
ORPHA:280200 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment... |
OMIM:256710 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Short neck, Cardiomegaly, Secund... |
OMIM:300855 |
Peho Syndrome |
|
Short nose, Edema of the dorsum of feet, Progressive microcephaly, Tapered finger |
OMIM:260565 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Growth de... |
OMIM:234050 |
Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Antev... |
OMIM:608156 |
Scarf Syndrome |
|
Barrel-shaped chest, Prominent nasal bridge, Short neck, Wide nasal bridge, Abnormal form of the ... |
OMIM:312830 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Sho... |
ORPHA:364577 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Holoprosencephaly 9 |
|
Cleft upper lip, Postaxial hand polydactyly, Agenesis of incisor, Dental malocclusion, Hydrocepha... |
OMIM:610829 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, Death ... |
OMIM:619127 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Anteverted nares, Rocker bottom foot, Postaxial ... |
ORPHA:2886 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Short stature, Lateral clavicle hook, Horizontal ribs, ... |
OMIM:208500 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
Fryns Syndrome |
|
Omphalocele, Anteverted nares, Aganglionic megacolon, Large for gestational age, Hypoplasia of th... |
OMIM:229850 |
Amme Complex |
|
Inguinal hernia, Depressed nasal bridge, Diastasis recti, Sensorineural hearing impairment, Ellip... |
OMIM:300194 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Anteverted nare... |
OMIM:619879 |
Frontofacionasal Dysplasia |
|
Encephalocele, Non-midline cleft lip, Cleft palate |
ORPHA:1791 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Anteverted nares |
ORPHA:228384 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Narrow mouth, Calcaneovalgus ... |
OMIM:615065 |
Mend Syndrome |
|
Short stature, Prominent nasal bridge, Abnormal auditory evoked potentials, Wide anterior fontane... |
ORPHA:401973 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Pancytopenia, Postaxial polydactyly, Microcephaly, Splenomegaly, Hydrocephalus,... |
OMIM:614576 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... |
OMIM:179270 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Prominent nasal bridge, Wide nasal bridge, Low-set ears, Abnormal helix morphology, ... |
ORPHA:1519 |
Chromosome 3Q29 Duplication Syndrome |
|
Pes planus, Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Multiple palmar creases, Macr... |
OMIM:611936 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Hypoplastic toenails, Splenomegaly, Foot oligodactyly, Calvarial skull defect, Brachy... |
OMIM:616589 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Nasal congestion, Mixed hearing impairment, Facial palsy, Bony paranasal bossing |
OMIM:123000 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphol... |
ORPHA:667 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Adnp Syndrome |
|
Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Advanced eruption of ... |
ORPHA:404448 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Deeah Syndrome |
|
Death in infancy, Cervical hemivertebrae, Overlapping fingers, Short stature, Decreased hemoglobi... |
OMIM:619004 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Depressed nasal bridge, Diastasis recti, Short stature, Postnat... |
ORPHA:576 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... |
ORPHA:1848 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Ventricular septal defect, Short stature, Absent thumb, ... |
OMIM:227645 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Pectus excavatum, Kyphosis, Flexion contracture, Osteolysis, Abno... |
ORPHA:3042 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Otosclerosis, Inguinal hernia, Diastasis recti, Elevated circulating alpha-fetoprote... |
ORPHA:116 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, Short th... |
OMIM:613390 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Micrognathia, Contractures of the large joints, Scoliosis, Trigonocephaly, Short nose... |
ORPHA:329178 |
Squalene Synthase Deficiency |
|
Depressed nasal bridge, Micrognathia, Bilateral cryptorchidism, Elbow flexion contracture, 2-3 to... |
OMIM:618156 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Tapered finger, Pr... |
OMIM:300968 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2611 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Aortic valve s... |
OMIM:230800 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Hydr... |
OMIM:600145 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Mirage Syndrome |
|
Short stature, Rocker bottom foot, Radial club hand, Hydrocephalus, Patent ductus arteriosus, Thr... |
OMIM:617053 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Low ... |
OMIM:614976 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:95706 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Anteverted nares, Microcephaly, Postnatal growth retardation, Hydrocephalus, Apl... |
ORPHA:2306 |
Familial Benign Copper Deficiency |
|
Early balding, Diaphyseal thickening, Wide nasal bridge, Anemia |
ORPHA:1551 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Me... |
OMIM:259770 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, G... |
ORPHA:354 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Split hand, Clubbing, Cleft palate, Cleft upper lip |
OMIM:600460 |
Marshall Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Osteoarth... |
ORPHA:560 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th... |
ORPHA:51608 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Femur fracture, Splenomegaly, Hydrocephalus, Growth del... |
OMIM:612301 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Dend Syndrome |
