Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression, Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression, Back pain, Spastic paraplegia |
OMIM:608220 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormality of the ... |
ORPHA:2345 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Caudal Duplication |
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Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver... |
ORPHA:1756 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... |
OMIM:122600 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Nevus Comedonicus Syndrome |
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Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Spinal cord compression, Myelopathy, Abnormality of the vertebral... |
OMIM:602475 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Alexander Disease Type I |
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Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity, Scoliosis, Dysphagia |
ORPHA:363717 |
Anencephaly 2 |
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Anophthalmia, Anencephaly |
OMIM:619452 |
Perching Syndrome |
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Respiratory distress, Cyanosis, Scoliosis, Dysphagia, Camptodactyly |
OMIM:617055 |
Chiari Malformation Type Ii |
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Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation... |
OMIM:207950 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Acalvaria |
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Talipes, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Aplasia/Hypo... |
ORPHA:945 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Optic atrophy, Upp... |
OMIM:617087 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Masa Syndrome |
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Hyperlordosis, Kyphosis, Hydrocephalus, Agenesis of corpus callosum, Talipes equinovarus, Pes cav... |
OMIM:303350 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Central apnea, Sacral dimple, Cerebellar vermis hypoplasia, Congenital hip dislocation, Single tr... |
OMIM:618291 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Single transverse palmar crease, Rocker bottom foot, Shor... |
OMIM:611890 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... |
ORPHA:1120 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Cutis marmorata, Spin... |
ORPHA:3219 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Diaphanospondylodysostosis |
|
Respiratory distress, Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, ... |
ORPHA:66637 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Metaphyseal dysplasia, Kyphos... |
OMIM:613330 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Sacral dimple, Toe syndactyly, Brachydactyly, Spina bifida, Camp... |
ORPHA:1327 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... |
OMIM:222600 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... |
OMIM:614399 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Scoliosis, Fusion of the left and right thalami, Agenesis ... |
OMIM:617542 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Hyperlordosis, Respiratory insufficiency due to muscle we... |
OMIM:611067 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... |
ORPHA:93320 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:1574 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Death in infancy, Lumb... |
OMIM:256050 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Scoliosis |
ORPHA:640 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Lumbar h... |
ORPHA:370959 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Pes planus, Scapular winging, Hip contracture, Hyperlordosis, Pectus excavatum, Kyphosis, Achille... |
OMIM:615290 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Abnormal spinal cord morphology, Flexion contracture, Vocal cord paralysis, Babi... |
ORPHA:99947 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Dysphagia, Death in adolescence, Stillbirth, Scol... |
OMIM:619751 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Hypoplasia of the pons, Partial agenes... |
OMIM:616171 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Kyphoscoliosis, Metatar... |
ORPHA:300570 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,... |
OMIM:300434 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema |
ORPHA:3456 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Aplasia Cutis Congenita |
|
Facial palsy, Abnormality of bone mineral density, Spinal dysraphism |
ORPHA:1114 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... |
OMIM:613686 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, Short 5th fi... |
ORPHA:557003 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... |
ORPHA:957 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Talipes equinovarus, Cerebellar hypoplasia, Cutaneous photosensitivity... |
OMIM:616570 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Recurrent pneumonia, Elbow fl... |
OMIM:214150 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Short stature, Optic nerve hypoplasia, Small for ... |
OMIM:615583 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormali... |
ORPHA:268882 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Talipes equinovarus, Congenital bilateral hip dislocation |
ORPHA:85288 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Dehydration, Dysphagia, Platyspondyly, Cone-shaped epiphyses of the d... |
OMIM:618958 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia |
OMIM:613885 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... |
OMIM:183900 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Camptodactyly of finger, Short neck, Enlarged thorax, Holoprosencephaly, Aplasia... |
ORPHA:2570 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Small hypothenar eminence, Small thenar eminence, Tali... |
OMIM:609311 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Short neck, Camptodactyly of f... |
OMIM:619110 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Microphthalmia |
ORPHA:1528 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Scoliosis, Paralysis |
OMIM:605285 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Short stature, Holoprosencephaly, Scoliosis, Thoracic hemivertebrae, Sp... |
ORPHA:1445 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Hydroceph... |
ORPHA:2635 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Pes planus, Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion con... |
OMIM:600175 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
Septopreoptic Holoprosencephaly |
|
Impulsivity, Hypoplasia of the pons, Abnormal rib morphology, Dysphagia, Rhombencephalosynapsis, ... |
ORPHA:280195 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotroph... |
ORPHA:496689 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Ventriculomegaly And Arthrogryposis |
|
Ulnar deviation of the wrist, Talipes equinovarus, Cerebellar hypoplasia, Hand clenching, Agenesi... |
OMIM:619501 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Brachydactyly, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syndact... |
OMIM:236500 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Clonus, Abnormal spinal cord morph... |
ORPHA:139578 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Tethered cord, Short stature, Short neck, Kyphosis, Hydrocephalus, Meningocele,... |
OMIM:130720 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Split Cord Malformation |
|
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Abnor... |
ORPHA:573278 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Single transverse palmar crease, Myelome... |
ORPHA:2437 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivert... |
ORPHA:1436 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Re... |
ORPHA:79139 |
Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Spina bifida |
ORPHA:1104 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Polyhydramnios, Anterior tibi... |
OMIM:114290 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Abnormal foot morphology, Dysphagia, Respiratory insufficiency, Degenerat... |
OMIM:607596 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Small for gestational age |
ORPHA:63862 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Polyhydramnios, Spina bifida, Edema, Short... |
OMIM:616038 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Tal... |
OMIM:601382 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Lower limb spasticity, Optic disc pallor, Tethered cord, Ataxia, Babinski sign, Spastic diplegia,... |
OMIM:615281 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hip dislocation, Talipes equinovarus, Attention deficit hyperactivity disorder |
ORPHA:250994 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper limb muscle weakness,... |
ORPHA:178145 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Lower limb asymmetry, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydac... |
ORPHA:404440 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Triceps weakn... |
ORPHA:98913 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... |
OMIM:109400 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Missing ribs, Proximal placement of ... |
OMIM:304050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Polyhydramnios, Spina bifida, Hyperlordosis, Myelo... |
ORPHA:63259 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Short stature, Spinal dysraphism, Unilateral vocal cord par... |
OMIM:617660 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Short stature, Elbow contracture, Multiple pterygia, Short nec... |
OMIM:178110 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Narrow chest, Nonimmune hydrops fetalis, Dumbb... |
OMIM:269250 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Spina bifida, Tracheomalacia, Kyphosis, Myelomen... |
ORPHA:1393 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Respiratory failure, Talipes equinovarus, Camptodactyly, Umbilical hernia, Adduct... |
OMIM:618011 |
Arthrogryposis, Distal, Type 7 |
|
Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Talipes equinovaru... |
OMIM:158300 |
Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Acrocyanosis, Short finger, Death in childhood |
OMIM:302000 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae |
OMIM:309620 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Death in adolescence, Bilateral talipes equinovarus, Cerebellar hypoplasia, Death in childhood |
OMIM:616486 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... |
OMIM:113000 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Spinal cord compression, Hypoplasia of the odontoid pro... |
ORPHA:485 |
Nescav Syndrome |
|
Cerebellar atrophy, Optic atrophy, Talipes equinovarus, Cerebellar vermis atrophy |
OMIM:614255 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Distal upper limb muscle weakness, Tal... |
OMIM:619216 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical verte... |
ORPHA:2522 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusio... |
OMIM:118100 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Polyhydramnios, Spina bifida, Short neck, Micromelia, Elbow dislocation, Camp... |
ORPHA:99776 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Agenesis of cerebellar vermis, Bowing of the long bones,... |
OMIM:614815 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Scoliosis, Spina bifida... |
ORPHA:2289 |
Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Meningocele, Premature graying of hair, Scoliosis, Sprengel ... |
ORPHA:894 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Focal T2 hyperintense thalamic... |
OMIM:619057 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epiphysis, Limited elbow f... |
OMIM:226900 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... |
ORPHA:59315 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral ... |
OMIM:274000 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neon... |
OMIM:108720 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Scoliosis, Slende... |
ORPHA:916 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow chest, Flaring of rib cage, Anisospon... |
OMIM:156530 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Polyhydramnios, Short neck, Micromelia, Narrow chest, Severe limb shortenin... |
OMIM:151210 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:171703 |
Achondroplasia |
|
Respiratory distress, Polyhydramnios, Bowing of the legs, Femoral bowing, Trident hand, Genu varu... |
OMIM:100800 |
Familial Congenital Mirror Movements |
|
Poor fine motor coordination, Fused cervical vertebrae, Cerebral palsy, Clumsiness |
ORPHA:238722 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Butter... |
ORPHA:313892 |
Keratoconus Posticus Circumscriptus |
|
Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion,... |
OMIM:244600 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... |
ORPHA:2369 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... |
ORPHA:141152 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal jo... |
ORPHA:1145 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Short neck, Micromelia, Short thorax, Abnormal rib morphology, Hydrops fetalis, S... |
ORPHA:93298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Rocker bottom foot, Polyhydramnios, Lateral ventricle dilatation, Talipes equin... |
OMIM:618266 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Charcot-Marie-Tooth Disease Type 4A |
|
Neuropathic spinal arthropathy, Limited interphalangeal movement, Hand muscle weakness, Decreased... |
ORPHA:99948 |
Myxopapillary Ependymoma |
|
Abnormal sacrum morphology, Autonomic bladder dysfunction, Abnormal conus terminalis morphology |
ORPHA:251643 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Equinovarus deformity, Ankle flexion c... |
ORPHA:1143 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification, Cerebellar calcifications, Motor tics |
OMIM:615483 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Optic atrophy, Talipes equinovarus |
OMIM:613162 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Cach Syndrome |
|
Cerebellar atrophy, T2 hypointense thalamus, Optic atrophy, Abnormal pons morphology, Lateral ven... |
ORPHA:135 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Congenital hip dislocation, Talipes equinovarus, Recurrent sinusitis, Bruising susceptibility, Fr... |
OMIM:130010 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Hydroce... |
OMIM:182940 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Apnea, Episodic tachypnea, Focal T2 hyperintense thalamic ... |
ORPHA:79264 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Rocker bottom foot, Decreased thalamic volume, Cerebellar hypoplasia |
OMIM:619072 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Talipes equinovarus, Dysphagia, Peroneal muscle atrophy |
OMIM:181400 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Spina bifida, Short neck, Proximal pl... |
OMIM:613776 |
Amish Lethal Microcephaly |
|
Spina bifida, Limitation of joint mobility, Osteoporosis, Optic atrophy, Decreased skull ossifica... |
ORPHA:99742 |
Porphyria, Acute Hepatic |
|
Failure to thrive, Respiratory paralysis, Paralysis |
OMIM:612740 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scoliosis |
ORPHA:85174 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Polyhydramnios, Congenital knee dislocation, Bilateral talipes equinovarus, Scoliosis, Hand clenc... |
ORPHA:319332 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy, Biconvex vertebral bodies, Short metacarpal, Genu recurva... |
OMIM:184260 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Scoliosis, Camptodactyly, Overla... |
OMIM:618436 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Long palm, Polyhydramnios, Missing ribs, Dyspnea, Abnormal ... |
ORPHA:2759 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... |
ORPHA:85172 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, ... |
OMIM:255200 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis... |
ORPHA:1326 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis |
OMIM:620009 |
Giant Axonal Neuropathy |
|
Facial palsy, Abnormal cerebellum morphology, Abnormal hand morphology, Abnormal pituitary gland ... |
ORPHA:643 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu va... |
ORPHA:3115 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Attention def... |
ORPHA:467166 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Miscarriage, T2 hypointense thalamus, Dysphagia |
ORPHA:1947 |
Trisomy 20P |
|
Finger syndactyly, Talipes, Spina bifida, Short neck, Camptodactyly of finger, Kyphosis, Abnormal... |
ORPHA:261318 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis, Respiratory insufficiency, Sprengel anomaly |
ORPHA:2901 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Acetabular dysplasia, Genu valgum, Talipes equinovarus, Coxa valga |
OMIM:613618 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Talipes equinovarus, Aggressive behavior |
OMIM:615683 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Apnea |
OMIM:610992 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Short neck, Pectus excavatum, Long... |
ORPHA:3309 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Short neck, Delayed skeleta... |
ORPHA:2332 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Abnormal optic disc morphology, Thoracic kyphosis, Short palm, Cl... |
