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Gene: Fkbp8 MGI:1341070

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
FK506 binding protein 8
Synonyms:
Fkbp38,  38kDa

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fkbp8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fkbp8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
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
Microphthalmia, Anophthalmia OMIM:616428
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Caudal Duplication
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
Spinal dysraphism OMIM:601634
Nevus Comedonicus Syndrome
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
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity, Scoliosis, Dysphagia ORPHA:363717
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Perching Syndrome
Respiratory distress, Cyanosis, Scoliosis, Dysphagia, Camptodactyly OMIM:617055
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation... OMIM:207950
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Acalvaria
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
Hyperlordosis, Kyphosis, Hydrocephalus, Agenesis of corpus callosum, Talipes equinovarus, Pes cav... OMIM:303350
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
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, Rodríguez 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
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
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Premature Aging Syndrome, Penttinen Type
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
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Pituitary cortico... ORPHA:652
Complete Atrioventricular Septal Defect
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
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
Microphthalmia OMIM:619185
Amoebiasis Due To Free-Living Amoebae
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
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
Aspiration, Cyanosis OMIM:215800
Structural Heart Defects And Renal Anomalies Syndrome
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
Polyhydramnios, Dehydration ORPHA:89938
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Optic atrophy OMIM:201180
Methylmalonic Aciduria And Homocystinuria, Cblf Type
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
Microphthalmia, Anophthalmia OMIM:607932
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration OMIM:601678
Dermatomyositis
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
Microphthalmia OMIM:614230
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Dysphagia, Hyperventilation ORPHA:255210
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Townes-Brocks Syndrome
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
Microphthalmia, Umbilical hernia OMIM:115470
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma ORPHA:251014
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Myhre Syndrome
Abnormal rib morphology, Platyspondyly, Short palm, Abnormal metaphysis morphology, Brachydactyly ORPHA:2588
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Norrie Disease
Optic atrophy, Self-injurious behavior, Scoliosis, Attention deficit hyperactivity disorder, Apla... ORPHA:649
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
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
Pulmonary bulla, Spontaneous pneumothorax, Repeated pneumothoraces, Pectus excavatum, Pneumothora... OMIM:130050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Cervical ribs, Umbilical hernia, Anterior pituitary agenesis, Oligohydramnios ORPHA:2255
Distal Deletion 15Q
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fkbp8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fkbp8.

No publications found that use IMPC mice or data for Fkbp8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fkbp8tm278178(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fkbp8tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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