|
Anteverted nares, Elevated hemoglobin A1c, Thickened ears, Hypsarrhythmia, Short nose |
ORPHA:79134 |
Boomerang Dysplasia |
|
Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na... |
OMIM:112310 |
Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Cardiomegaly, Thrombocytope... |
OMIM:608013 |
Alport Syndrome 3A, Autosomal Dominant |
|
Glomerulonephritis, Sensorineural hearing impairment, Hypophosphatemia, Azotemia, Nephritis, Hear... |
OMIM:104200 |
Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognathia, Cuboid-shaped vertebral bod... |
OMIM:612731 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
2Q31.1 Microdeletion Syndrome |
|
Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Clinodactyly o... |
ORPHA:251014 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... |
ORPHA:1163 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Small for gestational age, Short stature, Sensorineural hearing impairmen... |
OMIM:300661 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Conductive hearing impairment, Pulsatile tinnitus |
OMIM:168000 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgus, Abnormal form of t... |
ORPHA:818 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th finger, Bifid ton... |
ORPHA:2001 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Recurrent pharyngitis, Vertigo, Optic atrophy, Weight loss, Arthritis, C... |
ORPHA:397 |
Tetraamelia Syndrome 1 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Gastroschisis, Hypoplastic pelvis, Anal atresia |
OMIM:273395 |
Cockayne Syndrome B |
|
Basal ganglia calcification, Loss of facial adipose tissue, Normal pressure hydrocephalus, Severe... |
OMIM:133540 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... |
ORPHA:811 |
Okamoto Syndrome |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Microcephaly, S... |
ORPHA:2729 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Vertigo, Hyperkalemia, Hyperphosphatemia, Hyp... |
ORPHA:466650 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Hypopigmentation of th... |
ORPHA:411515 |
Adenylosuccinase Deficiency |
|
Anteverted nares, Microcephaly, Cerebral atrophy, Growth delay, Low-set ears, Short nose |
OMIM:103050 |
Brachydactyly, Type E1 |
|
Short metacarpal, Moderately short stature, Short metatarsal, Straight clavicles, Short clavicles... |
OMIM:113300 |
Faundes-Banka Syndrome |
|
Underdeveloped nasal alae, Bulbous nose, Cupped ear, Microtia, Long ear, Low-set ears, Primary mi... |
OMIM:619376 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Wormian ... |
OMIM:616603 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Anteverted nares, Down-sloping shoulders, Prominent nasal bri... |
ORPHA:1974 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Mixed hearing impairment, Microcephaly, Recurrent pneumonia, Neutropenia |
OMIM:620012 |
Gapo Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontan... |
OMIM:230740 |
3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Limited pronation/supination of fo... |
ORPHA:293843 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Microcephaly, Spinal dysraphism, Butterfly vertebrae |
OMIM:617660 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Short palm, Clinodactyly of the 5th finger, Microretrognathia, Branc... |
OMIM:613406 |
Kleefstra Syndrome |
|
Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Short stature, ... |
ORPHA:261494 |
Rothmund-Thomson Syndrome, Type 2 |
|
Frontal bossing, Congenital hip dislocation, Small for gestational age, Depressed nasal bridge, K... |
OMIM:268400 |
Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Absent septum pellucidum, Aganglionic megacolon, Abnormality of the ear, Growth... |
ORPHA:3339 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Short stature, Convex nasal ridge, Abnormal fingertip morpho... |
ORPHA:90154 |
Congenital Sialidosis Type 2 |
|
Inguinal hernia, Protruding tongue, Hydrocephalus, Gingival overgrowth, Polydactyly, Umbilical he... |
ORPHA:93400 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short stature, Tapered finger, Abnormal foot morphology, Scoliosis, Aortic valve stenosis, Hallux... |
ORPHA:268261 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Hypointensity of cerebr... |
ORPHA:206436 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment |
OMIM:122880 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Pes cavus, Macrocephaly at birth, Proportionate shortening of all digits, Ante... |
ORPHA:280633 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Death in infancy, Short stature, Anterior rib cupping, Microcephaly, Thrombocy... |
OMIM:617941 |
Cystinosis |
|
Short stature, Hypophosphatemia, Hypokalemia, Delayed puberty, Failure to thrive |
ORPHA:213 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdevelop... |
OMIM:300912 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Joint stiffness, Thrombocytopenia, Hydroce... |
ORPHA:505248 |
Hajdu-Cheney Syndrome |
|
Wide nose, Inguinal hernia, Anteverted nares, Short stature, Hydrocephalus, Large earlobe, Low-se... |
OMIM:102500 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Polydactyly |
OMIM:613464 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Brachycephaly, Clinodactyly of th... |
ORPHA:709 |
Prolidase Deficiency |
|
Depressed nasal bridge, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatit... |
OMIM:170100 |
Kabuki Syndrome |
|
Failure to thrive, Short stature, Congenital diaphragmatic hernia, Microcephaly, Sensorineural he... |
ORPHA:2322 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Short neck, Narrow chest, Atrial septal defect, Patent foramen ovale, Joint laxity,... |
OMIM:613610 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Microcephaly, Postaxial hand polydactyly, Patent ductus arteriosus, Ab... |
