Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ribosomal protein S7
Synonyms:
S7,  Mtu

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Rps7 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.

The table below shows human diseases associated to Rps7 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Rps7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ky... OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Thick eyebrow, Radioulnar synos... ORPHA:3268
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Spondylocostal Dysostosis 5
Severe short stature, Pectus carinatum, Butterfly vertebrae, Supernumerary ribs, Missing ribs, Sh... OMIM:122600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral segmentation defect, Short long bone, Short thorax, Vertebral fusion,... OMIM:618845
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Vertebral fusion OMIM:251250
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnorm... ORPHA:66637
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... OMIM:609052
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, H... OMIM:113000
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... OMIM:613686
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... OMIM:613702
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal epiphysis morphol... ORPHA:93267
Metatropic Dysplasia
Severe short stature, Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Verheij Syndrome
Short 5th finger, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Joint hypermobil... OMIM:615583
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Kbg Syndrome
Delayed skeletal maturation, Cervical ribs, Persistent open anterior fontanelle, Finger clinodact... ORPHA:2332
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus callosum, Microphthalmia, R... OMIM:616570
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Alopecia, Limitation of joint mobility, Ecto... ORPHA:337
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hy... OMIM:300863
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Periventricular heterotopia, Thoracic scoliosis, Lumbar scoliosi... OMIM:616171
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Postnatal growth retardation, Butterfly vertebrae, A... OMIM:206900
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Abnormality iris morphology, Camptoda... ORPHA:1617
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Facial hypertrichosis, Hypertrichosis, Overlapping toe, Kyphoscoliosis,... OMIM:600118
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Multiple cafe-au-la... ORPHA:1445
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormal hip bone morphology, Sho... ORPHA:2522
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Barrel-shaped chest, Short neck,... OMIM:178110
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ... ORPHA:1801
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... ORPHA:90650
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Aicardi Syndrome
Block vertebrae, Small hand, Ventriculomegaly, Sparse lateral eyebrow, Chorioretinal coloboma, Op... ORPHA:50
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Short neck, Col... OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Ventriculomegaly, Elbow contracture, Hyperlordosis, Achilles tendon contracture, Pachygyria, Vert... OMIM:606612
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibi... OMIM:312150
Cofs Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Joint stiffness, Abnormality of retinal... ORPHA:1466
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Short stature, Abnormal sacrum morphology, Scoliosis, Shor... ORPHA:1436
Basal Cell Nevus Syndrome 1
Short 4th metacarpal, Iris coloboma, Short distal phalanx of the thumb, Vertebral wedging, Abnorm... OMIM:109400
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal... OMIM:610017
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... OMIM:244600
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion... ORPHA:313892
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Iris coloboma, 11 pairs of ribs, Anophthalmia, Agenesis of corpus ... ORPHA:77298
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Optic... OMIM:169550
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibi... OMIM:253290
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Abnormality of the calc... ORPHA:163966
Bresek Syndrome
Iris coloboma, Alopecia, Growth delay, Intrauterine growth retardation, Neonatal death, Hydroceph... ORPHA:85284
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Sprengel anomaly, Abnormal l... OMIM:118100
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, High anterior hairline, Finger syndactyly, Camptodactyly of finger, ... ORPHA:915
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Absent phalangeal crease, Fused thoracic vertebrae, Antecubital pterygium, Tarsal syn... OMIM:618469
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Sprengel anomaly, Scoliosis,... OMIM:214300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Dispro... ORPHA:93351
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Aplasia/hypoplasia of the femur, Lo... ORPHA:2839
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hydrocephal... ORPHA:2169
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... ORPHA:168549
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Postnatal growth retardation, Microphthalm... OMIM:304050
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia OMIM:233270
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Clinodactyly of the 5th finger, Postaxi... ORPHA:2916
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus, Abnormal rib morpholo... ORPHA:2435
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Hypoplastic thumbnail, Short distal phalanx of finger, Short distal phalanx of the thumb, Broad t... ORPHA:370010
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Familial Congenital Mirror Movements