ORPHA:508498 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Hydroceph... |
ORPHA:1908 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Distal arthrogryposis, Paralysis, Knee flexion contracture |
OMIM:616286 |
Gorlin Syndrome |
|
Vertebral fusion, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis |
ORPHA:377 |
Myopathic Ehlers-Danlos Syndrome |
|
Pes planus, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, ... |
ORPHA:536516 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... |
OMIM:602271 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Metaphyseal widening, Pectus carinatum, Flaring of rib cage, Anterior beaking of lumb... |
OMIM:253000 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:397725 |
Seckel Syndrome 8 |
|
Spinal cord compression, Short stature, Kyphoscoliosis |
OMIM:615807 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Lamb-Shaffer Syndrome |
|
Ataxia, Mild postnatal growth retardation, Optic atrophy, Fused cervical vertebrae, Thoracic kyph... |
ORPHA:530983 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:2790 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Cerebellar atrophy, Hip contracture, Neonatal respiratory distress, Short neck,... |
OMIM:616266 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2180 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Short neck, Bowing of the le... |
OMIM:200600 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis |
OMIM:300857 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Knee fl... |
OMIM:616531 |
Arthrogryposis, Distal, Type 1B |
|
Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture... |
OMIM:614335 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short stature, Cervical kyphosis, Spinal cord compression, Elbow ... |
OMIM:150250 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Cyanosis, Congenital hip dislocation, Sudden episodic apnea, Kyph... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Cyanosis, Congenital hip dislocation, Sudden episodic apnea, Kyph... |
ORPHA:590 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... |
ORPHA:99953 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Platysp... |
ORPHA:166272 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Dysphagia |
OMIM:613668 |
Arthrogryposis, Distal, Type 2A |
|
Polyhydramnios, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contrac... |
OMIM:193700 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Sirenomelia |
ORPHA:3169 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... |
ORPHA:93315 |
Lissencephaly 8 |
|
Occipital encephalocele, Optic atrophy, Retrocerebellar cyst, Talipes equinovarus, Cerebellar hyp... |
OMIM:617255 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Cerebellar calcifications |
OMIM:618824 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the... |
ORPHA:2916 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Optic atrophy, Cerebellar ... |
OMIM:615042 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Meni... |
OMIM:600145 |
Hydrolethalus |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Anencephaly |
ORPHA:2189 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Micromelia, Short neck, Bowing of the legs, Hydrocephalus, Hydrops fe... |
ORPHA:1865 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Down-sloping shoulders, Thoracolumbar scoliosis... |
OMIM:114300 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Talipes equinovarus |
OMIM:610244 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Bowing of the legs, Metaph... |
OMIM:255800 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short stature, Short neck, Joint hyperflexibility, Umbi... |
ORPHA:915 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Anisospondyly, Respiratory insuffi... |
OMIM:224410 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Spina bifida, Hyperlordosis, Pectus excavatum, Abnormality of the hand, Metaphysea... |
OMIM:234100 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Thoracic scoliosis, Oral-pharyngeal dysphagia, Optic atrophy, Abnormal thalamic MRI signal intens... |
ORPHA:254930 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle weakness, Facial palsy, Hyperlordosis, Peroneal muscle atrophy,... |
OMIM:181405 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy |
OMIM:274270 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Optic atrophy, Dehydration, Anorexia |
ORPHA:79312 |
Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Coxa valga, Hypoplasia of th... |
OMIM:253010 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... |
OMIM:108120 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Edema, Reduced forced vital capacity, Nonproductive cough, Dysp... |
ORPHA:2302 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Respiratory distress, Respiratory failure requiring assisted ventilation, Fa... |
OMIM:211530 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplas... |
OMIM:264180 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Talipes equinovarus |
OMIM:614209 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Clinodactyly, Scoliosis |
OMIM:300934 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Optic disc pallor, Optic disc drusen |
OMIM:611040 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification, Dysphagia |
OMIM:618317 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Polyhydramnios, Micromelia, Wide-cupped costochondral junctions... |
OMIM:187601 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Thoracic scoliosis, Brachydactyly, Prematurely aged appearance, Lack of facial subcutaneous fat, ... |
ORPHA:2959 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... |
ORPHA:1302 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Split hand, Hammertoe, Talipes equinov... |
OMIM:604563 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... |
OMIM:277720 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Restrictive ventilatory defect, Bilateral talipes equinovarus, Talipes ... |
OMIM:618484 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Frequent falls |
OMIM:607155 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Talipes equinovarus, Upper limb amyotrophy |
ORPHA:99940 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Pes planus, Facial palsy, Abnormal cerebellum morphology, Areflexia of lower limbs, Lateral ventr... |
OMIM:256850 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Short neck |
ORPHA:1832 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Increased circulating gonadotropin level, Talipes equinovarus, Scoliosis, Pes... |
OMIM:233400 |
Diabetic Embryopathy |
|
Hydrocephalus, Abnormal sacrum morphology, Spinal dysraphism, Vertebral segmentation defect, Apla... |
ORPHA:1926 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... |
ORPHA:363958 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Bilateral talipes equinovarus |
OMIM:618174 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Hydrocephalus, F... |
OMIM:616482 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Disinhibition |
OMIM:618193 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Short middle phalanx of finger, Ta... |
ORPHA:93388 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand muscle weakness, Decrease... |
ORPHA:101097 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Talipes equinovarus |
ORPHA:85338 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly |
ORPHA:77298 |
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Talipes equinovarus |
ORPHA:238578 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Paralysis |
OMIM:613710 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... |
ORPHA:50251 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Microhydranencephaly |
|
Talipes equinovarus, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum, Self-mu... |
OMIM:605013 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Polyhydramnios, Edema, Narrow chest, Flared elbow metaphyses, L... |
ORPHA:1423 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... |
OMIM:304120 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Ankle flexion contracture, Short neck, Knee flexion contracture, La... |
ORPHA:284417 |
Spinal Arteriovenous Metameric Syndrome |
|
Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Bone pain, Abnormality of the verte... |
ORPHA:53721 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Microtriplication 11Q24.1 |
|
Short neck, Metatarsus adductus, Small hand, Genu valgum, Retrocerebellar cyst, Short foot, Talip... |
ORPHA:289522 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Pes planus, Brachydactyly, Short neck, Split hand, Dysphagia, F... |
OMIM:157900 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Femoral-Facial Syndrome |
|
Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal... |
ORPHA:1988 |
Isolated Posterior Meningocele |
|
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Parapleg... |
ORPHA:268810 |
Joint Laxity, Short Stature, And Myopia |
|
Cervical kyphosis, Kyphoscoliosis, Pectus carinatum, Talipes equinovarus, Umbilical hernia |
OMIM:617662 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Abnormal thalamic MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Prieto Syndrome |
|
11 pairs of ribs, Coxa valga, Patellar subluxation, Patellar dislocation, Talipes equinovarus, Ra... |
OMIM:309610 |
Transient Neonatal Diabetes Mellitus |
|
Umbilical hernia, Dehydration |
ORPHA:99886 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Short metacarpal, Pseudoepiphyses of the metacarpals, Progeroid faci... |
OMIM:618150 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium,... |
ORPHA:2414 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... |
OMIM:108721 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Reduced forced expiratory volu... |
OMIM:108145 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly |
OMIM:147250 |
Congenital Myopathy 24 |
|
Scapular winging, Reduced vital capacity, Facial palsy, Pectus excavatum, Talipes equinovarus, Pe... |
OMIM:617336 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus excavatum, Hypop... |
OMIM:253220 |
Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Scolios... |
ORPHA:3447 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Jacobsen Syndrome |
|
Death in infancy, Broad hallux phalanx, Finger syndactyly, Pes planus, Toe syndactyly, Spina bifi... |
ORPHA:2308 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Talipes, Tarsal synostosis, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Cerebellar atrophy, Finger clinodactyly, Talipes equinovarus, Scoliosis, Clinodactyly of the 3rd ... |
OMIM:611182 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, S... |
ORPHA:2092 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Cyanosis, Bowing of the long bones, Talipes, Postaxial polyd... |
OMIM:619879 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Hip dislo... |
ORPHA:3412 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Hydrocephalus, Bilateral talipes equinovarus, Polyphagia, Self-mutilation |
OMIM:616521 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Split hand, Talipes equinovarus, Kyphoscoliosis |
OMIM:607831 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Short neck, Micromelia, Calcaneovalgus deformity, Neonatal death, Agenesis of cor... |
OMIM:256520 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Pontocerebellar Hypoplasia, Type 11 |
|
Pes planus, Hypoplasia of the pons, Self-injurious behavior, Agenesis of corpus callosum, Talipes... |
OMIM:617695 |
Familial Cold Urticaria |
|
Urticaria, Polydipsia, Erythema, Dehydration |
ORPHA:47045 |
Acute Disseminated Encephalomyelitis |
|
Respiratory failure requiring assisted ventilation, Aggressive behavior, Abnormal cerebellum morp... |
ORPHA:83597 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... |
OMIM:300580 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Ulnar deviation of finger, Talipes equinovarus, Scoliosi... |
ORPHA:2053 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... |
ORPHA:1724 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Polyhy... |
OMIM:187600 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Metaphyseal widening, Pectus carinatum, Arachnodactyly, Repeated pneumothor... |
ORPHA:536467 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Facial palsy, Polyhydramnios, Short neck, Rocker b... |
OMIM:301041 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Hyperlordosis, S... |
OMIM:314580 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Micromelia, Prox... |
ORPHA:628 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Polyhydramnios, Short ne... |
ORPHA:314621 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Kyphoscoliosis |
OMIM:617977 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Restlessness, Respiratory distress, Edema of the dorsum of feet, Edema of the... |
ORPHA:544503 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Flexion contracture, Vocal cord paralysis, Distal arthrogryposis |
OMIM:616287 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Asthma, Coxa vara, ... |
OMIM:616716 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Solitary Bone Cyst |
|
Back pain, Abnormal spinal cord morphology, Bone pain, Abnormal form of the vertebral bodies, Pat... |
ORPHA:83468 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Babinski sign, Spinal cord lesion, Lower limb hypertonia, Spastic ... |
ORPHA:171863 |
Brachyolmia Type 3 |
|
Short neck, Spinal cord compression, Kyphosis, Childhood-onset short-trunk short stature, Platysp... |
OMIM:113500 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Calf muscle hypertrophy, Th... |
ORPHA:86812 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Acute Peripheral Arterial Occlusion |
|
Limb pain, Lower limb pain, Paralysis |
ORPHA:90064 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Cervical cord compression, Hypoplastic cervical vertebrae, Vertebra... |
ORPHA:79345 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the cal... |
ORPHA:163966 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Premature graying of hair, Supernumerary ribs, Supernumerary vert... |
OMIM:193500 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Proximal femoral metaphyseal irregu... |
ORPHA:397715 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Pes planus, Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged... |
OMIM:609616 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Neu-Laxova Syndrome |
|
Polyhydramnios, Spina bifida, Micromelia, Large hands, Cerebellar hypoplasia, Scoliosis, Broad fo... |
ORPHA:2671 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus ... |
OMIM:156550 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Babinski sign, Spinal cord lesion, Limb ataxia, Upper limb spastic... |
ORPHA:100989 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Optic atrophy |
ORPHA:3378 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Optic atrophy, Talipes equinovarus, Scoliosis |
OMIM:617481 |
Phakomatosis Pigmentokeratotica |
|
Hemiatrophy, Scoliosis, Spina bifida, Lymphedema |
ORPHA:2874 |
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 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Tapered finger, Aggressive behavior, Long fingers, Talipes equinovarus, Scoliosis,... |
OMIM:617773 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing... |
OMIM:613848 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Lower limb asymmetry, Spinal dysraphism, Scoliosis |
OMIM:612918 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Short neck, Aqueductal stenosis, Missing ribs, Absent thumb, Humeroradial synostosis,... |
OMIM:251230 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Talipes equinovarus |
OMIM:615035 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Polyhydramnios, Short neck, Micromelia, Tracheobronchomalacia, Narrow chest, S... |
ORPHA:56304 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Anterior pituitary hypoplasia, Meningocele, Upper airway obstruction, Patellar hyp... |
ORPHA:1827 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Kyphoscoliosis, Postaxial hand polydactyly, Preaxi... |
ORPHA:65759 |
Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion, Optic atrophy |
ORPHA:254881 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Polyhydramnios, Dehydration |
OMIM:616069 |
Central Core Disease |
|
Pes planus, Neonatal respiratory distress, Congenital hip dislocation, Kyphoscoliosis, Respirator... |
ORPHA:597 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Prominent fin... |
OMIM:277590 |
Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Short neck, Death in infancy, Neonatal respiratory distress, Restrictive ventilat... |
OMIM:618947 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal rib morphology, Abnormal carpal morphology, Sh... |
ORPHA:93351 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hemivertebrae, Hip dislocation, Abnorm... |
ORPHA:93929 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... |
ORPHA:2876 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Edema, Pericardial effusion, Abnormal foot morphology, Hydrocephalus, Clinodacty... |
OMIM:617822 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Respiratory distress, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis, Han... |
ORPHA:37612 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Pes planus, Sacral dimple, Single transverse palmar crease, Short neck, Talipes equinovarus, Umbi... |