ORPHA:2519 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe ... |
ORPHA:522077 |
Prader-Willi Syndrome |
|
Short palm, Hypopigmentation of the skin, Iris hypopigmentation, Syndactyly, Hypogonadotropic hyp... |
OMIM:176270 |
Degcags Syndrome |
|
Osteopenia, Prominent nose, Micrognathia, Leukopenia, Iron deficiency anemia, Atrial septal defec... |
OMIM:619488 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Frontal bossing, Occipital encephalocele, Abnormal acetabulum morphology, Depressed nasal bridge,... |
ORPHA:397715 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, Recurrent pneumonia, EEG abnormality, Low-set ears, Asp... |
ORPHA:314655 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Anosmia, Aplasia of t... |
OMIM:603457 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Cerebral calcification, Failure to thrive, Elevated circulating creatine kinase con... |
ORPHA:2785 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper l... |
OMIM:129900 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Mixed hearing impairment, Pneumonia, Hepatosplenomegaly, Subcort... |
ORPHA:309288 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Bulbous nose, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:258850 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesity, Recurrent otitis media,... |
OMIM:605309 |
Cockayne Syndrome A |
|
Prominent nose, Basal ganglia calcification, Loss of facial adipose tissue, Short stature, Normal... |
OMIM:216400 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Joint dislocation, Joint laxity, Arachnodactyly, Pectus excavatum, Generalized... |
OMIM:601776 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Microcephaly |
ORPHA:833 |
Deafness, Autosomal Recessive 88 |
|
Mixed hearing impairment |
OMIM:615429 |
Bladder Exstrophy |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
Hennekam Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Mild postnatal growth retardation, External ear ... |
ORPHA:2136 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Short stature, Hypophosphatemia |
OMIM:193100 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... |
ORPHA:29072 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Talipes equinovarus, Macrocephaly, Short nose, Failure to thrive, Broad c... |
OMIM:617865 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia |
OMIM:613150 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Cerebral dysmyelination, Short-segmen... |
OMIM:609136 |
Atelis Syndrome 2 |
|
Pes planus, Frontal bossing, Sacral dimple, Single transverse palmar crease, Micrognathia, Promin... |
OMIM:620185 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Small for gestational age, Microcephaly, Postnatal growth retardat... |
ORPHA:699 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Frontal bossing, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Large for gestat... |
OMIM:614080 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:861 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Ankle flexion contracture, Underdeveloped nasal alae, Elbow flexion con... |
OMIM:618175 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Ventricular septal defect, Micrognathia, Partial duplic... |
OMIM:164210 |
Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Cleft ala nasi, Depressed nasal bridge, Abnormal pinna morphology, Abno... |
OMIM:219000 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Inguinal hernia, Redun... |
OMIM:614557 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Short stature, Microcephaly, Flexion contracture, Absence of subcutane... |
OMIM:601675 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Microtia, third degree, Abnormal nasal morphology, Low-set ears, Cam... |
OMIM:200110 |
Ayme-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Short stature, Tapered finger, Pectus excavatum, Wide nasal... |
OMIM:601088 |
Larsen Syndrome |
|
Conductive hearing impairment, Depressed nasal bridge, Short stature |
ORPHA:503 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Depressed nasal bridge, Large for gestational age, Thrombocytopenia, Neutropenia, Umb... |
OMIM:614520 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Bulbous nose, Sensorineural he... |
ORPHA:466943 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Hypopigmentation of the ski... |
OMIM:614072 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Shor... |
OMIM:227650 |
Pitt-Hopkins Syndrome |
|
Pes planus, Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Tapered fi... |
ORPHA:2896 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Anterior concavity of ... |
OMIM:216340 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... |
OMIM:617088 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Short stature, Microcephaly, Wide nasal bridge, Microtia, Intrauterine growth r... |
ORPHA:2282 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Anemia, Radial deviation of finger |
OMIM:165660 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, Neutropenia, Shor... |
ORPHA:221016 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Microcephaly, Joint stiffness, Secundum atrial septal defect, Flexion contractu... |
OMIM:609069 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Midface retrusion, Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Long fo... |
ORPHA:500095 |
Stromme Syndrome |
|
Accessory spleen, Prominent nasal bridge, Microcephaly, Micrognathia, Hydrocephalus, Preaxial pol... |
OMIM:243605 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... |
OMIM:261540 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate... |
OMIM:619103 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Microcephaly, Abnormality of the spleen, Meningoce... |