Fused cervical vertebrae, Agenesis of corpus callosum ORPHA:238722
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ... ORPHA:628
Gorlin Syndrome
Abnormal vertebral morphology, Iris coloboma, Vertebral wedging, Abnormal rib morphology, Melanoc... ORPHA:377
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Intrauterine growth retardation, Microphthalmia, Abnormality of the cervical sp... ORPHA:48431
Juberg-Hayward Syndrome
Severe short stature, Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short... ORPHA:2319
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Abnormal sacrum morphology, Abnormal rib morphology, Intrauterine growth re... ORPHA:1797
Microphthalmia, Syndromic 13
Chorioretinal coloboma, Kyphoscoliosis, Microphthalmia, Short stature, Iris coloboma OMIM:300915
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Short middle phalanx o... OMIM:309620
Fibrodysplasia Ossificans Progressiva
Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossi... OMIM:135100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Type II lissencephaly, Death in childhood, Low anterior hairline, Agenesis of c... OMIM:613153
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth reta... OMIM:609053
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Disproportionate short stature, Hypoplastic iliac wing, Lumbar hyperlordosis, Enla... OMIM:609616
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Ventriculomegaly, Increased mean corpuscular volume, Colpocephaly, Abnorma... ORPHA:261250
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Recurrent fractures, ... OMIM:259440
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Pierpont Syndrome
High anterior hairline, Abnormal cortical gyration, Ventriculomegaly, Short toe, Prominent finger... ORPHA:487825
Cat-Eye Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Microphthalmia, Abnormal rib morphology,... ORPHA:195
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... OMIM:620601
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Narrow chest, Slender finger, Delayed patellar ossification, Wide p... ORPHA:163649
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Microphthalmia, Short metacarpal, Ov... ORPHA:85167
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Alopecia, Abnormal thorax morphology, Anophthalmia, Agenesis of corpu... OMIM:164180
Koolen-De Vries Syndrome
Iris hypopigmentation, Slender finger, Ventriculomegaly, Kyphosis, Prominent fingertip pads, Fair... OMIM:610443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Type II lissencephaly, Agenesis of corpus callosum, Coloboma, Hydrocephal... OMIM:615249
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Atelosteogenesis, Type I
Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Encephalocele, Neonatal de... OMIM:108720
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Ventriculomegaly, Elbow flexion contracture, Death in childhood, K... OMIM:214150
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Postnatal growth retardation, Overlapping toe, Low posterior hairline, Shor... OMIM:213980
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Intrauterine growth retardation, Neonatal death, Bowing of the long bones, D... OMIM:619751
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Cerebrooculofacioskeletal Syndrome 4
Death in childhood, Dislocated radial head, Hip dislocation, Bilateral microphthalmos, Polymicrog... OMIM:610758
Curry-Jones Syndrome
Ventriculomegaly, Toe syndactyly, Broad thumb, Finger syndactyly, Optic disc coloboma, Preaxial h... ORPHA:1553
Spondylo-Ocular Syndrome
Platyspondyly, Iris hypopigmentation, Abnormal eyebrow morphology, Joint hypermobility, Low poste... ORPHA:85194
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Ventriculomegaly, Chorioretinal coloboma, Pachygyria, Postnatal growth ret... OMIM:243310
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature... OMIM:608681
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Lateral Meningocele Syndrome
Coarse hair, Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermo... OMIM:130720
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Albinism, Hypopigmentation of the skin, Short stature, Osteoporosis, Hypopigmentat... ORPHA:2786
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Agenesis of corpus callosum, Short neck, Ce... ORPHA:508498
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Beaking of vertebral bodies, Short metacarpal,... OMIM:150250
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Platyspondyly, Limitation of joint mobility, Coxa vara, Flared, irregular r... ORPHA:168555
Koolen-De Vries Syndrome
Ventriculomegaly, Kyphosis, Vertebral segmentation defect, Joint hypermobility, Arachnodactyly, V... ORPHA:96169
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Coloboma, Hemivertebrae, Short st... OMIM:619318
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Short 1st metacarpal, Chorioretinal coloboma, Postnatal growth retardation... OMIM:619135
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of hair, Lymphope... OMIM:127550
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Growth delay, Agenesis of corpus callosum OMIM:274270
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Squared iliac bones, Umbilical hernia, Knee dislocation, Thin eyebrow, Thoracic scoli... OMIM:618000
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Squared iliac bones, Disproportionate short-limb short stature, Thoracic hypoplasi... OMIM:608728
X-Linked Dominant Chondrodysplasia Punctata
Abnormality of the nail, Sparse eyebrow, Hypoplastic cervical vertebrae, Coarse hair, Epiphyseal ... ORPHA:35173
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportiona... ORPHA:239
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Iris coloboma, Alopecia, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper lim... ORPHA:88630