OMIM:613544 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Polyhydramnios, Edema, Short neck, Mesomelic/rhizomelic limb shortening, Fl... |
ORPHA:2347 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Dehydration |
ORPHA:28 |
Cousin Syndrome |
|
Short neck, Prominent protruding coccyx, Clinodactyly of the 5th finger, Wrist flexion contractur... |
OMIM:260660 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Hammertoe, Talipes equinovarus, Scoliosis, Ulnar claw, Pes cavus |
OMIM:608340 |
Harlequin Ichthyosis |
|
Respiratory insufficiency, Dehydration, Self-injurious behavior, Hand polydactyly, Foot polydactyly |
ORPHA:457 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Abnormal conus terminalis morphol... |
ORPHA:464321 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Abnormal form of the vertebral bodies,... |
ORPHA:1788 |
Central Diabetes Insipidus |
|
Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
Trisomy 18 |
|
Bilateral single transverse palmar creases, Camptodactyly of finger, Spina bifida, Abnormality of... |
ORPHA:3380 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus, Dysphagia |
OMIM:150260 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Optic disc pallor |
OMIM:613730 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Optic atrophy, Respiratory insufficiency, Bilateral talipes equinovarus, Scol... |
ORPHA:544469 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology, Abnormal pattern of respiration, Cerebral edema |
ORPHA:88619 |
49,Xxxxy Syndrome |
|
Pes planus, Down-sloping shoulders, Short neck, Elbow dislocation, Coxa valga, Pulmonary embolism... |
ORPHA:96264 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Cerebellar atrophy, Kyphoscoliosis, Cerebellar hypoplasia, Scoliosis, Talipes equinovarus, Clinod... |
OMIM:616354 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Elbow... |
OMIM:617468 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly |
OMIM:615993 |
Greenberg Dysplasia |
|
Polyhydramnios, Beaded ribs, Micromelia, Hydrops fetalis, Hypoplastic vertebral bodies, Hypoplasi... |
OMIM:215140 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus, Scoliosis |
OMIM:616155 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory... |
ORPHA:70587 |
Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Facial palsy, Shoulder flexion contracture, Spinal rigidity, Achilles tendo... |
OMIM:617114 |
Arthrogryposis, Distal, Type 2E |
|
Joint contracture of the hand, Foot joint contracture, Talipes equinovarus |
OMIM:121070 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Lobar holoprosencephaly |
ORPHA:2117 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb... |
OMIM:608681 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Thoracic scoliosis, Cerebellar vermis hypoplasia, Rhizomelia, Single transver... |
OMIM:611209 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short neck, Jaundice, Short thorax, Decreased thalamic volume, Brach... |
ORPHA:168577 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Ag... |
ORPHA:990 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Cofs Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:1466 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, D... |
ORPHA:93307 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Chiari type I mal... |
OMIM:182212 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus, Facial palsy |
OMIM:613155 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Gait ataxia... |
ORPHA:88628 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus |
OMIM:208100 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Broa... |
OMIM:300280 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Polyhydramnios, Short neck, Hemivertebrae, Tibial bowing, Narrow... |
ORPHA:96334 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Polyhydramnios, Short neck, Micromelia, Short thorax, Hydrops fetalis, Sh... |
ORPHA:93299 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Abnormal foot morphology, Respiratory insufficiency, Knee flexion contracture, Talipes equ... |
OMIM:618198 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformity, Kyphosis... |
OMIM:609128 |
Congenital Myopathy 20 |
|
Scapular winging, Ulnar deviation of the hand, Toe joint contracture, Hip dislocation, Talipes eq... |
OMIM:620310 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... |
ORPHA:485421 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Spinal cord compression, Platyspo... |
ORPHA:93346 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovarus, Supernumera... |
ORPHA:2958 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Palpebral edema, Polyhydramnios, Short neck, Micromelia, ... |
ORPHA:50810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Respi... |
OMIM:613153 |
Panhypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95513 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop... |
ORPHA:2004 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Short stature, Optic nerve hypoplasia, Postnatal growth re... |
OMIM:206900 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Pectus excavatum, 3-4 finger cutaneous syndactyly, Vertebral segmentation defect, Hol... |
OMIM:612530 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... |
OMIM:617102 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-sha... |
OMIM:615633 |
Dystonia, Dopa-Responsive |
|
Pes cavus, Talipes equinovarus, Scoliosis |
OMIM:128230 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia |
ORPHA:77260 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Polyhydramnios, Partial agenesis of the corpus callosum, Osteopathia striata, Clinodactyly... |
OMIM:300373 |
Lambert Syndrome |
|
Jaundice, Talipes equinovarus |
OMIM:245550 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulde... |
OMIM:620369 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Facial palsy, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Hip di... |
OMIM:254090 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Pes planus, Facial palsy, Kyphoscoliosis, Tapered finger, Short neck, Dyspnea, Elbow flexion cont... |
OMIM:272430 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Cerebellar hypoplasia, Talipes equinovarus |
OMIM:616654 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Metaphyseal widening, Cervical cord compression, Short phalanx o... |
OMIM:177170 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Polyhydramnios, Abnormal foot morp... |
OMIM:618186 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Respiratory distress, Rocker bottom foot, Dysphagia, Agenesis of corpus callo... |
ORPHA:89844 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Optic atrophy |
ORPHA:899 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Long fingers, Respiratory insuffi... |
ORPHA:169186 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormality of the knee, Scapular winging, Hypoventilation, Neonatal respir... |
ORPHA:98915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Failure to thrive, Tarsal synostosis, Camptodactyl... |
ORPHA:90652 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal ... |
OMIM:618917 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Polyhydramnios, Abnormal ossification involving the femoral head and nec... |
ORPHA:1190 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral... |
OMIM:617895 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... |
OMIM:192350 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Nonimmune hydrops fetalis, Lymphedema, Pectus excavatum, Periorbital edema, Perica... |
OMIM:235510 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Short stature, Small for gestational ag... |
OMIM:610443 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dehydration |
OMIM:212140 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Leigh Syndrome |
|
Cerebellar atrophy, Optic atrophy, Abnormal thalamic MRI signal intensity, Dysphagia, Agenesis of... |
ORPHA:506 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... |
OMIM:618000 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Plantar crease between first and second toes, Single transverse palmar crea... |
OMIM:180849 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Pes planus, Overfriendliness, Tapered finger, Hypoplasia of the pons, Recurrent pneumonia, Chiari... |
OMIM:619293 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Cerebellar vermis hypoplasia, Overlapping toe, Optic atrophy, Pectus carina... |
OMIM:619383 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attentio... |
OMIM:619580 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Hyperlordosis, Pectus excavatum, Calf muscle hypertrophy, Scapular musc... |
OMIM:611588 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Short stature, Butterfly vertebrae |
OMIM:619227 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
Erythema Of Acral Regions |
|
Erythema, Talipes equinovarus |
OMIM:227000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Optic atrophy, Dehydration |
ORPHA:27 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Noonan Syndrome 13 |
|
Pes planus, Overlapping toe, Short neck, Lymphedema, Tapered finger, Lower limb asymmetry, Metata... |
OMIM:619087 |
Meningioma |
|
Back pain, Enlarged pituitary gland, Papilledema, Facial palsy, Reduced circulating prolactin con... |
ORPHA:2495 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Optic atrophy, Upper limb undergrowth, Small han... |
OMIM:608799 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Optic disc pallor |
OMIM:251270 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Optic atrophy |
ORPHA:1473 |
Contractural Arachnodactyly, Congenital |
|
Short neck, Pectus carinatum, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly... |
OMIM:121050 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C... |
OMIM:601680 |
Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... |
OMIM:612651 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... |
ORPHA:79126 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... |
ORPHA:2131 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility,... |
OMIM:617333 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Hydrops fetalis, Talipes calcaneovalgus, Knee flexion contracture, Camptodactyly of t... |
OMIM:265000 |
Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck, Horner syndrome, Syringomyelia, Abnormal cervical myelogram |
OMIM:109500 |
Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Kyphosis, Abnormal sternum morphology, Radioulnar synostosis, Camptod... |
OMIM:248700 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Lower limb asymmetry, Short neck, Abnormal rib morphology, Narrow chest,... |
ORPHA:1703 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Holoprosencephaly |
|
Encephalocele, Talipes, Short neck, Hydrocephalus, Optic atrophy, Spinal cord tumor, Abnormal for... |
ORPHA:2162 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Brachydactyly, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact... |
OMIM:613091 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum, Unilateral ... |
OMIM:619480 |
Congenital Heart Block |
|
Cyanosis, Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pleural effusion, Ol... |
ORPHA:60041 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irreg... |
OMIM:618395 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short neck, Pectus carinatum, Knee dislocation, Shoulder dislocation, Narrow chest, Dislocated ra... |
OMIM:245600 |
Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib mor... |
ORPHA:3015 |
Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Respiratory insufficiency, Platyspondyly, Talipes equinovarus... |
ORPHA:2771 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior... |
OMIM:604320 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... |
OMIM:265120 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Short stature, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral seg... |
ORPHA:96169 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Respiratory distress, Rhizomelia, Polyhydramnios, Brachioradialis areflexia, ... |
OMIM:616271 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Polyhydramnios, Edema, ... |
OMIM:607143 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Asthma, Hydrocephalus, Dehydration, Prolonge... |
OMIM:619377 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Recurrent pneumonia, Later... |
OMIM:617751 |
Mucolipidosis Ii Alpha/Beta |
|
Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoi... |
OMIM:252500 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Talipes equinovarus, Slender finger, Dandy-Walker malformation |
OMIM:147800 |
Propionic Acidemia |
|
Tachypnea, Apnea, Dehydration |
OMIM:606054 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Talipes equinovalgus, Bilateral talipes equinovarus, Scoliosis |
OMIM:619735 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Polyhydramnios, Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Holopros... |
OMIM:269860 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Distal lower limb muscle weakness, Optic atrophy, Talipes equinovarus, Cerebellar vermis atrophy |
ORPHA:466794 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Hyperactivity, Overlapping toe, Single transverse palmar crease, Tapered finger, A... |
OMIM:619148 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Arachnodactyly, Polyhydramnios, Spina bifida, Short neck, Abnormal thorax ... |
ORPHA:567 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Aggressive behavior, Pectus excavatum, Pectus carinatum, Talipes equinovarus, Sco... |
OMIM:301039 |
Schwartz-Jampel Syndrome |
|
Apnea, Polyhydramnios, Short neck, Micromelia, Coxa vara, Pectus carinatum, Wrist flexion contrac... |
ORPHA:800 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Apnea, Single transverse palmar crease, Rocker bottom foot, Postaxia... |
ORPHA:2886 |
Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Jaundice, Talipes calcaneovalgus, Dehydration, Oligohydramnios |
OMIM:208085 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Rhi... |
ORPHA:239 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus, Jaundice, Op... |
ORPHA:79282 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Edema, Short neck, Talipes equinovarus, Camptodactyly, Neonatal death, Ascites,... |
OMIM:608104 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Abnormal femur morphology, Talipes calcaneovalgus, Patellar... |
ORPHA:2614 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia |
OMIM:611134 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Missing ribs, Diastomatomyelia, Meningocele, Respiratory insufficiency |
ORPHA:1759 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Preaxial hand polydactyl... |
ORPHA:261344 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance |
OMIM:619466 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Brachydactyly, Prematurely aged appearance, Bowi... |
ORPHA:1318 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Polyhydramnios, Tapered finger, Pectus excavatum, K... |
ORPHA:2215 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Hydrocephalus, Abnormal rib morphology, Abnorm... |
ORPHA:1834 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Quadriceps muscle atrophy, Optic atrophy, Abnormal thalamic MRI signal intens... |
ORPHA:845 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exca... |
OMIM:271225 |
Lethal Congenital Contracture Syndrome 11 |
|
Polyhydramnios, Elbow flexion contracture, Bilateral talipes equinovarus, Camptodactyly, Flexion ... |
OMIM:617194 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Prominent superficial blood vessels, Congenital hip dislocation, Pectus excavatum, Hip dislocatio... |
OMIM:219150 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Halperin-Birk Syndrome |
|
Optic atrophy, Hip dislocation, Aspiration, Pseudobulbar paralysis, Colpocephaly, Talipes equinov... |
OMIM:618651 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis |
OMIM:162500 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Atrophy/Degeneration involving the spinal cord, Abnormal thalamic MRI signal intensity, Abnormal ... |
ORPHA:70595 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Talipes equinovarus, Colpocephaly, Cerebellar hypoplasia |
ORPHA:401815 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Polyhydramnios, Beaded ribs, Short neck, D... |
OMIM:616897 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy |
ORPHA:26792 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Polydactyly, Choking episodes, Tracheom... |
ORPHA:137914 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal stenosis, Abno... |
ORPHA:3035 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Patellar hypopla... |
ORPHA:2257 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Sprengel ... |
OMIM:601389 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Absent Achilles refle... |
OMIM:620011 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Bronchiectasis, Dehydration, Cough |
ORPHA:33110 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Short neck, Missing ribs, Lumbar hemivertebrae, Clinodactyly of the 5th finger, T... |
OMIM:619859 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Edema, Tachypnea, Dehydration, Agitation, Cough, Oral aversion |
ORPHA:134 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Short stature, Craniosy... |