ORPHA:991 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Noonan Syndrome 3 |
|
Pectus carinatum, Atrial septal defect, Left unilambdoid synostosis, Patent foramen ovale, Juveni... |
OMIM:609942 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment, Severe short stature |
OMIM:126550 |
Arteriosclerosis, Severe Juvenile |
|
Short stature, Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Short phalanx... |
OMIM:208060 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Metopic synostosis, Trigonocephaly, Short nose |
OMIM:300581 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Atrial septal defect, Patent foramen ovale, Accessory spl... |
OMIM:620005 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Prominent nasal tip, Frontal bossing, Joint laxity, Sandal gap, Ventricular septal defect, Broad ... |
OMIM:620330 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Microceph... |
OMIM:600901 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Aplasia/Hypoplasia of the cerebellum, Abnormal auditory evoked potential... |
ORPHA:99027 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hepatitis, Nasal congestion, Hypophosphatemia, Pancreatitis, Hearing impairment |
ORPHA:562 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Short stature, Flared nostrils, Wide nasal bridge, Short columella, Decreased body w... |
OMIM:182210 |
Hunter-Macdonald Syndrome |
|
Inguinal hernia, Short stature, Sensorineural hearing impairment, Premature osteoarthritis, Campt... |
OMIM:611962 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Protruding ear, Periodontitis, Chronic otitis media, Low-set, posteriorly rotated ... |
ORPHA:534 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Bone ... |
ORPHA:352540 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Distal Deletion 12Q |
|
Median cleft lip, Broad hallux, Single transverse palmar crease, Overlapping toe, High, narrow pa... |
ORPHA:96149 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Long nose, Atrial septal defect, Clinodactyly of the 5th finger,... |
OMIM:619522 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Neutropenia, Sparse hair, Hypopigmentation of the skin, Abnormality of the nail,... |
ORPHA:2909 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Microcephaly, Erythroid hypoplasia, Reticular hyperpigmentation, Hypogonad... |
OMIM:618165 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Cerebral cortical atrophy, Hypoplasia of the corpus callosum |
ORPHA:85277 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Eczema, Recurrent skin infections, Microceph... |
OMIM:308205 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Broad hallux phalanx, Sacral dimple, Atrial septal defect, Sandal gap, Single transve... |
ORPHA:363611 |
Charge Syndrome |
|
Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Holoprosencephaly, Abnormality of ... |
ORPHA:138 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Frontal bossing, Depressed nasal bridge, Short stature, Cachexia, Patent ductu... |
ORPHA:79076 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Synophrys, Depressed nasal bridge, Postaxial polydactyly |
OMIM:615824 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hyp... |
OMIM:612541 |
H Syndrome |
|
Hallux valgus, Cleft upper lip, Malabsorption, Hydrocephalus, Gingival overgrowth, Camptodactyly |
ORPHA:168569 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Short stature, Increased circulating beta-C-terminal telopeptide concentration, Growth delay, Hyp... |
ORPHA:157215 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair, Long fibula, Biparietal narrowing, Abnormal metaphysis morphology, Lymphop... |
ORPHA:935 |
Mullegama-Klein-Martinez Syndrome |
|
Frontal bossing, Depressed nasal bridge, Curly eyelashes, Microcephaly, Micrognathia, Prominent n... |
OMIM:301022 |
Pycnodysostosis |
|
Rhizomelia, Cerebral dysmyelination, Prominent nose, Overweight, Hepatosplenomegaly, Mild conduct... |
ORPHA:763 |
Brittle Cornea Syndrome |
|
Sensorineural hearing impairment, Corneal scarring, Hernia, Camptodactyly, Conductive hearing imp... |
ORPHA:90354 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Flat occiput, Cessation of head growth, Mild mic... |
ORPHA:411511 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Uplifted earlobe, Reduced cerebral white matter volume, ... |
OMIM:280000 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Short stature, Hypophosphatemia |
OMIM:308990 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation... |
ORPHA:2554 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Flexion contracture, Thin ribs, Decreased body weight, Mild short stature |
OMIM:614833 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta... |
OMIM:612199 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Hypopigmentation of the skin, Sho... |
ORPHA:221008 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Overlapping toe, Broad hallux, Sandal gap, Anteverted nares, Depressed nasal... |
OMIM:618332 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short stature, Pectus excavatum, Macrocephaly, Short nose |
ORPHA:2835 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... |
OMIM:209900 |
Marden-Walker Syndrome |
|
Severe short stature, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Pectus excavatum,... |
ORPHA:2461 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Postnatal growth retardation, Hypophosphatemia... |
OMIM:227810 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia |
OMIM:239200 |
Hypophosphatemic Bone Disease |
|
Short stature, Hypophosphatemia |
OMIM:146350 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... |
OMIM:608670 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Abnormal form of the vertebral bod... |