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Ventriculomegaly... OMIM:187601
Shashi-Pena Syndrome
Highly arched eyebrow, Ventriculomegaly, Hypertrichosis, Intrauterine growth retardation, Long ey... OMIM:617190
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Hydrocephalus, Frontal encephalocele, Microphthalmia, Craniosynostos... ORPHA:1528
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... OMIM:618395
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Agenesis of corpus callosum, Low posterior hairline, Radioulnar synostosis, Sho... OMIM:194190
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process, Dispro... OMIM:184250
Kahrizi Syndrome
Elbow contracture, Knee flexion contracture, Short stature, Iris coloboma, Thoracic kyphosis OMIM:612713
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Thorac... OMIM:616549
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microphthalmi... OMIM:614833
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ectopia pupillae, Postnatal growth retardation, Microphthalmia, Hypoplastic inferior ilia, Short ... OMIM:608940
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Ventriculomegaly, Preaxi... ORPHA:1988
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hypomelanosis Of Ito
Alopecia, Clinodactyly, Radial deviation of finger, Macular hypopigmented whorls, streaks, and pa... OMIM:300337
Myhre Syndrome
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, ... OMIM:139210
Cartilage-Hair Hypoplasia
Absent pubertal growth spurt, Hypoplasia of the odontoid process, Lymphopenia, Sparse eyelashes, ... OMIM:250250
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Cervical ribs, Absent radius, Tibial torsion, Fibular aplasia, Ap... ORPHA:3320
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n... OMIM:148050
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Stippled calcification in carpal bones, Sparse eyelashes, Short nec... OMIM:302960
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microphthalmia/Coloboma 4
Coloboma, Microphthalmia OMIM:251505
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Coloboma, Brachydactyly, Microphthalmia, Short stature, Iris coloboma, Syndactyly OMIM:610023
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... ORPHA:1486
Joint Laxity, Short Stature, And Myopia
Pectus carinatum, Multiple joint dislocation, Cervical kyphosis, Chorioretinal coloboma, Umbilica... OMIM:617662
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... OMIM:271520
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Abnormality iris morphology, Polymicrogyria, Type II l... ORPHA:370959
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphology, Short nec... ORPHA:251014
Thanatophoric Dysplasia, Type I
Neonatal death, Bowing of the long bones, Short neck, Short greater sciatic notch, Small abnormal... OMIM:187600
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ... OMIM:151200
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosum, Missing ribs, Hydrocephalus... ORPHA:3301
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Camptodactyly of finger, Intrauterine growth retardation, Death in childhood, Kyphos... OMIM:610756
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... OMIM:136760
Mosaic Trisomy 20
Narrow chest, Clinodactyly, Spinal canal stenosis, Intrauterine growth retardation, Vertebral seg... ORPHA:1724
Linear Verrucous Nevus Syndrome
Genu recurvatum, Ventriculomegaly, Toe syndactyly, Reduced bone mineral density, Aplasia/Hypoplas... ORPHA:2611
Kapur-Toriello Syndrome
Iris coloboma, Joint contracture of the hand, Short thumb, Camptodactyly of finger, Retinal colob... OMIM:244300
Duane Retraction Syndrome
Hypopigmented skin patches, Chorioretinal coloboma, Low posterior hairline, Aplasia/Hypoplasia of... ORPHA:233
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Broad ribs, Osteomyelitis, Splenomegaly, Joint swelling, Flaring of rib ... OMIM:612852
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f... OMIM:260660
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Toenail dysplasia, Short toe, Umbilical hernia, Apla... OMIM:615297
Biemond Syndrome Type 2
Preaxial polydactyly, Coloboma, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature ORPHA:141333
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... ORPHA:90652
Trisomy 13
Iris coloboma, Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Intrauterine g... ORPHA:3378
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Sparse body hair, Sh... ORPHA:2234
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Advanced tarsal ossification, Sho... OMIM:215045
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Low posterior hairline, Short neck, Abnormal rib morphology, Short... ORPHA:2578
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,... ORPHA:2616
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, White forelock, J... ORPHA:2475
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Short neck, Thoracol... OMIM:265000
Wildervanck Syndrome
Low posterior hairline, Meningocele, Fused cervical vertebrae, Short neck ORPHA:3456
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Coloboma, Hydrocephalus, Microp... ORPHA:324416
Lamb-Shaffer Syndrome
Thoracic kyphosis, Mild postnatal growth retardation, Hip dysplasia, Scoliosis, Fused cervical ve... ORPHA:530983
Pierpont Syndrome
High anterior hairline, Prominent fingertip pads, Short toe, Short finger, Short neck, Microphtha... OMIM:602342
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus ca... OMIM:615771
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Ventriculomegaly, Cone-shaped epiphysis, Growth delay, Short toe, Broad hallux, Short finger, Per... OMIM:618659
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Oligodactyly, Intrauterine growth retardation, Humerorad... OMIM:251230
Bone Marrow Failure Syndrome 3