OMIM:213980 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... |
OMIM:259440 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Dysphagia, Abnormal dentate nucl... |
ORPHA:157846 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Ta... |
OMIM:619762 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... |
OMIM:271640 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Neonatal death, Microphthalmia |
ORPHA:85284 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp... |
ORPHA:1488 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Palpebral edema, Kyphoscoliosis, Hypoplasia of the pons, Pectus c... |
ORPHA:397709 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress, Dysphagia |
ORPHA:240103 |
Mehmo Syndrome |
|
Agitation, Talipes equinovarus, Tapered finger |
ORPHA:85282 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema |
OMIM:267450 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Lymphedema, Metaphyseal widening, Abnormal finger morphology, Pe... |
ORPHA:536471 |
Neurofibromatosis, Type I |
|
Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu v... |
OMIM:162200 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Meningocele, Optic a... |
ORPHA:991 |
Caudal Regression Syndrome |
|
Impulsivity, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Chiari... |
ORPHA:3027 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, D... |
ORPHA:363705 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... |
OMIM:617821 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Pectus excavatum, Optic atrophy, Deviation of finger, Bilateral talipes equinovar... |
ORPHA:1154 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Missing ribs, Aplasia/Hypoplasia of the d... |
ORPHA:1647 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addic... |
ORPHA:178320 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Polyhydramnios, Rocker bottom foot, Coxa valga, Talipes equinovalgus, Pos... |
OMIM:301056 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Genu recurvatum, Kyphoscoliosis, Split hand, Talipes e... |
OMIM:604168 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, ... |
OMIM:224690 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Thoracolumbar scoliosis, Overlapping toe, Metatarsus adductus, Short thumb, Abnor... |
ORPHA:436003 |
Loeys-Dietz Syndrome 4 |
|
Pes planus, Arachnodactyly, Protrusio acetabuli, Pneumothorax, Dural ectasia, Abnormal sternum mo... |
OMIM:614816 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Pes planus, Acetabular dysplasia, Genu recurvatum, Talipes equinovarus |
OMIM:614066 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Optic atrophy, Pectus carinatum, Talipes equinovarus, Scoliosis, Hand clenching, Dandy-... |
OMIM:617988 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus |
ORPHA:858 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Aggressive behavior, Talipes equinovarus, Attention deficit... |
ORPHA:251019 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Holoprosencephaly, Tracheomalacia, Agenesis of corpus callosum |
OMIM:202650 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Patent ductus arteriosus, Osteoporosis, Scoliosis, Cer... |
OMIM:617190 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... |
ORPHA:95699 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short stature, Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder disl... |
OMIM:171480 |
Fanconi Anemia |
|
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly... |
ORPHA:84 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Abnormality of peripheral nerve conduction |
ORPHA:48431 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis, Death in adolescence, Facial di... |
OMIM:122860 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Polyhydramnios, Knee flexion contracture, Aspiration pneumonia, Hyper... |
ORPHA:2020 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Optic disc coloboma |
OMIM:169550 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Long foot, Aggressive behavior, Fixated interests, Tics, Talipes equinovarus, Attention... |
OMIM:617788 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Jaundice, Hypop... |
OMIM:618641 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency, Abnormal rib morphology, Abnor... |
ORPHA:93941 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hypo... |
OMIM:228520 |
Pontocerebellar Hypoplasia, Type 8 |
|
Dysphagia, Talipes equinovarus, Cerebellar hypoplasia, Scoliosis, Talipes valgus, Pes cavus |
OMIM:614961 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Facial paralysis, Abnormal finger morphology, Bilateral talipes equinovarus |
ORPHA:2560 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... |
OMIM:610910 |
Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... |
ORPHA:2596 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Optic atrophy |
OMIM:600118 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Apnea, Optic atrophy, Respiratory distress |
ORPHA:79097 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly,... |
ORPHA:2211 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Prolo... |
ORPHA:529808 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Polyhydramnios, Short neck, Edema, Kyphoscoliosis, Abnormal thorax morphology, Postax... |
OMIM:302960 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Prolo... |
ORPHA:529799 |
Martsolf Syndrome 1 |
|
Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Pectus excavatum, Metatar... |
OMIM:212720 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus addu... |
ORPHA:356961 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Sinusitis, Down-sloping shoulders, Tapered finger, Abnormal thumb morpholog... |
ORPHA:1452 |
Atelosteogenesis Type Iii |
|
Polyhydramnios, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypopla... |
ORPHA:56305 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Overweight, Cervical C2/C3 vertebral fusion, Short stature |
ORPHA:370010 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Polyhydramnios, Tapered finger, Aggressive behavior, Dysplastic corpu... |
ORPHA:544488 |
Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Back pain, Paraplegia, Progressive cerebellar... |
ORPHA:99857 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:602501 |
Epidermal Nevus Syndrome |
|
Osteopenia, Thoracolumbar scoliosis, Spinal cord compression, Atrophy of the spinal cord, Progres... |
ORPHA:35125 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Overlapping toe, Down-sloping shoulders, Tapered finger, Short neck, Talipes equin... |
OMIM:617452 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid p... |
OMIM:300232 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Aggressive behavior, Talipes equinovarus, Short palm, Cl... |
ORPHA:85279 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... |
ORPHA:2021 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short neck, Calcaneovalgus deformity, Adducted thumb, Respiratory insufficiency, ... |
ORPHA:562528 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Neonatal r... |
OMIM:119600 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnorma... |
ORPHA:2050 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Exertional dyspnea, ... |
ORPHA:199241 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... |
OMIM:217980 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Lethal Congenital Contracture Syndrome 1 |
|
Edema, Paucity of anterior horn motor neurons, Abnormal thorax morphology, Neonatal death, Wideni... |
OMIM:253310 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Short femur, Metaphyseal spurs, Polyhydramnios... |
OMIM:618188 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Abnormality of the diencephalon, Radial club hand, Holoprosenc... |
ORPHA:2165 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... |
OMIM:610828 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Sh... |
OMIM:151200 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Chromosome Xq13 Duplication Syndrome |
|
Pes planus, Hyperactivity, Aggressive behavior, Metatarsus adductus, Asthma, Talipes equinovarus,... |
OMIM:301069 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Talipes equino... |
ORPHA:250989 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Short neck, Small hand, Elbow flexion contracture, Knee flexion ... |
ORPHA:371364 |
Intellectual Disability-Strabismus Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Polyhydramnios, Short neck,... |
ORPHA:363528 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Facial-lingual fasciculations, Babinski sign, Vocal cord ... |
ORPHA:276244 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, 1-4 toe s... |
OMIM:617201 |
Aspergillosis |
|
Sinusitis, Pneumonia, Eosinophilia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib ... |
ORPHA:1163 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Thoracic kyphoscoliosis, Thoracic scoliosis, Pes planus, Poor wound healing, Pectus excavatum, Hi... |
ORPHA:1900 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Polyhydramnios, Laryngotracheomalacia, Episodic respiratory distr... |
ORPHA:1199 |
Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Abnormally ossified vertebrae, Polyhydramnios, Missing ribs, Hydrocephalus... |
ORPHA:3301 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Toe syndactyly, Decreased response to growth hormone stimulation... |
OMIM:619234 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con... |
ORPHA:2484 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Ne... |
OMIM:602471 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Nonimmune hydrops fetalis, Polyhydramnios, Short ne... |
OMIM:208150 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Polyhydramnios, Edema, Short tubular b... |
OMIM:200610 |
48,Xxxy Syndrome |
|
Pes planus, Down-sloping shoulders, Short neck, Elbow dislocation, Coxa valga, Pulmonary embolism... |
ORPHA:96263 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morphology,... |
ORPHA:139396 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Polyhydramnios, Pectus excavatum, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... |
OMIM:260400 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Polyhydramnios, Facial edema, Atrophy of the spinal cord, Partial agenesis of t... |
ORPHA:86822 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Netherton Syndrome |
|
Urticaria, Asthma, Emphysema, Dehydration |
ORPHA:634 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Decreased body weigh... |
OMIM:609053 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Rahman Syndrome |
|
Talipes equinovarus, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi... |
ORPHA:505237 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Hypoplasia of first ribs, Foot oligodactyly... |
OMIM:154400 |
Congenital Disorder Of Deglycosylation 2 |
|
Sacral dimple, Cerebellar vermis hypoplasia, Genu recurvatum, Ulnar deviation of the hand, Sandal... |
OMIM:619775 |
Chromosome 18Q Deletion Syndrome |
|
Pes planus, Toe syndactyly, Overlapping toe, Decreased response to growth hormone stimulation tes... |
OMIM:601808 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Dehydration |
ORPHA:213 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Self-biting, Talipes equinovarus, Clinoda... |
ORPHA:3306 |
Bruck Syndrome 2 |
|
Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Pectus carinatum, Platyspond... |
OMIM:609220 |
Poems Syndrome |
|
Papilledema, Edema, Pericardial effusion, Metaphyseal sclerosis, Respiratory insufficiency due to... |
ORPHA:2905 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Polyhydramnios, Optic atrophy, Cerebellar hypoplasia, Scoliosis |
ORPHA:329178 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee flexion c... |
OMIM:601559 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Optic atrophy, Respiratory distress, Death in childhood |
OMIM:615597 |
Foix-Alajouanine Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Back pain, Low back pain, Myelopathy, Progres... |
ORPHA:79093 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... |
ORPHA:79138 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narrow foot, Femor... |
OMIM:600920 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Dravet Syndrome |
|
Pes planus, Impulsivity, Pes valgus, Limited knee extension, Obsessive-compulsive trait, Cyanotic... |
ORPHA:33069 |
Developmental And Epileptic Encephalopathy 91 |
|
Talipes equinovarus, Single transverse palmar crease |
OMIM:617711 |
Vacterl/Vater Association |
|
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Polyhydramni... |
ORPHA:887 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, ... |
OMIM:143095 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Dehydration |
OMIM:251000 |
Alg8-Cdg |
|
Brachydactyly, Abnormality of subcutaneous fat tissue, Edema, Optic atrophy, Hydrops fetalis, Tal... |
ORPHA:79325 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Cerebellar vermis hypoplasia, Overlapping toe, Single transverse palmar crease, Tapered finger, A... |
OMIM:617807 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Short neck, Short toe, Pectus carinatum, Talipes equinovarus, Bruising susceptibility |
ORPHA:98791 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Cerebellar gliosis, Tachypnea, Dehydration, Compulsive behaviors, Abnormal temper tantr... |
ORPHA:3008 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyl... |
OMIM:603671 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Congenital Disorder Of Glycosylation, Type Id |
|
Cerebellar atrophy, Long fingers, Optic atrophy, Talipes equinovarus, Clinodactyly, Joint contrac... |
OMIM:601110 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Short stature, Thoracolumbar scoliosis, Thora... |
OMIM:268310 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Pneumonia, Anterior wedging of L2, ... |
OMIM:253200 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Kyphosis, Abnormal rib morphology, Hip dislocation, Dehydration, Genu valgum, R... |
ORPHA:534 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Osteolysis |
ORPHA:494 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly, Agenesis of corpus c... |
OMIM:619980 |
Machado-Joseph Disease Type 1 |
|
Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal cord paralysis, Clum... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal cord paralysis, Clum... |
ORPHA:276241 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... |
ORPHA:958 |
Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Beaded ribs, Respiratory insufficiency, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... |
OMIM:615512 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Megalopapilla |
OMIM:615636 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Ectopic posterior pituitary, Congenital... |
ORPHA:508488 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Autosomal Recessive Spastic Paraplegia Type 59 |
|
Abnormal cerebellum morphology, Talipes equinovarus |
ORPHA:401795 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Optic atrophy, Dysphagia, Paroxysmal bursts of laughter |
ORPHA:391428 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Congenital hip dislocation, Hypoplasia of the pons, Aqueductal stenosis, Hydroceph... |
OMIM:619512 |
Myhre Syndrome |
|
Vertebral fusion, Ataxia, Short stature, Small for gestational age, Short neck, Joint stiffness, ... |
OMIM:139210 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Anorexia, Edema, Jaundice, Tachypnea, Dehydration |
ORPHA:20 |
Cholera |
|
Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation |
ORPHA:173 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Pulmonary edema, A... |
ORPHA:79330 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Abnormal rib morphology, Abnormal form of the... |
ORPHA:52 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis |
ORPHA:803 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Knee contracture, Dysphagia, Respirat... |
OMIM:620278 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Bowing of the long bones, Kyphoscoliosis, Pectus excavatum, Flared metaphysis, Hip dislocation, A... |
OMIM:615349 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Monosomy 18Q |
|
Pes planus, Arachnodactyly, Abnormal palmar dermatoglyphics, Kyphoscoliosis, Tapered finger, Pect... |
ORPHA:1600 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Short neck, Adducted thumb, Hydrops fetalis, Femoral bow... |
OMIM:617022 |
Osteogenesis Imperfecta, Type Xv |
|
Hypoplasia of the pons, Thin ribs, Platyspondyly, Cerebellar hypoplasia, Scoliosis |
OMIM:615220 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramnios |
ORPHA:596 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... |
OMIM:614963 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, ... |
OMIM:620076 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Pes planus, Arachnodactyly, Sandal gap, Respiratory insufficiency, Talipes equinovarus, Scoliosis... |
OMIM:617146 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Tethered cord, Arachnodactyly, Short hallux, Kypho... |
ORPHA:280 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Lumbar scoliosis, Cervical C2/C3 ver... |
OMIM:617796 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Talipes cavus equinovarus |
ORPHA:139485 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Self-injurious behavior, Talipes equinovarus, Holopros... |