ORPHA:904 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Partial agenesis of the corpus callosum, Brachycephaly, Prominen... |
OMIM:135900 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Sandal gap, Cleft upper lip, Deep philtrum, 2-3 toe syndactyly, Cleft palate, Anal... |
OMIM:251260 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Micrognathia, Hydrocephalus, Short neck, Wide na... |
OMIM:614083 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Single transverse palmar crease, Abnormal curvature of the vert... |
OMIM:619475 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Anteverted nares, Postaxial polydactyly, Abnormal hair whorl, Hydrocephalus, Plagio... |
ORPHA:457284 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Microcephaly, Hydrocephalus, Flexion contracture, Leukocytosis, Genu valgum, Abdom... |
OMIM:619321 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Short stature, Conductive hearing impairment, Sensorineural hearing impairment, ... |
ORPHA:536545 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Mixed hearing impairment, Cupped ear, Wide nasal bridge, Conjunctivitis, Low-set ears |
OMIM:615560 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, Semilobar ... |
OMIM:301043 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Anterior rib cupping, Horizontal inferior border of scapula, Abnormal pelvic girdle bone morpholo... |
OMIM:102700 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cerebral white matter atrophy, Mild postnatal growth retardation, Splenomegaly... |
ORPHA:90324 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia |
ORPHA:99879 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... |
ORPHA:31824 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Cleft palate, Thick vermilion bor... |
OMIM:242840 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hypopigmentation of hair, Flat occiput, Cessation of head growth, Mild mic... |
ORPHA:98794 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Anemia, Cortical thickening of... |
OMIM:131300 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Increased bone mineral density, Short stature, Rickets of the lower limbs, Craniosynostosis, Lowe... |
ORPHA:289176 |
Holoprosencephaly 14 |
|
Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hydrocephalus, Cleft ... |
OMIM:619895 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Cleft upper lip |
ORPHA:33001 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Wide nose, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:79330 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the t... |
ORPHA:436252 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Short stature, Absent thumb, Absent radius, Preaxial han... |
OMIM:227646 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Microcephaly, Abnormal heart morphology, Short nose, Midface retrusion |
DECIPHER:52 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... |
ORPHA:2473 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossific... |
ORPHA:93271 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Aplastic c... |
ORPHA:2658 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Narrow nasal tip, Prominent nasal bridge, Microcep... |
ORPHA:464306 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Atrial septal defect, Clinodactyly of the... |
OMIM:194050 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Short thumb, Short neck |
OMIM:610832 |
Floating-Harbor Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Prominent nasal bridge, Short stature, Prominent nose,... |
OMIM:136140 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Wide nose, Anteverted nares, Thick hair, Prominent nasal bridge, Onychauxi... |
ORPHA:769 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip... |
OMIM:604292 |
Manitoba Oculotrichoanal Syndrome |
|
Bifid nasal tip, Omphalocele, Broad nasal tip |
OMIM:248450 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Short stature, Severe postnatal growth... |
OMIM:613038 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... |
OMIM:601803 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Short stature, Knee flexion contracture, Bilateral conductive hearing impairment... |
ORPHA:488642 |
Congenital Myopathy 13 |
|
Short stature, Microcephaly, Flexion contracture, Low-set ears, Conductive hearing impairment |
OMIM:255995 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Hypouricemia, Short stature, Hypophosphatemia |
OMIM:616026 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot morphology, Hydro... |
ORPHA:1666 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cleft upper lip, Meningoencephalocele, Hydrocephalus, Cleft palate, Anal... |
OMIM:236670 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Secondary microcephaly... |
ORPHA:98795 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Optic disc coloboma, Choanal stenosis, Low-set ears, Short nose |
ORPHA:1790 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Short nose, Optic atrophy, Sensorineural hearing impairment |
OMIM:614863 |
Townes-Brocks Syndrome |
|
Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger, Agenesis of corpus cal... |
ORPHA:857 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate |
OMIM:243440 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the abdomin... |
ORPHA:2604 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... |
ORPHA:79477 |
Fanconi-Bickel Syndrome |
|
Growth delay, Failure to thrive, Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Pancreatitis, Chondrocalcinosis |
OMIM:600740 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Short stature, Hypophosphatemia |
OMIM:134600 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Delayed skeletal maturation, Bell-shaped thorax, Growth delay, Failure to thrive, Horizontal ribs |