Aplastic anemia, Small nail, Increased mean corpuscular volume, Persistence of hemoglobin F, Panc... OMIM:617052
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportio... OMIM:253000
Holt-Oram Syndrome
Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A... ORPHA:392
Cole-Carpenter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Abnormal metaph... ORPHA:2050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia, Premature graying of hair OMIM:620367
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Cohen Syndrome
Finger syndactyly, Genu valgum, Arachnodactyly, Neutropenia, Microphthalmia, Iris coloboma, Long ... ORPHA:193
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Premature graying of hair, Myelomeningocele, Partial albinism, Thick eye... OMIM:193500
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology, Anemia, Multiple cafe-au-lait spots, Neutropenia, Thro... OMIM:614082
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske... OMIM:602111
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma, Microphthalmia OMIM:613094
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... OMIM:228520
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp... ORPHA:582
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... OMIM:300232
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... OMIM:187760
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin... ORPHA:3027
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Type B brachydactyly, Absent distal phalanges, Bifid distal ph... OMIM:120400
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Craniofacial hyperostosis, Short distal phalanx of finger, Short tho... ORPHA:2484
Temtamy Syndrome
Short toe, Chorioretinal coloboma, Joint hypermobility, Brachydactyly, Microphthalmia, Clinodacty... ORPHA:1777
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Frontal encephalocele, Microphthalmia, Craniosynostosis, Lissencepha... OMIM:218670
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Missing ribs, Low posterior hairline, Coloboma, Hydrocephalus, H... OMIM:220210
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Camptodactyly o... ORPHA:2311
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... ORPHA:2180
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... OMIM:614524
Cantú Syndrome
Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Paten... ORPHA:1517
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Scoliosis, Neutropenia OMIM:612562
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Aniridia, Death in infancy, Decreased skull ossi... OMIM:602361
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Short s... OMIM:615220
Martsolf Syndrome 1
Abnormal toenail morphology, Low posterior hairline, Broad fingertip, Microphthalmia, Finger join... OMIM:212720
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology, Aplasia/Hypoplasia af... ORPHA:1703
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Intrauterine growth retardation, Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodact... OMIM:617333
Achondrogenesis, Type Ii
Abnormally large globe, Disproportionate short-limb short stature, Broad long bones, Short tubula... OMIM:200610
Developmental Delay With Variable Neurologic And Brain Abnormalities
Sparse lateral eyebrow, Knee flexion contracture, Down-sloping shoulders, Cubitus valgus, Microph... OMIM:619694
Congenital Hydrocephalus
Abnormal cortical gyration, Ventriculomegaly, Macular hypoplasia, Colpocephaly, Hydrocephalus, Ir... ORPHA:2185
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Ventriculomegaly, Clinodactyly, Sparse medial eyebrow, Intrauterine growth... OMIM:618804
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Curry-Jones Syndrome
Iris coloboma, High anterior hairline, Broad thumb, Ventriculomegaly, Unicoronal synostosis, Prea... OMIM:601707
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Abnormal sternum morphology, Postnatal gro... OMIM:248700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intrauterine growth retardation, Splenomegaly, Tibial bowing, Lower limb undergrow... ORPHA:3035
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Polydactyly, Joint hypermobility, Hydrocephalus, Microphthalmia... OMIM:602501
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Aplasia/Hypoplasia affecting the eye, Neutropen... ORPHA:175
Microphthalmia, Lenz Type
Iris coloboma, Abnormal clavicle morphology, Finger syndactyly, Chorioretinal coloboma, Camptodac... ORPHA:568
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos... ORPHA:93352
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Small nail, Supernumerary nipple, Agenesis of cor... ORPHA:373
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Microphthalmia, Synophrys ORPHA:261272
Duane-Radial Ray Syndrome
Absent thumb, Short thumb, Sandal gap, Retinal coloboma, Absent radius, Preaxial polydactyly, Opt... OMIM:607323
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho... OMIM:166210
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Abnormal enchondral ossificat... ORPHA:93298
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis... ORPHA:2097
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Dec... ORPHA:2772
Kapur-Toriello Syndrome
Retinal coloboma, Polymicrogyria, Dysplastic corpus callosum, Short neck, Microphthalmia, Pachygy... ORPHA:2328
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... ORPHA:2876
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Congenital contracture, Type II lissencephaly, Encephalocele, Death in infancy,... OMIM:613150
Rere-Related Neurodevelopmental Syndrome
Ventriculomegaly, Chorioretinal coloboma, Postnatal growth retardation, Intrauterine growth retar... ORPHA:494344
Temtamy Syndrome
Highly arched eyebrow, Ventriculomegaly, Chorioretinal coloboma, Agenesis of corpus callosum, Bra... OMIM:218340
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Hypertrichosis, Butterfly vertebrae, Low posterior hairline, Sprengel anomaly, Cafe-au-lait spot,... OMIM:619227