ORPHA:261236 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Anencephaly, Optic atrophy, Lobar holoprosencephaly, ... |
ORPHA:564 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Dyspnea, Platyspondyly, Thoracic kyphos... |
OMIM:242900 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating... |
OMIM:609441 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Polyphagia, Dehydration |
ORPHA:95427 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of t... |
ORPHA:1486 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Hydrocephalus, Talipes equinovarus, Scoliosis, Aspiration p... |
OMIM:617053 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Cyanosis, Block vertebrae, Congenital hip dislocatio... |
OMIM:306955 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Blepharospasm, Camptodac... |
ORPHA:233 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Hydrocephalu... |
ORPHA:93473 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Polyhydramnios, Thin ribs, Neonatal death |
OMIM:300219 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Talipes equinovarus, Cerebellar vermis atrophy |
OMIM:616719 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmet... |
ORPHA:35173 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, S... |
OMIM:217100 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Abnormal auditory evoked potentials, Decreased nerve conduct... |
OMIM:601455 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Short thorax, Abnormal... |
ORPHA:582 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal for... |
ORPHA:666 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Lymphedema, Dysplastic corpus callosum, Self-injurious ... |
ORPHA:314679 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Restlessness, Lumbar hyperlordosis, Broad hallux, Short neck, Aggressive... |
ORPHA:251028 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Arachnodactyly, Poor wound healing, Bilateral talipes equinovarus, Talipes equinovarus, Camptodac... |
OMIM:615539 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Short neck, Limited knee flexi... |
OMIM:615065 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Intrinsic hand muscle atrophy, Knee flexion contractur... |
OMIM:615490 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Talipes equinovarus, Adducted thumb |
OMIM:612936 |
Joubert Syndrome 23 |
|
Apnea, Dysplastic corpus callosum, Tachypnea, Polydactyly, Cerebellar dysplasia |
OMIM:616490 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Promin... |
OMIM:612863 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Optic atrophy, Abnormality of peripheral nerve... |
ORPHA:90321 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Joint contracture of the 5th finger, Cerebellar hypoplasia, Clinoda... |
OMIM:614407 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Palpebral edema, Single transverse palmar crease, Apnea, Metatarsus adductus, Jaundice, Optic ner... |
OMIM:214110 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Metaphyseal widening, Bell-shaped thorax, Platyspondyly, Short ribs, Metaphyseal cup... |
OMIM:614524 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pericardial effusion, Hydrocephalus, Anasarca, Peripheral ... |
OMIM:261740 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Lumbar hyperlordosis, Cupped ribs, Metaphyseal widening, Fl... |
OMIM:250420 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Tethered cord, Short stature, Small for gestational age, Kyphosi... |
OMIM:194190 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal ... |
OMIM:271665 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Wheezing, Dehydration, Cough |
ORPHA:171876 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Fusion of the left... |
OMIM:619306 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Genu recurvatum, Overlapping toe, Apnea, Optic atrophy, Hip dislocation, Elbow f... |
OMIM:617301 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... |
OMIM:614299 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Jaundice, Ascites, Dehydration |
ORPHA:1667 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Edema, Polyhydramnios, Short neck, Hypoplasia... |
OMIM:258480 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Short neck, Hydrocephalus, Optic... |
ORPHA:505248 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t... |
OMIM:601356 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Metaphyseal chondrodysplasia, Abnormal rib morphol... |
ORPHA:93317 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Fused cervical vertebrae, Jo... |
OMIM:612852 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Short clavicles |
OMIM:619793 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Death in infancy, Jaundice, Talipes equinovarus |
OMIM:614872 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of the diencephalon, Arachnodactyly |
ORPHA:2720 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Talipes equinovarus |
OMIM:619972 |
Monosomy 9Q22.3 |
|
Hyperactivity, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Palmar pits, Abnormal rib m... |
ORPHA:77301 |
Temtamy Syndrome |
|
Pes planus, Hip dislocation, Short 2nd toe, Talipes equinovarus, Agenesis of corpus callosum, Sel... |
OMIM:218340 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes e... |
OMIM:201170 |
Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Tethered cord, Congenital hip dislocation, Hydrocephalus... |
OMIM:258040 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Limb undergrowth, Narrow chest, Scoliosis, Death in childhood, Neonatal death... |
OMIM:619124 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, Oligohydramnios |
OMIM:616294 |
Melnick-Needles Syndrome |
|
Pes planus, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
De Barsy Syndrome |
|
Cerebellar vermis hypoplasia, Congenital hip dislocation, Kyphoscoliosis, Progeroid facial appear... |
ORPHA:2962 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Optic atrophy |
OMIM:614219 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Kyphoscolios... |
OMIM:309583 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Polyhydramnios, Facial diplegia, Dysphagia, Obsessive-compulsive trait |
OMIM:160900 |
Oligomeganephronia |
|
Branchial cyst, Polydipsia, Optic disc coloboma, Dehydration |
ORPHA:2260 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Lymphedema, Atrophy of the spinal cord, Lateral ventricle dilatation, Sc... |
ORPHA:2822 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Dehydration |
OMIM:610600 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central hypoven... |
ORPHA:293987 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... |
ORPHA:747 |
Vipoma |
|
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Anorexia, Respiratory ins... |
ORPHA:97282 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior |
OMIM:237310 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Asthma, Recurrent pneumonia, Bronchiectasis, Talipes equinovarus, Scoliosis |
OMIM:619752 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Petechiae, Nonimmune hydrops fetalis, Polyhydramnios, Apnea, Dysphagia, Neo... |
OMIM:608013 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cerebellar dysplasia, Death in infancy, Spinal rigidity, Partial absence of cerebe... |
OMIM:613150 |
Larsen-Like Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5th ... |
OMIM:608545 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... |
OMIM:618019 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Recurrent pneumonia, Op... |
OMIM:617303 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Spinal rigidity, Achilles tendon... |
ORPHA:98863 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Hydrops fetalis |
ORPHA:45452 |
Microphthalmia, Syndromic 9 |
|
Neonatal death, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Mgat2-Cdg |
|
Respiratory distress, Pectus excavatum, Kyphosis, Hydrops fetalis, Cerebellar hypoplasia, Scolios... |
ORPHA:79329 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Rib fusion, Hemivertebrae, Dysphagia, Ankle clonus, Scoliosis, Pontine tegmental ca... |
OMIM:614688 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Talipes equinovarus |
OMIM:260300 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Short neck, Vertebral segmentation defect, Clinodacty... |
ORPHA:373 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Short neck, Tibial bowing, Chiari type I malf... |
ORPHA:798 |
Pitt-Hopkins Syndrome |
|
Pes planus, Aganglionic megacolon, Single transverse palmar crease, Short neck, Tapered finger, A... |
ORPHA:2896 |
Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial ... |
OMIM:225500 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Optic Atrophy 11 |
|
Hyperactivity, Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Stereotypical body rocking... |
OMIM:617302 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Talipes cavus equinovarus, Scoliosis |
ORPHA:59135 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Umbilical hernia, Anophthalmia |
ORPHA:1101 |
Aicardi Syndrome |
|
Block vertebrae, Hemiplegia/hemiparesis, Optic disc coloboma, Optic atrophy, Hypertonia, Scoliosi... |
ORPHA:50 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Cerebellar malformation, Agenesis of co... |
ORPHA:137675 |
Stt3B-Cdg |
|
Cerebellar atrophy, Optic atrophy, Respiratory distress |
ORPHA:370924 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Rib fusion, Chiari type I malformation, Syringomyelia, Hand polyd... |
ORPHA:261197 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Aggressive behavior, Dysplastic corpus callosum, Genu valgum, Lateral ventricle dilatat... |
ORPHA:488627 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Overlapping toe, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum,... |
OMIM:123790 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Rhizomelia, Kyphoscoliosis, Short... |
ORPHA:263508 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Pes planus, Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis... |
ORPHA:536545 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Death in infancy, Respiratory distress, Inspiratory stridor, Irregular respir... |
OMIM:604377 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Calf muscle hypertrophy, Talipes equinovarus |
OMIM:616827 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Micromelia, Split hand, Abnormal rib morphology, Oligohydramnios |
ORPHA:2145 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Hydrocephalus, Asthma, Fing... |
ORPHA:8 |
Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Facial palsy, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, S... |
OMIM:607323 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Oligohydramnios |
OMIM:616733 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Dehydration |
ORPHA:556030 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Xerostomia, Pectus carinatum, Talipes equinovarus, ... |
OMIM:100100 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Umbilical hernia, Absent ossification of capital femoral epiphysis, Prolong... |
ORPHA:226313 |
Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Patent ductus arteriosus, Flat acetabular roof, Fused cervical vertebrae, Wormian ... |
OMIM:617159 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Sacral dimple, Postaxial polydactyly, Tapered finger, Lower limb asymmetry,... |
OMIM:300968 |
Rett Syndrome, Congenital Variant |
|
Pes planus, Kyphosis, Tongue thrusting, Talipes equinovarus, Scoliosis, Bruxism, Aspiration, Abno... |
OMIM:613454 |
Tick-Borne Encephalitis |
|
Back pain, Speech apraxia, Stiff neck, Incoordination, Facial palsy, Paralysis, Tremor, Limb pain... |
ORPHA:297 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Long fibula, Narrow chest, Short phalanx of finger, Short metacarpal, Cone-shaped met... |
OMIM:250220 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Respiratory insufficiency, Abnor... |
ORPHA:367 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Aganglionic megacolon, Polyhydramnios, Tapered finger, Hydrocephalus, Talipes equi... |
OMIM:613603 |
Kbg Syndrome |
|
Vertebral fusion, Short stature, Short neck, Delayed skeletal maturation, Vertebral arch anomaly,... |
OMIM:148050 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmon... |
ORPHA:2038 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough |
ORPHA:142 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Jaundice, Nasal flaring, Abnormal respi... |
ORPHA:90051 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Aganglionic megacolon |
ORPHA:1438 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Periodic paralysis |
ORPHA:757 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia |
OMIM:252900 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Short neck, Proximal placement of thumb, Abnormal form of the vertebral bodies, T... |
ORPHA:818 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor wound healing, ... |
OMIM:225400 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Kyphosis, Optic atrophy, Bronchiectasis, Interstitial... |
OMIM:619708 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
Dysosteosclerosis |
|
Sclerotic scapulae, Increased intervertebral space, Optic atrophy, Abnormal metaphyseal trabecula... |
OMIM:224300 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Hyperventilation |
ORPHA:79241 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Intraute... |
ORPHA:1780 |
Superficial Siderosis |
|
Back pain, Ataxia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Babinski sign, Ab... |
ORPHA:247245 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Dyspnea, Clubbing, Pedal edema, Hypoxemia |
ORPHA:439 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity, Abnormal dentate nucleus morphology |
ORPHA:48818 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Hyperextensibility of the finger joints, Syndactyly, Cutis marmorata, Ante... |
OMIM:151050 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Single transverse palmar crease, Epistaxis, Short neck, Asthma, Patellar aplasia, Patellar hypopl... |
ORPHA:495818 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Talipes equinovarus, Scolios... |
OMIM:301040 |
Grant Syndrome |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of... |
ORPHA:2097 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphthalmia |
OMIM:610829 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Joint stiffness, Kyphosis, Spinal rigidity, Achilles tendon contracture... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Joint stiffness, Kyphosis, Spinal rigidity, Achilles tendon contracture... |
ORPHA:98853 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Sacral dimple, Tracheomalacia, Abnormal foot morphology, Cutaneous finge... |
OMIM:601390 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Kyphoscoliosis, Dysphagia |
ORPHA:98805 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Broad me... |
OMIM:166250 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Kleefstra Syndrome |
|
Aggressive behavior, Dyspnea, Self-injurious behavior, Agenesis of corpus callosum, Talipes equin... |
ORPHA:261494 |
Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
Severe Congenital Nemaline Myopathy |
|
Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Abnormal thorax morphology, Thin ribs... |
ORPHA:171430 |
Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Optic disc pallor, Communicating hydrocephalus, Thickened ribs, Pneumonia, Sh... |
ORPHA:309282 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Talipes equinovarus, Short-segment aganglionic megacolon |
OMIM:619465 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Pes planus, Scapular winging, Arachnodactyly, Kyphoscoliosis... |
OMIM:615582 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Brachydactyly, Hyperactivity, Aggressive behavior, Pectus excavatum, Short foot, Ta... |
OMIM:300534 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Kyphosis, Hydrops fetalis, Angiokeratoma corporis d... |
OMIM:230500 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Optic atrophy, Microphthalmia |
OMIM:614424 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios |
ORPHA:261304 |
Mucolipidosis Type Ii |
|
Hip contracture, Respiratory failure requiring assisted ventilation, Limited wrist movement, Kyph... |
ORPHA:576 |
Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Cerebrofaciothoracic Dysplasia |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Short neck, Rib fusion, Hemivertebrae, Vertebral se... |
ORPHA:1394 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Aganglionic megacolon, Postnatal growth retardation, Optic disc coloboma, Verte... |
ORPHA:959 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Pes cavus, Talipes equinovarus |
ORPHA:101150 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Talipes equinovarus, Short neck |
OMIM:616789 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Broad hallux, Short neck, Pectus excavatum, Tapered finger, Short thumb, Chiari type ... |
OMIM:620224 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs, Edema, Pedal edema |
OMIM:152800 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal rib morphology, Respiratory insufficiency, Narrow chest, Emphy... |
ORPHA:436 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Limited... |
OMIM:218040 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Cerebellar cyst |