OMIM:614857 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Broad nasal tip, Underdeveloped nasal alae, Microcephaly, Sensorineural h... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Broad nasal tip, Underdeveloped nasal alae, Microcephaly, Sensorineural h... |
ORPHA:352665 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Atrial septal d... |
ORPHA:1662 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Sma... |
ORPHA:398079 |
15Q Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Contracture of the proximal interpha... |
ORPHA:314585 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Microcephaly, Patent ductus arteriosus, Hypoplasia of the radius, Ap... |
OMIM:617247 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Depressed nasal bridge, Posteriorly rotated ears, Facial palsy, Br... |
OMIM:113620 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ... |
OMIM:619426 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials, Abnormal corpus callosum morphology |
ORPHA:206448 |
Native American Myopathy |
|
Short stature, Congenital contracture, Camptodactyly, Conductive hearing impairment, Arthrogrypos... |
ORPHA:168572 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Short stature, Bulbous nose, Severe conductive hearing impairment, Atrophic scars |
ORPHA:230851 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
Choanal Atresia |
|
Nasal congestion, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Feingold Syndrome Type 1 |
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Short stature, Microcephaly, Sensorineural hearing impairment, Conductive hearing impairment, Nep... |
ORPHA:391641 |
Albinism-Deafness Syndrome |
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Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Craniosynostosis And Dental Anomalies |
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Stapes ankylosis, Wide nose, Papilledema, Depressed nasal bridge, Convex nasal ridge, Absent mall... |
OMIM:614188 |
Frontofacionasal Dysplasia |
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Cranium bifidum occultum, Bifid uvula, Orofacial cleft, Cleft upper lip |
OMIM:229400 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ... |
ORPHA:85165 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... |
OMIM:214500 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Short stature, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Oculocutaneous Albinism Type 3 |
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White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Albinism-Deafness Syndrome |
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Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Hypophosphatemic rickets, Short stature, Hypophosphatemia |
OMIM:300554 |
Infantile Nephropathic Cystinosis |
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Abnormal blood ion concentration, Growth delay, Abnormal cerebral white matter morphology, Hypoka... |
ORPHA:411629 |
Legius Syndrome |
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Inguinal freckling, Acute monocytic leukemia, Axillary freckling, Multiple cafe-au-lait spots, Di... |
ORPHA:137605 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Hypokale... |
ORPHA:411634 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Posterior helix pit, Diastasis recti, Dandy-Walker malformation |
OMIM:130650 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Cachex... |
ORPHA:2072 |
Cystinosis, Nephropathic |
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Hyponatremia, Cerebral calcification, Failure to thrive in infancy, Short stature, Splenomegaly, ... |
OMIM:219800 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Short stature, Pneumonia, Sensorineural hearing impairment, Obesity, Growth delay, EEG abnormalit... |
ORPHA:353281 |
Fanconi Renotubular Syndrome 2 |
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Short stature, Hypophosphatemia |
OMIM:613388 |
Neurocardiofaciodigital Syndrome |
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Syndactyly, Microcephaly, Sparse eyebrow, Polydactyly, Sparse hair, Retrognathia, Overhanging nas... |
OMIM:619869 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Hypophosphatemia |
OMIM:612287 |
Lumbar Syndrome |
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Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:83628 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Congenital hip dislocation, Prominent nose, Brachycephaly, Depressed nasal bridge, Thoracolumbar ... |
ORPHA:480880 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Omphalocele, Umbilical hernia |
ORPHA:2241 |
Isolated Posterior Meningocele |
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Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t... |
ORPHA:268810 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Hypogonadotropic hypogonadism, Depressed nasal ridge, Decreased cervical spine mobility, Polydact... |
ORPHA:95494 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Micrognathia, Abnormal curvature of the vertebral column, Cervical cord compression, Abnormality ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Micrognathia, Abnormal curvature of the vertebral column, Cervical cord compression, Abnormality ... |
ORPHA:353277 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Single transverse palmar crease, Splenomegaly, Cafe-au-lait spot, Hypop... |
OMIM:618541 |
Lipodystrophy, Familial Partial, Type 7 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hypophosphatemia |
OMIM:612286 |
Orofaciodigital Syndrome Xiv |
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Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial han... |