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Ventriculomegaly, Short thumb, Preaxial hand polydactyly, Abnorma... ORPHA:1120
Mucopolysaccharidosis, Type Iiia
Coarse hair, Umbilical hernia, Joint stiffness, Splenomegaly, Hirsutism, Ovoid thoracolumbar vert... OMIM:252900
1Q21.1 Microdeletion Syndrome
Iris coloboma, Toe syndactyly, Broad thumb, Intrauterine growth retardation, Clinodactyly of the ... ORPHA:250989
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthalmia, Microphth... OMIM:206920
Linear Nevus Sebaceus Syndrome
Genu recurvatum, Alopecia, Irregular hyperpigmentation, Growth delay, Ventriculomegaly, Melanocyt... ORPHA:2612
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Perisylvian polymicrogyria, Ethmoidal encephalocele, Abnormal rib ... ORPHA:280195
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar... ORPHA:79345
Sifrim-Hitz-Weiss Syndrome
Ventriculomegaly, Short clavicles, Wormian bones, Tapered finger, Short stature, Flat acetabular ... OMIM:617159
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Abnormal hair morphology, Abnormal thorax morphology, Short neck, Hip dysplasia, Sh... OMIM:601427
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Diamond-Blackfan Anemia 1
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Per... OMIM:105650
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatation, Postnatal g... OMIM:611209
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co... OMIM:616943
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Proximal/middle sympha... OMIM:184460
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Osteogenesis Imperfecta, Type Iii
Thin ribs, Neonatal short-limb short stature, Disproportionate short-limb short stature, Kyphosis... OMIM:259420
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Jeune Syndrome
Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho... ORPHA:474
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s... OMIM:200600
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Long eyelashes, Femoral bowing, Biconcave vertebral bodies, Joint hy... OMIM:617952
Srd5A3-Cdg
Spotty hyperpigmentation, Optic disc hypoplasia, Hypertrichosis, Microcytic anemia, Coloboma, Abn... ORPHA:324737
Oculofaciocardiodental Syndrome
Iris coloboma, Highly arched eyebrow, Short thumb, Genu valgum, Flexion contracture of the 4th to... ORPHA:2712
Fanconi Anemia, Complementation Group R
Absent thumb, Growth delay, Radial dysplasia, Hydrocephalus, Microphthalmia, Anemia, Scoliosis OMIM:617244
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Polymicrogyria, 11 pairs of ribs, Encephalocele, Agenesis of corpus c... OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Encephalocele, ... OMIM:614643
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Joint hypermobility, Supernumerary ribs, Six lumbar vertebrae, Scapular win... OMIM:619122
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Fair hair, Intrauterine growth retardation, Short metacarpal, Blue irides,... OMIM:614613
Becker Nevus Syndrome
Pectus carinatum, Hypermelanotic macule, Supernumerary nipple, Abnormal tibia morphology, Rib fus... ORPHA:64755
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Ventriculomegaly, Abnormal epiphysis morphology, Delayed skeletal maturatio... ORPHA:2643
Congenital Toxoplasmosis
Ventriculomegaly, Intrauterine growth retardation, Abnormality of retinal pigmentation, Hydroceph... ORPHA:858
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ... OMIM:259770
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Cerebrofaciothoracic Dysplasia
Narrow chest, Coarse hair, Ventriculomegaly, Thick eyebrow, Vertebral segmentation defect, Rib fu... ORPHA:1394
Stevenson-Carey Syndrome
Joint contracture of the hand, Microphthalmia, Coloboma, Hip dysplasia, Camptodactyly, Scoliosis OMIM:611961
Meckel Syndrome, Type 8
Narrow chest, Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Short neck, Micr... OMIM:613885
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Disproportionate short stature, Cone-shaped epiphysis, Abnormal scap... ORPHA:93317
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bones, Osteopenia,... OMIM:613848
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Clinodactyly of the 5th finger, Down-sloping shoulders, Proportiona... OMIM:227330
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist... ORPHA:73230
Dysosteosclerosis
Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver... OMIM:224300
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Joint stiffness, Splenomegaly, Kyphoscoliosis, Hirsutism, Ovoid thor... OMIM:252930
Monosomy 18P
Alopecia, Kyphoscoliosis, Low posterior hairline, Short neck, Brachydactyly, Microphthalmia, Shor... ORPHA:1598
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyph... OMIM:616294
Craniodiaphyseal Dysplasia
Short stature, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... ORPHA:1826
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Decreased calvarial ossification, Multiple r... OMIM:616229
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Reduced bone mineral den... ORPHA:1488
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... ORPHA:2788
Gm1-Gangliosidosis, Type I
Severe short stature, Hypertrichosis, Intrauterine growth retardation, Joint stiffness, Splenomeg... OMIM:230500
Humero-Radial Synostosis
Limitation of joint mobility, Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist... ORPHA:3265
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, Beaking of ver... OMIM:619636
Micro Syndrome
Retinal coloboma, Pachygyria, Joint stiffness, Intrauterine growth retardation, Abnormality of re... ORPHA:2510
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Renpenning Syndrome
Severe short stature, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Joint... ORPHA:3242
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... ORPHA:2021