OMIM:601076 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
1Q41Q42 Microdeletion Syndrome |
|
Talipes equinovarus, Holoprosencephaly |
ORPHA:250999 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Restlessness, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Hyperactiv... |
OMIM:252940 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Neonatal respiratory distress, Ulnar deviation of the hand, Single transverse ... |
OMIM:214100 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Pectus excavatum, Abno... |
ORPHA:2990 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Orthostatic hypotension, Rhinitis, Dehydration |
ORPHA:230 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Sacral dimple, Bowing of the long bones, Apnea, Camptodactyly of finger, Mi... |
ORPHA:3206 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Prominent sternum, Respiratory distress |
ORPHA:2140 |
Carey-Fineman-Ziter Syndrome |
|
Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova... |
ORPHA:1358 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Dehydration |
OMIM:251110 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Decreased response to growth hormone stim... |
OMIM:146510 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Edema, Muscular edema, Acrocyanosis |
ORPHA:3165 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Tongue thrusting, Pica, Stereotypical body rocking, Tics, Talipes equinovarus |
OMIM:617865 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... |
OMIM:245590 |
Cystathioninuria |
|
Talipes equinovarus |
ORPHA:212 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Abnormality of the hand, Abnormal foot morphology,... |
ORPHA:333 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Tapered finger, Hyperlordosis, Abnormal repetitive mannerisms, Aggressive behavior, H... |
OMIM:301066 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Sacral dimple, Ulnar deviation of the hand, Tracheomalacia, Cutaneous sy... |
OMIM:615546 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Pes planus, Sandal gap, Decreased nerve conduction velocity, Abnormal foot morphology, Decreased/... |
ORPHA:477817 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal rib morphology, Micromelia |
ORPHA:2772 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Small cerebellar cortex, Aplasia/Hypoplasia of the phalan... |
ORPHA:79500 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Optic atrophy, Respiratory distress |
ORPHA:254913 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Short neck, Pectus excavatum, Ky... |
OMIM:300966 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypoplasia, Hand monodactyly,... |
OMIM:609945 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ... |
ORPHA:896 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Pes planus, Bowing of the long bones, Genu recurvatum, Single transverse palmar crease,... |
OMIM:130070 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Netherton Syndrome |
|
Hypernatremic dehydration, Allergic rhinitis, Angioedema, Asthma, Hypereosinophilia, Urticaria, C... |
OMIM:256500 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Pes planus, Sacral dimple, Tapered finger, Abnormal limb bone morphology, Hip disl... |
ORPHA:261311 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Neoplasm of the anterior pituitary, Hydrocephalus, Pituita... |
ORPHA:54595 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle ... |
OMIM:618733 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Poliomyelitis |
|
Stiff neck, Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic moveme... |
ORPHA:2912 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Pla... |
OMIM:616229 |
Lathosterolosis |
|
Toe syndactyly, Lumbosacral meningocele, Myelomeningocele, Postaxial hand polydactyly, Postaxial ... |
OMIM:607330 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Edema, Dyspnea, Pneumothorax, Deh... |
ORPHA:79404 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
49,Xxxyy Syndrome |
|
Increased circulating gonadotropin level, Finger clinodactyly, Bilateral talipes equinovarus, Nar... |
ORPHA:261534 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Single transverse palmar crease, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers |
ORPHA:3304 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Pes planus, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly... |
OMIM:610168 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Horizontal ribs, Preaxial polydactyly, Flat ace... |
OMIM:616300 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over... |
OMIM:618142 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Palmoplantar cutis gyrata, Hydrocephalus, Optic atrophy, Palmoplantar kerat... |
ORPHA:1555 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Arachnodactyly, Lo... |
ORPHA:3342 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Shigellosis |
|
Pneumonia, Anorexia, Dehydration, Urticaria, Purpura |
ORPHA:810 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Renpenning Syndrome |
|
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal asphyxia, Dehydration, Adrenocorticotropic hormone excess |
ORPHA:90791 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Optic atrophy |
OMIM:612379 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob... |
ORPHA:99106 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand po... |
OMIM:263520 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot p... |
OMIM:612284 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Adnp Syndrome |
|
Respiratory distress, Broad hallux, Single transverse palmar crease, Sandal gap, Oral-pharyngeal ... |
ORPHA:404448 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal... |
ORPHA:31826 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Dehydration |
ORPHA:92050 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Clinodactyly of the 5th f... |
ORPHA:3068 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Death in infancy, Palpebral edema, Single transverse palmar crease, Metatarsu... |
OMIM:614866 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:228390 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Dehydration |
OMIM:251100 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Optic disc coloboma |
OMIM:120200 |
Tetanus |
|
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... |
ORPHA:3299 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Congenital Myopathy 15 |
|
Osteopenia, Vocal cord paralysis, Joint hypermobility, Camptodactyly |
OMIM:620161 |
Carey-Fineman-Ziter Syndrome 1 |
|
Facial palsy, Tapered finger, Spinal rigidity, Respiratory insufficiency, Pectoralis hypoplasia, ... |
OMIM:254940 |
Adrenomyeloneuropathy |
|
Back pain, Atrophy of the spinal cord, Abnormal spinal cord morphology, Babinski sign, Progressiv... |
ORPHA:139399 |
Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Polyhydramnios, Coxa valga, Long fingers, Thin ribs, Bell-shaped ... |
OMIM:608149 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Tibial bowing, Thin ribs, Scoliosis, Pulmonary arterial hypertensi... |
OMIM:259420 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Dyspnea, Optic atrophy, Respiratory failure, Long foot |
ORPHA:2707 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar creases, Th... |
OMIM:612394 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Optic atrophy, Apnea |
OMIM:261680 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... |
ORPHA:3320 |
Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Dehydration, Agitation, Abnormal autonomic nervous system physiology, Aspirat... |
ORPHA:94093 |
Alg12-Cdg |
|
Sandal gap, Ulnar deviation of the wrist, Polyhydramnios, Edema, Proximal placement of thumb, Lon... |
ORPHA:79324 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Scoliosis, Spasticit... |
ORPHA:500144 |
Monosomy 18P |
|
Microphthalmia, Holoprosencephaly |
ORPHA:1598 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs, Lateral ventricle dila... |
OMIM:617397 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Deep plantar crea... |
ORPHA:96061 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Death in infancy, Respiratory distress, Cyanosis, Apnea, Neonatal respiratory... |
OMIM:618426 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Ascites, Brachydactyly |
OMIM:602361 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Kagami-Ogata Syndrome |
|
Respiratory failure requiring assisted ventilation, Polyhydramnios, Short neck, Kyphoscoliosis, L... |
ORPHA:254519 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy |
ORPHA:289916 |
Charge Syndrome |
|
Brachydactyly, Facial palsy, Polyhydramnios, Talipes, Aqueductal stenosis, Abnormal tibia morphol... |
ORPHA:138 |
Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Polyhydramnios, Pectus excavatum, Hip dislocation, Absent Achilles reflex, Short... |
OMIM:618268 |
Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Lumbar hyperlordosis, Equinus calcaneus, Repetitive compulsive behavior, 2-3 toe s... |
ORPHA:522077 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Optic atrophy |
OMIM:152950 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus |
OMIM:617244 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly... |
OMIM:620029 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Hyperactivity, Aggressive behavior, Avascular necrosis of the capit... |
ORPHA:581 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Optic neuropathy, Optic atrophy, Dehydration, Acrocyanosis |
OMIM:259900 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Dysphagia, Beaking ... |
OMIM:252930 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnor... |
ORPHA:3404 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Paresis of extensor muscles of the big toe, Talipes equinovarus, Compulsive behaviors, Scoliosis,... |
ORPHA:98808 |
Tetrasomy 9P |
|
Aplasia/Hypoplasia of the clavicles, Sacral dimple, Hypoplastic scapulae, Hyperactivity, Missing ... |
ORPHA:3310 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Ulnar deviation of the hand, Polyhydramnios, Cardiorespiratory arrest, S... |
OMIM:616503 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Eosinophilia, Cough, Hydrocephalus, Abnormality of the vertebral... |
ORPHA:228123 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Single transverse palmar crease, Polyhydramnios, Pectus excavatum, Lar... |
ORPHA:254528 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Brachydactyly |
ORPHA:2643 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Polyhydramnios, Respiratory insufficiency d... |
ORPHA:169189 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excava... |
OMIM:249420 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Hip dislocation, Talipes equinovarus, Premature skin wrinkling, Adducted thumb |
OMIM:616603 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma |
ORPHA:1553 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Arachnodactyly, Anterior tibial bowing, Apnea, Aggressive behavior, ... |
OMIM:612313 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis |
ORPHA:43 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Umbilical hernia... |
OMIM:617952 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respi... |
OMIM:252010 |
Distal Deletion 6P |
|
Short foot, Self-injurious behavior, Vertebral segmentation defect, Talipes equinovarus, Scoliosi... |
ORPHA:96125 |
Apert Syndrome |
|
Hydrocephalus, Vertebral segmentation defect, Optic atrophy, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Erythema, Hydrops fetalis, Dehydration, Death in childhood |
OMIM:557000 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... |
OMIM:200980 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest, Dehydration |
ORPHA:31824 |
Chops Syndrome |
|
Short stature, Patent ductus arteriosus, Optic atrophy, Obesity, Tracheomalacia, Cervical C2/C3 v... |
OMIM:616368 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Hyperextensible hand joints, Proportionate short stature, Camptodactyly |
OMIM:227330 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Narrow chest, Agenesis of corpus callosum, Dandy-Walker malformation, Genu varum, Lon... |
OMIM:264090 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short t... |
OMIM:620306 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Short neck, Pectus... |
OMIM:616145 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Dehydration |
ORPHA:79134 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral edema,... |
ORPHA:1546 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:614067 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Optic nerve hypoplasia, Polyh... |
OMIM:620025 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Pectus carinatum, Vertebral segmentation defect, Sh... |
OMIM:312870 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Abnormal eating behavior, Ast... |
ORPHA:209905 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Meier-Gorlin Syndrome 3 |
|
Absent sternal ossification, Aplasia/Hypoplasia of the patella, Dyspnea, Short thorax, Patellar a... |
OMIM:613803 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asthma, Recurrent ... |
OMIM:219700 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Femur fracture, Hydrocephalus, Recurrent pneumonia, Opt... |
OMIM:612301 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Pes planus, Optic nerve hypoplasia, Postaxial polydactyly, Increased nuchal translucency, Branchi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Pes planus, Optic nerve hypoplasia, Postaxial polydactyly, Increased nuchal translucency, Branchi... |
ORPHA:352665 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Broad femoral ... |
ORPHA:488434 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity... |
OMIM:618929 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Optic atrophy |
ORPHA:2526 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Tapered finger |
OMIM:617219 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Microphthalmia, Optic atrophy |
OMIM:615663 |
Kleefstra Syndrome 1 |
|
Single transverse palmar crease, Aggressive behavior, Talipes equinovarus, Compulsive behaviors, ... |
OMIM:610253 |
Marburg Hemorrhagic Fever |
|
Back pain, Anorexia, Aggressive behavior, Nonproductive cough, Jaundice, Dehydration, Bruising su... |
ORPHA:99826 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Short stature, Small for gestational age, Kyphoscoliosis, Hemivertebrae... |
ORPHA:97360 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Pectu... |
OMIM:617137 |
Andersen-Tawil Syndrome |
|
Joint laxity, Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, S... |
ORPHA:37553 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Pec... |
OMIM:272950 |
Aicardi-Goutieres Syndrome 1 |
|
Cerebellar calcifications, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, ... |
OMIM:225750 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Holoprosencephaly, Microphthalmia |
ORPHA:141099 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Hydranencephaly |
|
Optic nerve hypoplasia, Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facial palsy... |
ORPHA:570 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Optic atrophy, Buphthalmos |
OMIM:310600 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Hydrocephalus, Postaxial hand polydactyly, Cervical spine instability, Abnormal s... |
OMIM:609192 |
Classical Ehlers-Danlos Syndrome |
|
Pes planus, Orthostatic hypotension, Prematurely aged appearance, Phalangeal dislocation, Poor wo... |
ORPHA:287 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Eosinophilia, Cough, Asthma, Respiratory insufficiency, Urticaria, Dy... |
ORPHA:183 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Purpura, Crackles, Facial edema, Periorbital edema, Nonproductive cough, Rh... |
ORPHA:319213 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Short neck, Absent radius, Hydrocephalus, Bilateral talipes equ... |
OMIM:614083 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Neonatal respiratory distress, Arachnodactyly, Polyhydramnios, Talipes equinova... |
OMIM:619036 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:494344 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Polyhydramnios, Fetal ascites, Pectus excavatum, Decreased nerve conduction v... |
OMIM:261515 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Dehydration, Adrenocorticotropic hormone excess, ... |
ORPHA:168558 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs, Abnormal metaph... |
ORPHA:583 |
Atrial Septal Defect, Ostium Secundum Type |
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Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Premature Aging Syndrome, Penttinen Type |
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Prominent superficial veins, Brachydactyly, Prematurely aged appearance, Hyperextensibility of th... |
OMIM:601812 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Dehydration, Adrenocorticotropic hormone excess, ... |
ORPHA:289548 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Pituitary cortico... |
ORPHA:652 |
Complete Atrioventricular Septal Defect |
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Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Thickened ribs, Ovoid thoracolumbar vertebrae, Aggressive behavior |
OMIM:252920 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Aspiration pneumonia |