OMIM:615948 |
Lethal Congenital Contracture Syndrome 5 |
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Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs |
OMIM:615368 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin, Microcephaly |
ORPHA:79254 |
Lymphedema-Distichiasis Syndrome |
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Cleft palate, Cleft upper lip |
OMIM:153400 |
Townes-Brocks Syndrome 1 |
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Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... |
OMIM:107480 |
Lowe Oculocerebrorenal Syndrome |
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Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retardation, Kyphosis, Wri... |
OMIM:309000 |
Isolated Arrhinia |
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Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
1P21.3 Microdeletion Syndrome |
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Short nose, Obesity, Long ear, Broad nasal tip |
ORPHA:293948 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Exstrophy-Epispadias Complex |
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Omphalocele, Inguinal hernia, Spina bifida, Microcephaly, Hydrocephalus, Cystocele, Abnormality o... |
ORPHA:322 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Magel2-Related Prader-Willi-Like Syndrome |
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Narrow nasal bridge, Hypopigmentation of hair, Cryptorchidism, Kyphosis, Small hand, Primary amen... |
ORPHA:398069 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Turricephaly, Short stature, Camptodactyly of finger, Abnormal rib morphology,... |
ORPHA:2907 |
Severe Congenital Nemaline Myopathy |
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Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... |
ORPHA:171430 |
Semilobar Holoprosencephaly |
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Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... |
ORPHA:93924 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Dental crowding, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Cleft upper... |
OMIM:309800 |
Ventriculomegaly With Cystic Kidney Disease |
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Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
Lacrimoauriculodentodigital Syndrome |
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Mixed hearing impairment, Abnormal pinna morphology, Choanal atresia, Abnormal dental enamel morp... |
ORPHA:2363 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:97330 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... |
OMIM:607932 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Turricephaly, Camptodactyly of finger, Flexion contracture, Abnormal rib morph... |
ORPHA:2908 |
Dent Disease 1 |
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Short stature, Hypophosphatemia |
OMIM:300009 |
Treacher Collins Syndrome 1 |
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Conductive hearing impairment, Atresia of the external auditory canal, Microtia, Choanal atresia |
OMIM:154500 |
Neurooculorenal Syndrome |
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Mixed hearing impairment, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the po... |
OMIM:620305 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Cardiac Diverticulum |
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Omphalocele, Diastasis recti, Endocarditis, Umbilical hernia, Abdominal wall defect |
ORPHA:1686 |
Hutchinson-Gilford Progeria Syndrome |
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High-frequency sensorineural hearing impairment, Prominent umbilicus, Narrow nasal tip, Narrow na... |
ORPHA:740 |
Oeis Complex |
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Omphalocele, Myelomeningocele, Hydrocephalus, Bladder exstrophy, Cloacal exstrophy |
OMIM:258040 |
Floating-Harbor Syndrome |
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Narrow nasal bridge, Small for gestational age, Short stature, Broad nasal tip, Long nose, Cochle... |
ORPHA:2044 |
Lymphangiectasia, Intestinal |
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Prominent floating ribs |
OMIM:152800 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, ... |
OMIM:619991 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Growth delay, Hypokalemia, Decreased... |
ORPHA:3337 |
Prader-Willi Syndrome |
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Narrow nasal bridge, Hypopigmentation of hair, Cryptorchidism, Small hand, Primary amenorrhea, Sh... |
ORPHA:739 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Delayed eruption of teeth, Hypopigmentation of hair, Hypopigmented skin patches, Taurodontia, Mul... |
ORPHA:3214 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Long toe, Short stature, Small for gestational age, Postnatal growth retardation, Long fingers, S... |
OMIM:613355 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Primary amen... |
ORPHA:98754 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hyponatremia, Wide nose, Depressed nasal bridge, Choanal atresia, Decreased circulating renin lev... |
OMIM:201750 |
Oculocutaneous Albinism Type 2 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Hereditary Fructose Intolerance |
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Growth delay, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Parathyroid Carcinoma |
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Hypercalcemia, Weight loss, Hypophosphatemia, Lipoma, Pancreatitis, Chondrocalcinosis |
ORPHA:143 |
Loeys-Dietz Syndrome 2 |
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Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinoph... |