Ring Chromosome 10 Syndrome
Sandal gap, Intrauterine growth retardation, Short neck, Microphthalmia, Pectus excavatum, Tapere... ORPHA:1438
Abruzzo-Erickson Syndrome
Short stature, Radioulnar synostosis, Coloboma OMIM:302905
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Microphthalmia, Sparse hair, Onychogryposis, Alope... OMIM:308300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Multiple ... ORPHA:93299
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-t... OMIM:253010
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Coloboma, Postax... OMIM:615665
Congenital Rubella Syndrome
Intrauterine growth retardation, Abnormal metaphysis morphology, Splenomegaly, Aplasia/Hypoplasia... ORPHA:290
Mucopolysaccharidosis, Type Iiib
Coarse hair, Joint stiffness, Splenomegaly, Hirsutism, Ovoid thoracolumbar vertebrae, Synophrys, ... OMIM:252920
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Ventriculomegaly, Thoracic hypoplasia, Flared metaphysis, Decreased fi... OMIM:616897
Cleidocranial Dysplasia
Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ... ORPHA:1452
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull o... ORPHA:666
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo... ORPHA:1106
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
3C Syndrome
Iris coloboma, Ventriculomegaly, Finger syndactyly, Chorioretinal coloboma, Hypoplastic fingernai... ORPHA:7
Mosaic Trisomy 1
Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Small nail, Agenesis of corpus callo... ORPHA:1692
15Q24 Microdeletion Syndrome
Small hand, High anterior hairline, Clinodactyly, Myelomeningocele, Postnatal growth retardation,... ORPHA:94065
Adams-Oliver Syndrome 2
Alopecia, Small nail, Lateral ventricle dilatation, Polymicrogyria, Absent distal phalanges, Low ... OMIM:614219
Joubert Syndrome 37
Lumbar hyperlordosis, Joint hypermobility, Postaxial polydactyly, Microphthalmia, Short stature, ... OMIM:619185
Warburg Micro Syndrome 3
Ventriculomegaly, Hypertrichosis, Polymicrogyria, Postnatal growth retardation, Ankle clonus, Kyp... OMIM:614222
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Arachnodactyly, Hemiver... ORPHA:2759
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Short neck, Microphthalmia, Short stature, Scoliosis, Kyphosis ORPHA:3191
Moebius Syndrome
Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Aplasia/Hypopla... OMIM:157900
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Tracheomalacia, Chorioretinal coloboma, Hypoplastic toenails, Agenesis ... ORPHA:268249
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Abnormal for... ORPHA:3258
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Mosaic Trisomy 9
Ventriculomegaly, Limitation of joint mobility, Elbow dislocation, Finger clinodactyly, Camptodac... ORPHA:99776
Mosaic Trisomy 8
Narrow chest, Hypopigmentation of the skin, Limitation of joint mobility, Arthrogryposis multiple... ORPHA:96061
Abruzzo-Erickson Syndrome
Ulnar deviation of finger, Toe syndactyly, Short toe, Chorioretinal coloboma, Radioulnar synostos... ORPHA:921
Hallermann-Streiff Syndrome
Thin ribs, Chorioretinal coloboma, Sparse eyelashes, Microphthalmia, Sparse hair, Iris coloboma, ... OMIM:234100
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Low anterior hairline, Lumbar scoliosis, Cervical C2/C3 v... OMIM:617796
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Craniofacial hyperostosis, Limitation of joint mobility, Delayed skeletal matur... ORPHA:3068
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad clavicles, Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium,... ORPHA:371428
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Ventriculomegaly, Sandal gap, Small nail, Supernumerary nipple, Vertebral segment... OMIM:612530
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Retinal coloboma, Missing rib... OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Microphthalmia OMIM:614830
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Sandal gap, Nail dystrophy, Agenesis of corpus callosum, Microphthalmia, S... OMIM:300887
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Highly arched eyebrow, Broad thumb, Umbilical hernia, Long eyelashes, Clinodactyl... ORPHA:329224
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Hurler Syndrome
Abnormal vertebral morphology, Abnormal clavicle morphology, Limitation of joint mobility, Abnorm... ORPHA:93473
Distal Duplication 18Q
Progressive intervertebral space narrowing, Deviation of finger, Camptodactyly of finger, Clinoda... ORPHA:1716
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Fetal Alcohol Syndrome
Joint stiffness, Intrauterine growth retardation, Vertebral segmentation defect, Generalized hirs... ORPHA:1915
Distal Deletion 13Q
Abnormal form of the vertebral bodies, Encephalocele, Anencephaly, Aplasia/Hypoplasia of the thum... ORPHA:1590
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, ... OMIM:618914
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Thakker-Donnai Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Cervical C2/C3 vertebral fusion, Sh... ORPHA:1780
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Highly arched eyebrow, Retinal coloboma, Polymicrogyria, Encephalo... ORPHA:220493
Shwachman-Diamond Syndrome 1
Narrow chest, Proximal femoral epiphysiolysis, Delayed skeletal maturation, Persistence of hemogl... OMIM:260400
Frontorhiny
Cranium bifidum occultum, Iris coloboma, Finger clinodactyly, Camptodactyly of finger, Lumbar hyp... ORPHA:391474
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Anophthalmia, Agenesis of ... ORPHA:139471
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Coloboma, Iris transillumination defect, Osteopetrosis, Generaliz... OMIM:617306
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Patent ... ORPHA:2092
Microphthalmia/Coloboma 3
Iris coloboma, Microphthalmia OMIM:610092