ORPHA:314655 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Vocal cord paralysis, Weight loss, Abnormal glossopharyngeal nerve mor... |
ORPHA:221098 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos |
OMIM:219000 |
Joubert Syndrome 37 |
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Microphthalmia |
OMIM:619185 |
Amoebiasis Due To Free-Living Amoebae |
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Restlessness, Abnormal medulla oblongata morphology, Sinusitis, Facial palsy, Pneumonia, Abnormal... |
ORPHA:68 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Short hallux, Hypoplasia of the pons, ... |
OMIM:620305 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Long foot, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Large hands, Abnormal f... |
ORPHA:500095 |
Trisomy 10P |
|
Thumb contracture, Abnormal auditory evoked potentials, Abnormality of the hand, Abnormal foot mo... |
ORPHA:171929 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Long fingers, Bilateral talipes equinovarus, Cerebellar hypoplasia, Talipes equinovarus, Camptoda... |
OMIM:618343 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus |
OMIM:209770 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Short finger, Tapered finger |
ORPHA:1867 |
Fucosidosis |
|
Kyphosis, Acrocyanosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Pulmonary arterial hypertension, Respiratory distress |
OMIM:619272 |
Cleft Larynx, Posterior |
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Aspiration, Cyanosis |
OMIM:215800 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Death in infancy, Cyanosis, Overlapping toe, Partial agenesis of the corpus callosum, Generalized... |
OMIM:617478 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bila... |
ORPHA:1507 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Single transverse palmar crease, Abnormal curvature of the vertebral column, Tics, Com... |
OMIM:619475 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, Metaphyseal spurs... |
ORPHA:85167 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Genu valgum, Dysphagia, Polydipsia,... |
OMIM:219800 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Pes planus, Kyphoscoliosis, Polyhydramnios, Atlantoaxial instability, Talipes equinovarus, Umbili... |
OMIM:614557 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Death in infancy, Tapered finger, Talipes equinovarus, Triphalangeal thumb, Sh... |
OMIM:618580 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Polyhydramnios, Long fingers, Bilateral t... |
OMIM:617746 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Optic atrophy, Holoprosencephaly, Microphthalmia |
OMIM:253800 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Corneal stro... |
ORPHA:699 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short ribs, S... |
OMIM:252600 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ... |
OMIM:236680 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... |
ORPHA:2769 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Single transverse palmar crease, 4-5 toe syndactyly, 3-5 toe syndactyly, Bilatera... |
OMIM:300707 |
Congenital Enterovirus Infection |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Pleur... |
ORPHA:292 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Myelomeningocele, Hydrocephalus, Optic atrophy, Umbilical hernia, Aniridia, Microph... |
OMIM:305600 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypertonic dehydration |
OMIM:125800 |
Sclerosteosis 1 |
|
Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, 2-3 fi... |
OMIM:269500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... |
OMIM:220110 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Abnormal optic disc morphology |
ORPHA:891 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypertonic dehydration |
OMIM:304800 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Single transverse palmar crease, Oral-pharyngeal dysphagia, S... |
OMIM:615273 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Ankle swelling, Swelling of proximal interphalangeal joint... |
ORPHA:3260 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia, Periodic paralysis |
OMIM:267200 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Friedreich Ataxia 2 |
|
Incoordination, Abnormality of the dorsal column of the spinal cord, Ataxia, Babinski sign, Scoli... |
OMIM:601992 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Neonatal respiratory distress, Dehydration, Oligohydramnios |
ORPHA:96191 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Long thorax, Narrow chest, Abnormal repetitive mannerisms, Recurrent aspira... |
OMIM:616268 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Optic atrophy, Talipes equinovarus, Camptodactyly, Hand clenching, Joint cont... |
OMIM:251300 |
Genitopatellar Syndrome |
|
Hip contracture, Apnea, Patellar aplasia, Knee flexion contracture, Radioulnar synostosis, Talipe... |
ORPHA:85201 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Hypoplasia of the ulna, Lateral clavicle hook, Jaundice, Early ossification of ... |
OMIM:208500 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Pericardial effusion, Tachypnea, Hy... |
ORPHA:555874 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Williams Syndrome |
|
Periorbital edema, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Compulsi... |
ORPHA:904 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Pericardial effusion, Jaundice, Tachypnea |
ORPHA:26793 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Lysosomal Acid Lipase Deficiency |
|
Pulmonary arterial hypertension, Jaundice, Ascites, Dehydration |
ORPHA:275761 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Aganglionic megacolon, Optic atrophy, Self-injurious behavior, Talipes equinova... |
ORPHA:847 |
Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Hemivertebrae, Holoprosencephaly, Paroxysmal bursts of laughter, Mesoaxi... |
ORPHA:672 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Polyhydramnios, Decreased nerve conduction velocity, Respiratory insufficiency,... |
OMIM:615368 |
Popliteal Pterygium Syndrome |
|
Spina bifida occulta, Cutaneous finger syndactyly, Talipes equinovarus |
OMIM:119500 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Pes planus, Decreased response to growth hormone stimulation test, Respiratory insufficiency, Col... |
OMIM:617260 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Coxa valga, Abnormal foot morphology, Vertebral arch anomaly, Ab... |
ORPHA:85184 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Thin ribs, Th... |
ORPHA:2463 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Arthritis, Decreased nerve conduction velocity, Vocal cord paralysis |
ORPHA:397744 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Jaundice, Respiratory distress |
OMIM:231680 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:2556 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Femoral bowing, Stillbirth, Talipes equinovarus, Oligohydramnios |
OMIM:615415 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Polydipsia, Dehydration |
ORPHA:18 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Oromandibular Dystonia |
|
Respiratory distress, Dysphagia, Bruxism |
ORPHA:93958 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Optic atrophy |
OMIM:614222 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Cachexia, Paralysis, Oculomotor apraxia, Spastic paraplegia, Hydrocephalus, Limb ata... |
ORPHA:2072 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Optic atrophy |
OMIM:234050 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Hypertonia, Fasciculations |
ORPHA:682 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Erythema, Stridor, Talipes equinovarus, Hand clenching, Asp... |
OMIM:614653 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Edema, Abnormality of the lower limb, Tachypnea, Abno... |
ORPHA:36234 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Pedal ede... |
ORPHA:980 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia |
ORPHA:2505 |
Criss-Cross Heart |
|
Abnormal thorax morphology, Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Fused cervical verte... |
OMIM:157800 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Occipital Horn Syndrome |
|
Pes planus, Orthostatic hypotension, Short humerus, Broad clavicles, Pectus excavatum, Kyphosis, ... |
OMIM:304150 |
Stromme Syndrome |
|
Microphthalmia, Hydrocephalus, Stillbirth, Optic nerve hypoplasia |
OMIM:243605 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Short stature, Periodic paralysis, Delayed skeletal maturation, Scoliosis, Periodic... |
OMIM:170390 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... |
OMIM:187300 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Polyhydramnios, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia ... |
OMIM:617088 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphysea... |
ORPHA:99646 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis, Scoliosis |
OMIM:223900 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Facial diplegia, Pseudobulbar paralysis, Abnormal glossopharyngeal nerve morp... |
ORPHA:268940 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Microphthalmia, Optic atrophy |
OMIM:610651 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Anorexia, Dehydration, Rhinitis |
ORPHA:2552 |
Alg9-Cdg |
|
Cerebellar atrophy, Ulnar deviation of the hand, Rhizomelia, Short neck, Pericardial effusion, As... |
ORPHA:79328 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... |
OMIM:610915 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Vocal cord paralysis, Op... |
ORPHA:99956 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, C... |
ORPHA:340 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... |
ORPHA:365 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Kyphoscoliosis, Short thumb, Small hand, Telangiectasia, Premature gr... |
OMIM:268400 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:614643 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis, Tracheomalacia, ... |
OMIM:203700 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia |
OMIM:300166 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Optic disc coloboma |
OMIM:608091 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Dyspnea, Wheezi... |
ORPHA:141127 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus |
ORPHA:974 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Pectus excavatum, Talipes equinovarus |
OMIM:177980 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:613001 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Pes planus, Cutis marmorata, Single tr... |
OMIM:303600 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Talipes equinovarus |
OMIM:613744 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Beaded ribs, Bowing of the legs, Enlargem... |
ORPHA:89936 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411629 |
Short Stature With Microcephaly And Distinctive Facies |
|
Death in infancy, Syndactyly, Brachydactyly, Proximal placement of thumb, Talipes equinovarus, Sh... |
OMIM:615789 |
Wrinkly Skin Syndrome |
|
Pes planus, Scapular winging, Congenital hip dislocation, Progeroid facial appearance, Pectus exc... |
OMIM:278250 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Apnea, Hydrocephalus, Abnormal rib morphology, Narrow chest, Chronic rh... |
ORPHA:667 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Single transverse palmar crease, Short neck, Wide distal... |
OMIM:269150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Optic atrop... |
OMIM:236670 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cerebellar vermis hypoplasia, Congenital hip dislocation, Aplasia/Hypoplasi... |
ORPHA:480880 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Progeroid facial appearance, Limited elbow movement, Dyspnea, Thin r... |
OMIM:614008 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Talipes, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow... |
ORPHA:83 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia |
ORPHA:254534 |
Eiken Syndrome |
|
Broad femoral neck, Long thumb, Flat acetabular roof, Fibular hypoplasia, Type A1 brachydactyly, ... |
OMIM:600002 |
Fryns Syndrome |
|
Aganglionic megacolon, Thoracic hypoplasia, Polyhydramnios, Short neck, Single transverse palmar ... |
OMIM:229850 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Optic atrophy |
OMIM:614225 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Pulmonary arterial hypertension, Tachypnea, Horizontal ribs |
OMIM:614857 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema |
OMIM:115197 |
Congenital Myopathy 13 |
|
Kyphoscoliosis, Hypercapnia, Hypoxemia, Restrictive ventilatory defect, Bilateral talipes equinov... |
OMIM:255995 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Cerebellar dysplasia |
OMIM:601374 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Arachnodactyly, Pectus excavatum, Pneumothorax, Talipes equinovarus, Scoliosis, Umbilical hernia,... |
OMIM:601776 |
Renal Hypodysplasia/Aplasia 1 |
|
Talipes equinovarus, Oligohydramnios |
OMIM:191830 |
Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Bilateral talipes equinovarus... |
OMIM:602398 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Abnormality of the knee, Cyanosis, Polyhydramnios, Edema, Pericardial effus... |
ORPHA:51608 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Phace Association |
|
Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
Craniometadiaphyseal Dysplasia |
|
Coxa valga, Flared metaphysis, Genu valgum, Broad ribs, Scoliosis, Cubitus valgus, Genu varum |
OMIM:269300 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb |
OMIM:610536 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia |
ORPHA:223 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon, Abnormal vertebral ... |
ORPHA:210122 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Edema |
ORPHA:97330 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Spinal canal stenosis, Broad palm, Elbo... |
OMIM:608328 |
Seckel Syndrome 9 |
|
Asthma, Talipes equinovarus, Polyhydramnios |
OMIM:616777 |
Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Pedal edema, Abnormal vertebral morphology, Flushing, 2-3 toe synda... |
ORPHA:821 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Native American Myopathy |
|
Respiratory insufficiency, Abnormal curvature of the vertebral column, Talipes equinovarus, Campt... |
ORPHA:168572 |
Micro Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:2510 |
Degcags Syndrome |
|
Syndactyly, Sacral dimple, Toe syndactyly, Chronic lung disease, Pneumonia, Polyhydramnios, Oral-... |
OMIM:619488 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
8P11.2 Deletion Syndrome |
|
Talipes equinovarus, Sacral dimple, Supernumerary ribs |
ORPHA:251066 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411634 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Growth delay, Paralysis |
OMIM:242100 |
Pachyonychia Congenita |
|
Respiratory distress, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Palmar hyperkeratosis... |
ORPHA:2309 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Growth delay, Delayed puberty, Failure to thrive, Chondrocalcinosis |
OMIM:263800 |
Q Fever |
|
Respiratory distress, Pneumonia, Anorexia, Pericardial effusion, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... |
OMIM:164310 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Respiratory insufficiency, Polyhydramnios, Thin ribs |
ORPHA:456328 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Pes planus, Prominent superficial veins, Overlapping toe, Ky... |
OMIM:617402 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Dextrocardia |
|
Abnormal foot morphology, Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Viss Syndrome |
|
Prominent superficial blood vessels, Polyhydramnios, Pectus carinatum, Emphysema, Long toe, Arach... |
OMIM:619472 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Abnormal palmar dermatogly... |
OMIM:214800 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Short neck, Pectus excavatum... |
OMIM:614976 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Xerostomia, Abnormal autonomic nervous system physio... |
ORPHA:1051 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Peda... |
ORPHA:97214 |
Familial Dysautonomia |
|
Orthostatic hypotension, Acrocyanosis, Optic atrophy, Scoliosis |
ORPHA:1764 |
Autosomal Dominant Cutis Laxa |
|
Pes planus, Genu recurvatum, Prematurely aged appearance, Emphysema, Hip dislocation, Bronchiecta... |
ORPHA:90348 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
X-Linked Intellectual Disability, Nascimento Type |
|
Overlapping toe, Aggressive behavior, Hypoplasia of the pons, Clubbing of toes, Short foot, Bilat... |
ORPHA:163956 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlappin... |
ORPHA:83617 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Optic atrophy |
OMIM:618727 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Broad palm, Scoliosis, Broad phalanges of the hand, ... |
OMIM:277600 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Tibialis muscle weakness, Optic atrophy, Talipes equinovarus, Decreased sensory... |
ORPHA:320375 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia |
OMIM:613451 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Absent thumb, Short thumb, Ulnar ... |
OMIM:263650 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Talipes equinovarus, Scoliosis, Knee flexion contracture |