OMIM:610168 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Diffuse cerebral atrophy, Hypouricemia, Microcephaly, Cerebral atrophy, Growth delay, Hypoplasia ... |
OMIM:252160 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Primary amen... |
ORPHA:98793 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
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Joint hypermobility, Thin ribs |
ORPHA:456328 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Primary amen... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Primary amen... |
ORPHA:177901 |
Senior-Loken Syndrome 8 |
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Polydactyly |
OMIM:616307 |
Menkes Disease |
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Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosis, Microcephaly, Micrognathia... |
ORPHA:565 |
Down Syndrome |
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Aganglionic megacolon, Short stature, Microtia, Myeloproliferative disorder, Conductive hearing i... |
OMIM:190685 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan... |
ORPHA:167 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Cholesteatoma |
OMIM:610978 |
Bardet-Biedl Syndrome 20 |
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Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... |
OMIM:619471 |
Sotos Syndrome |
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Hip contracture, Inguinal hernia, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hypercalce... |
ORPHA:821 |
Nijmegen Breakage Syndrome |
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Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Anal atresia |
ORPHA:647 |
Retinitis Pigmentosa 74 |
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Pigmentary retinopathy, Polydactyly |
OMIM:616562 |
Mowat-Wilson Syndrome |
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Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Flexion contracture, Large basal gangli... |
ORPHA:2152 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
Branchioskeletogenital Syndrome |
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Attached earlobe, Mixed hearing impairment, Depressed nasal bridge, Broad nasal tip, Microcephaly... |
ORPHA:1299 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Usher Syndrome, Type Ig |
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Hypoplasia of the nasal bone |
OMIM:606943 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
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Omphalocele, Short columella |
ORPHA:3164 |
Necrotizing Enterocolitis |
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Gastroschisis |
ORPHA:391673 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Renal And Mullerian Duct Hypoplasia |
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Frontal bossing, Short nose, Severe postnatal growth retardation, Micrognathia |
OMIM:266810 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Pancreatitis, ... |
ORPHA:405 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Hypouricemia, Microcephaly, Cerebral atrophy, Growth delay, Hypoplasia of the corpus callosum, Sh... |
OMIM:252150 |
Autosomal Dominant Centronuclear Myopathy |
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Large for gestational age, Thin ribs |
ORPHA:169189 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas... |
ORPHA:163746 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Hypercalcemia, Hypophosphatemia, Lipoma, Pancreatitis, Chondrocalcinosis |
ORPHA:99880 |
Myotubular Myopathy With Abnormal Genital Development |
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Joint hypermobility, Thin ribs |
OMIM:300219 |
Congenital Fibrosis Of Extraocular Muscles |
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Plagiocephaly, Hypogonadotropic hypogonadism, Hand oligodactyly |
ORPHA:45358 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Abnormal dental enamel morphology, ... |
ORPHA:79430 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Syndromic Diarrhea |
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Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu... |
ORPHA:84064 |
Tetrasomy 9P |
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Hypoplastic scapulae, Dental crowding, Abnormal dental enamel morphology, Median cleft lip and pa... |
ORPHA:3310 |
Fructose Intolerance, Hereditary |
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Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive |
OMIM:229600 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Preaxial polydactyly |
ORPHA:163681 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Congenital Ptosis |
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Cafe-au-lait spot, Long eyelashes, Piebaldism, Premature ovarian insufficiency |
ORPHA:91411 |
Pseudo-Torch Syndrome 2 |
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Thin ribs |
OMIM:617397 |
Dent Disease |
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Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Duplication Of Urethra |
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Rectourethral fistula, Anal fistula, Gastroschisis, Anal atresia |
ORPHA:237 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Rhinitis, Short nose |
OMIM:305100 |
Penile Agenesis |
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Posteriorly rotated ears, Short nose, Depressed nasal bridge, Cloacal abnormality |
ORPHA:49 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Syndactyly, Frontal bossing, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Aqu... |
OMIM:619534 |
Holoprosencephaly 2 |
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Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Semilobar ... |
OMIM:157170 |