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Horizontal eyebrow, Retinal coloboma, Overlapping toe, Short neck, Microphthalmia, Short stature,... OMIM:618571
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Short nec... OMIM:271640
Intellectual Developmental Disorder, Autosomal Recessive 67
Short stature, Coloboma OMIM:618295
Incontinentia Pigmenti
Finger syndactyly, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Ab... ORPHA:464
Poland Syndrome
Acute leukemia, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, ... ORPHA:2911
Nanophthalmos
Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Walker-Warburg Syndrome
Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Metatarsus valgus, Anophthalmia, Ag... ORPHA:899
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Short distal phalanx of finger, Alopecia, Ventriculomegaly, Finger sy... ORPHA:1647
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Three M Syndrome 2
Severe short stature, Pectus carinatum, Thin ribs, Short 5th finger, Clinodactyly, Delayed skelet... OMIM:612921
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Vertebral hyperostosis, Genu... ORPHA:89936
Craniometadiaphyseal Dysplasia
Osteopenia, Abnormally large globe, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of... OMIM:269300
Fanconi Anemia, Complementation Group C
Anterior wedging of T12, Absent thumb, Short thumb, Absent radius, Pancytopenia, Intrauterine gro... OMIM:227645
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Growth delay, Microphthalmia ORPHA:2528
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Neonatal death, Radial head subluxation, Microphthalm... OMIM:146510
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Vertebral segmentation defect, Spina bifida, Iris coloboma ORPHA:1104
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the... ORPHA:1834
Basel-Vanagaite-Smirin-Yosef Syndrome
Pectus carinatum, Ventriculomegaly, Agenesis of corpus callosum, 2-3 toe syndactyly, Microphthalm... OMIM:616449
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Supernumerary nipple, Absent toena... OMIM:305600
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Hydrocephalus,... OMIM:253800
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Delayed skeletal maturation, Intrauterine growth retard... OMIM:244460
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Agenesis of... OMIM:151050
Campomelia, Cumming Type
Clubbing of toes, Abnormal thorax morphology, Death in infancy, Bowing of the long bones, Aplasia... ORPHA:1318
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Hypopigmentation of the skin, Hypophosphatemic rickets, Kyphoscoliosis, Col... OMIM:163200
Basel-Vanagaite-Smirin-Yosef Syndrome
Pectus carinatum, Deviation of the 2nd finger, Sparse eyebrow, Dilated third ventricle, Lateral v... ORPHA:464738
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia... OMIM:251270
Jacobsen Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Clinodactyly of the 5th finger, Missing ... OMIM:147791
3Q29 Microdeletion Syndrome
Pectus carinatum, Joint hypermobility, Six lumbar vertebrae, Abnormality of skin pigmentation, Mi... ORPHA:65286
Apert Syndrome
Ventriculomegaly, Toe syndactyly, Broad thumb, Finger syndactyly, Cervical C5/C6 vertebrae fusion... ORPHA:87
Premature Aging Syndrome, Penttinen Type
Thin ribs, Short distal phalanx of finger, Sparse hair, Slender long bone, Delayed skeletal matur... OMIM:601812
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Kyphosis, Finger... ORPHA:958
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Di... OMIM:253200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Vertebral segmentation defect, Missing ribs, Aplasia/Hypoplasia of the thumb, A... ORPHA:3186
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Knee flexion contracture, Postaxial polydactyly, 2-3 ... ORPHA:435638
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Large cafe-au-lait macules with irregular margins, Bowin... ORPHA:249
Hypophosphatasia
Narrow chest, Abnormal metaphysis morphology, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:436
Lissencephaly 8
Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Microphthalmia,... OMIM:617255
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Iris coloboma, Optic disc coloboma, Agenesis of corpus callosum, Short neck, Short stature, Pectu... ORPHA:52055
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Polymicrogyria, Overlapping toe, Overlapping fingers, Joint hypermobili... OMIM:618494
Chops Syndrome
Coarse hair, Tracheomalacia, Long eyelashes, Thick eyebrow, Splenomegaly, Cervical C2/C3 vertebra... OMIM:616368
Congenital Disorder Of Glycosylation, Type Iq
Polymicrogyria, Microcytic anemia, Hypertrichosis, Coloboma, Abnormality of skin pigmentation, Mi... OMIM:612379
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Encephalocele, Microphthalmia, Flat acetabular roof, Patent duct... OMIM:616300
Schwartz-Jampel Syndrome
Elbow dislocation, Genu valgum, Hip contracture, Bowing of the long bones, Generalized hirsutism,... ORPHA:800
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Alopecia, Fine hair, Intrauterine growth retardation, Encephalocele, Ag... ORPHA:228390
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Encephalocele, Split hand, Mic... ORPHA:2117
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... OMIM:250220
Holzgreve Syndrome
Joint stiffness, Intrauterine growth retardation, Abnormal morphology of ulna, Hand polydactyly, ... ORPHA:2167
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Postnatal gro... ORPHA:93324
Cataract 9, Multiple Types
Iris coloboma, Microphthalmia OMIM:604219
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis OMIM:611590
Spondylometaphyseal Dysplasia, Algerian Type
Severe short stature, Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the ha... OMIM:184253
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule pigmentation of the retina, Hypochromia, P... OMIM:616959