OMIM:118650 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Polyhydramnios, Short neck, Talipes equinovarus, Broad distal p... |
OMIM:300990 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Osteolysis, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity, Os... |
ORPHA:2396 |
Exstrophy-Epispadias Complex |
|
Abnormal joint morphology, Hydrocephalus, Spina bifida |
ORPHA:322 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature fusion of the radial epiphyseal plates, Miscarriage, Dehydration, Hypocapnia |
ORPHA:90794 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Optic nerve compression, Diaphyseal sclerosis, Osteopetrosis, Periodic hypokalemic... |
OMIM:259730 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Loeys-Dietz Syndrome 3 |
|
Pes planus, Arachnodactyly, Protrusio acetabuli, Knee osteoarthritis, Pneumothorax, Dural ectasia... |
OMIM:613795 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Self-mutilation, Oppositional defian... |
OMIM:607872 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, Dyspnea, Pat... |
ORPHA:2554 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Giant somatosensory evoked potentials |
ORPHA:268943 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Single transverse palmar crease, Aggressive behavior, Asthma, Nasal flaring, Dysphagi... |
ORPHA:466943 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Jaundice, Prolonged neonatal jaundice, Ascites |
OMIM:256810 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Parkinsonian-Pyramidal Syndrome |
|
Talipes equinovarus, Abnormal autonomic nervous system physiology, Dysphagia |
ORPHA:171695 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Short palm |
OMIM:244460 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Microphthalmia |
ORPHA:2166 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Cutis marmorata, Talipes equinovarus, Pulmonary arterial hypertens... |
OMIM:100300 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Erythema, Dysphagia, Restrictive ventilatory defect, Cough, Polydipsia |
ORPHA:537 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Brachydactyly, Nonimmune hydrops fetalis, Thin ribs |
OMIM:618265 |
Cocaine Intoxication |
|
Respiratory distress, Hyperventilation, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Pulm... |
ORPHA:90068 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Prominent superficial blood vessels, Cyanosis, Coxa valga, Limi... |
ORPHA:740 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Short stature, Patent ductus arteriosus, Obesity, Tracheomalacia, Cervical C2/C3 v... |
ORPHA:444077 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Tapered finger, Talipes equinovarus, Short palm, Umbilical hernia, Broad thumb |
OMIM:614501 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Aggressive behavior, Long fingers, Talipes equinovarus, Scoliosis, Pulmonar... |
OMIM:613355 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Optic disc coloboma |
ORPHA:568 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Jacobsen Syndrome |
|
Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly, Microphthalmia |
OMIM:147791 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Polyhydramnios, Jaundice, Ascites |
OMIM:617156 |
Pyknoachondrogenesis |
|
Palpebral edema, Micromelia, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs... |
ORPHA:3003 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Fibular hypoplasi... |
OMIM:617925 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Rift Valley Fever |
|
Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Aggressive behavior, Polydactyly |
ORPHA:17 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Branchial anomaly, Anophthalmia, Facial palsy |
OMIM:113620 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Polyhydramnios, Recurrent pneumonia, Bilateral ta... |
OMIM:609465 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Violent behavior, Long foot, Broad 2nd toe, Pectus excavatum, Palmoplantar hyperkeratosis, Contra... |
OMIM:280000 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fingers,... |
OMIM:616263 |
Abetalipoproteinemia |
|
Kyphoscoliosis, Respiratory failure, Talipes equinovarus, Distal lower limb muscle weakness, Pes ... |
ORPHA:14 |
Listeriosis |
|
Back pain, Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Proximal placement of thumb, Deep palmar crease, Talipes equinovarus, Clinodactyly of the 5th fin... |
OMIM:604314 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... |
ORPHA:261112 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Kyphosis, Optic atrophy, Rib fus... |
ORPHA:1606 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Spinal cord compress... |
ORPHA:217085 |
African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myelopath... |
ORPHA:3385 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Polyhydramnios, Patellar aplasia, Dysphagia, Knee fl... |
OMIM:606170 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Pedal edema, Exertional dyspnea |
ORPHA:2299 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Talipes equinovarus |
OMIM:619493 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Talipes equinovarus, Bruxism, Abnorma... |
OMIM:616393 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Polyhydramnios, Dehydration |
OMIM:241200 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Pneumothorax, Hip dislocation, Talipes equin... |
OMIM:617403 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Death in infancy, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing of ... |
OMIM:610682 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Spinal cord compress... |
ORPHA:217093 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Isolated Cleft Lip |
|
Umbilical hernia, Talipes equinovarus, Polyhydramnios |
ORPHA:199302 |
Xylt1-Cdg |
|
Pes planus, Coxa valga, Flared metaphysis, Short femoral neck, Short clavicles, Broad ribs, Clino... |
ORPHA:370930 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Talipes equinovarus, Single transverse palmar crease, Genu varum |
OMIM:619743 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Emphys... |
ORPHA:31204 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Polyhydramnios, Short neck, Pectus excavatum, Postaxial hand polydactyly,... |
OMIM:613610 |
Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly |
OMIM:184705 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Decreased response to growth hormone stimulat... |
ORPHA:273 |
Cohen Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:193 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Supernumerary ribs |
OMIM:613309 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Papillorenal Syndrome |
|
Microphthalmia, Optic disc coloboma |
OMIM:120330 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Dehydration |
ORPHA:47159 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Hydrocephalus, Patent ductus arteriosus, Hemivertebrae,... |
OMIM:164210 |
Hypermobile Ehlers-Danlos Syndrome |
|
Pes planus, Apnea, Decreased nerve conduction velocity, Abnormal foot morphology, Elbow dislocati... |
ORPHA:285 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Optic neuropathy, Increased intervertebral space, Optic atrophy, Diaphysea... |
OMIM:619727 |
Zttk Syndrome |
|
Kyphosis, Dysplastic corpus callosum, Optic atrophy, Rib fusion, Hemivertebrae, Small hand, Short... |
OMIM:617140 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus |
ORPHA:268249 |
Barth Syndrome |
|
Talipes equinovarus |
OMIM:302060 |
Scimitar Syndrome |
|
Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria... |
ORPHA:185 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Pes planus, Hyperactivity, Kyphoscoliosis, Short neck, Tapered finger, Paroxysmal bursts of laugh... |
OMIM:309580 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Fryns Syndrome |
|
Microphthalmia, Aganglionic megacolon |
ORPHA:2059 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... |
OMIM:613458 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Coxa valga, Hip dislocation, Osteolytic defects of the phala... |
OMIM:182250 |
Bartter Syndrome Type 4 |
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Polyhydramnios, Dehydration |
ORPHA:89938 |
8Q21.11 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:284160 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Optic atrophy |
OMIM:201180 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Talipes equinovarus |
OMIM:277380 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Xerostomia, Abn... |
ORPHA:2907 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Urticaria, Interstitial pneumonitis, Pneumonia, Respiratory distress |
ORPHA:37042 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Microphthalmia, Syndromic 6 |
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Microphthalmia, Anophthalmia |
OMIM:607932 |
Bartter Syndrome, Type 1, Antenatal |
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Polyhydramnios, Dehydration |
OMIM:601678 |
Dermatomyositis |
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Abnormal eosinophil morphology, Telangiectasia of the skin, Edema, Periorbital edema, Erythema, R... |
ORPHA:221 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Papilledema |
OMIM:127000 |
Chromosome 8Q21.11 Deletion Syndrome |
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Microphthalmia |
OMIM:614230 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Dysphagia, Hyperventilation |
ORPHA:255210 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia |
OMIM:300952 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Abnormal foot morphology,... |
ORPHA:857 |
Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia |
ORPHA:464 |
Cat Eye Syndrome |
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Microphthalmia, Umbilical hernia |
OMIM:115470 |
2Q31.1 Microdeletion Syndrome |
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Microphthalmia, Optic disc coloboma |
ORPHA:251014 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Myhre Syndrome |
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Abnormal rib morphology, Platyspondyly, Short palm, Abnormal metaphysis morphology, Brachydactyly |
ORPHA:2588 |
Mosaic Trisomy 1 |
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Microphthalmia |
ORPHA:1692 |
Norrie Disease |
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Optic atrophy, Self-injurious behavior, Scoliosis, Attention deficit hyperactivity disorder, Apla... |
ORPHA:649 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Absent thumb, Dyspl... |
ORPHA:500150 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Optic atrophy |
OMIM:308300 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Spontaneous pneumothorax, Repeated pneumothoraces, Pectus excavatum, Pneumothora... |
OMIM:130050 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Cervical ribs, Umbilical hernia, Anterior pituitary agenesis, Oligohydramnios |
ORPHA:2255 |
Distal Deletion 15Q |
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Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Small hand, Hip dislocation, Genu ... |
ORPHA:1596 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Mend Syndrome |
|
Microphthalmia, Hydrocephalus, Abnormal auditory evoked potentials |
ORPHA:401973 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hypoplas... |
OMIM:133540 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abnormality of the peripheral nervous sys... |
ORPHA:48435 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Microphthalmia |
OMIM:253280 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Erythema, Abnormal rib morphology, Palmoplantar kerat... |
ORPHA:2908 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sandal gap, Progeroid facial appearance, Decreased fibular diameter, Pectus excavatum, Palmoplant... |
OMIM:619127 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Polyhydram... |
ORPHA:1662 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:309801 |
Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Scoliosis, Prolonged neonatal jaundice |
ORPHA:51 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Hydrocephalus |
OMIM:227646 |
Renal Agenesis |
|
Talipes equinovarus, Oligohydramnios |
ORPHA:411709 |
Barber-Say Syndrome |
|
Clinodactyly of the 5th finger, Premature skin wrinkling, Talipes equinovarus, Brachydactyly |
OMIM:209885 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia, Holoprosencephaly |
OMIM:613884 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Gitelman Syndrome |
|
Pericardial effusion, Polydipsia, Salt craving, Respiratory distress |
ORPHA:358 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Holoprosencephaly |
ORPHA:1052 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Holoprosencephaly |
ORPHA:3186 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
Monosomy 13Q14 |
|
Microphthalmia, Holoprosencephaly |
ORPHA:1587 |
Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3427 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Prolonged neonatal jaundice, Butt... |
OMIM:118450 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Leptospirosis |
|
Respiratory distress, Papilledema, Anorexia, Jaundice, Cough, Pleural effusion |
ORPHA:509 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Microphthalmia |
OMIM:249000 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Pmm2-Cdg |
|
Respiratory distress, Pes planus, Cerebellar vermis hypoplasia, Elevated circulating growth hormo... |
ORPHA:79318 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Aganglionic megacolon, Optic disc coloboma |
OMIM:309800 |
Primary Sjögren Syndrome |
|
Cutis marmorata, Lymphocytic interstitial pneumonia, Abnormality of the peripheral nervous system... |
ORPHA:289390 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Microphthalmia, Optic disc coloboma, Facial palsy |
OMIM:620186 |
Truncus Arteriosus |
|
Cyanosis, Tachypnea, Aplasia/hypoplasia involving bones of the extremities, Pulmonary edema |
ORPHA:3384 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Optic atrophy |
OMIM:616975 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Lobar holoprosencephaly |
ORPHA:468631 |
Tyrosinemia, Type I |
|
Hypophosphatemic rickets, Failure to thrive, Growth delay, Periodic paralysis |
OMIM:276700 |
Cockayne Syndrome Type 3 |
|
Microphthalmia, Optic disc pallor, Abnormality of peripheral nerve conduction |
ORPHA:90324 |
Holoprosencephaly 1 |
|
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Increased cup-to-disc ratio |
OMIM:211380 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow chest... |
OMIM:614748 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Trichothiodystrophy |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:33364 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:273395 |
Primary Hyperoxaluria |
|
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata |
ORPHA:416 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hydrops fetalis, Edema |
OMIM:212093 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Fontaine Progeroid Syndrome |
|
Neonatal death, Microphthalmia, Hydrocephalus, Umbilical hernia |
OMIM:612289 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly... |
OMIM:200110 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Cockayne Syndrome |
|
Decreased nerve conduction velocity, Microphthalmia, Optic atrophy, Optic disc pallor |
ORPHA:191 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia |
OMIM:620005 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Plague |
|
Respiratory distress, Edema, Anorexia, Abnormality of the elbow, Acute infectious pneumonia |
ORPHA:707 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Tremor, Osteoporosis, Weight loss, Delayed puberty, Periodic hypokalemic paresis |
ORPHA:91347 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Hypoplasia of the iris, Peripapillary atrophy, Microphthalmia, Facial paralysis |
OMIM:175780 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pectus excavatum, Cranial nerve compression, Optic atrophy, Pulmonary arterial hypertension, Prom... |
ORPHA:2785 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos |
ORPHA:93325 |
Holoprosencephaly 2 |
|
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Prematurely aged appearance, Telangiectasia of the skin, Pectus excav... |
ORPHA:286 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Yunis-Varon Syndrome |
|
Microphthalmia, Hydrocephalus, Bilateral microphthalmos |
ORPHA:3472 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Alström Syndrome |
|
Respiratory distress, Optic disc pallor, Thoracic scoliosis, Pes planus, Dorsocervical fat pad, D... |
ORPHA:64 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:619539 |
Penile Agenesis |
|
Atrophy of the spinal cord, Bilateral talipes equinovarus, Oligohydramnios |
ORPHA:49 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Witteveen-Kolk Syndrome |
|
Microphthalmia, Branchial fistula |
OMIM:613406 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia, Stillbirth, Frontal encephalocele, Hydrocephalus |
OMIM:268300 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Aganglionic megacolon |
OMIM:235730 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Microphthalmia, Optic atrophy, Aganglionic megacolon |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Aganglionic megacolon |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Aganglionic megacolon |
ORPHA:2152 |