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Crowded carpal bones, Short neck, Dislocated radial head, Iris colob... OMIM:102500
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Broad thumb, Finger clinodactyly, Elbow contracture, Flared metaphysi... OMIM:617137
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Broad hallux, Lateral ventricle dilatation, Periventricular ... OMIM:614105
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... ORPHA:300298
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Short neck, Aplas... OMIM:609945
Monosomy 9Q22.3
Ventriculomegaly, Abnormality of the vertebral column, Umbilical hernia, Metopic synostosis, Join... ORPHA:77301
Triploidy
Narrow chest, Finger syndactyly, Intrauterine growth retardation, Decreased skull ossification, S... ORPHA:3376
Momo Syndrome
Chorioretinal coloboma, Bilateral microphthalmos, Femoral bowing, Short sternum, Short neck, Abno... ORPHA:2563
Trichothiodystrophy
Neutropenia, Brittle hair, Split nail, Clubbing, Osteopenia, Joint dislocation, Delayed skeletal ... ORPHA:33364
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Supernumerary nipple, Postnatal... OMIM:263750
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Intrauterine growth retardation, Leukopenia, 2-3 finger syndactyly, Hy... OMIM:603467
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Microphthalmia, Concave nail, Nail dystrophy, Sparse eyelashes,... OMIM:234050
Stuve-Wiedemann Syndrome 1
Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplasti... OMIM:601559
Trisomy 1Q
Aplasia/Hypoplasia of the nails, Ventriculomegaly, Toe syndactyly, Short thorax, Camptodactyly of... ORPHA:261344
Joubert Syndrome 23
Dysplastic corpus callosum, Coloboma, Polydactyly OMIM:616490
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Splenomegaly, Short neck, Disprop... ORPHA:583
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Coloboma, Scoliosis, Short femur OMIM:601357
Robinow Syndrome
Short distal phalanx of finger, High anterior hairline, Small nail, Umbilical hernia, Kyphoscolio... ORPHA:97360
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Fanconi Anemia, Complementation Group J
Short thumb, Postnatal growth retardation, Intrauterine growth retardation, Multiple cafe-au-lait... OMIM:609054
Joubert Syndrome
Highly arched eyebrow, Abnormal form of the vertebral bodies, Polymicrogyria, Encephalocele, Abno... ORPHA:475
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s... OMIM:613091
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodie... ORPHA:2769
Hajdu-Cheney Syndrome
Decreased skull ossification, Bowing of the long bones, Generalized hirsutism, Short neck, Patell... ORPHA:955
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Delayed skeletal maturatio... ORPHA:52
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, High anterior hairline, Prominent fingertip pads, Supernumerary nipple, Thick eye... OMIM:620098
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Preaxial polydactyly, Microphthalmia, Horizontal ribs, Long thorax, Sh... OMIM:617925
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Lateral Meningocele Syndrome
Iris coloboma, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia... ORPHA:2789
Nestor-Guillermo Progeria Syndrome
Thin ribs, Limited elbow movement, Sparse eyelashes, Alopecia, Sparse eyebrow, Spotty hyperpigmen... OMIM:614008
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Short neck, Microphthalmia, Craniosyn... ORPHA:251038
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Broad thumb, Camptodactyly of finger, Supernumerary nipple, Abnormal thorax morphology, Microphth... ORPHA:1236
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Hand polydacty... ORPHA:220497
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1473
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Intrauterine growth retardation, An... ORPHA:3412
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bo... ORPHA:3103
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... ORPHA:2970
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Horizontal eyebrow, Clinodactyly, Bilateral microphthalmos, Umb... ORPHA:369891
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Broad distal phalanx of finger, Postaxial foot polydactyly, Low anterior h... ORPHA:404440
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Camptodactyly of finger, Microphthalmia, Patent ductus arteriosus, ... ORPHA:2547
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... OMIM:300106
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Osteopenia, Lumbar hemivertebrae, Thin metatarsal cortices, Thin metacarpal cortices, ... ORPHA:2463
Teebi-Shaltout Syndrome
Sparse hair, Pectus carinatum, Highly arched eyebrow, Caudal appendage, Microphthalmia, Low anter... OMIM:272950
Coach Syndrome 2
Coloboma, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum OMIM:619111
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Osteopenia, Small hand, Broad thumb, Slender finger, Broad hallux, Fine hair, Postna... ORPHA:251028
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Hydrocephalus, Microphthalmia OMIM:613155
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Rhizomelia, Delayed cranial suture closure, Crumpled long bones, Death ... OMIM:610682
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Neonatal death OMIM:615524
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventriculomegaly, Death in infancy, Neonatal death OMIM:613730
Fanconi Anemia, Complementation Group S
Clinodactyly, Long eyelashes, Low anterior hairline, Microphthalmia, Anemia, Sparse hair, Short s... OMIM:617883
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Kyphomelic Dysplasia
Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Thoracic hypoplasia,... OMIM:211350
Chromosome 13Q33-Q34 Deletion Syndrome
Narrow chest, Short t