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Gene: Bmper MGI:1920480

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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:
BMP-binding endothelial regulator
Synonyms:
CV-2,  Cv2,  3110056H04Rik,  crossveinless-2,  Crim3

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 Bmper 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 Bmper by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Narrow pelvis bon... ORPHA:66637
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep... OMIM:608022

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Mesomelic/rhizom... ORPHA:2347
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... OMIM:156530
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... OMIM:135100
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... OMIM:607326
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... OMIM:601344
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hy... ORPHA:79345
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab... ORPHA:2021
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Opsismodysplasia
Abnormally ossified vertebrae, Tapered finger, Pectus excavatum, Squared iliac bones, Hypoplastic... ORPHA:2746
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... OMIM:215140
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi... OMIM:600561
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, Hypoplas... ORPHA:958
Dysosteosclerosis
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... OMIM:224300
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... OMIM:108720
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu varum, Fibula... OMIM:602557
Cleidocranial Dysplasia
Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,... ORPHA:1452
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Beaded ribs, ... OMIM:200600
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... OMIM:256050
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat... OMIM:300717
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Lumbar hyperlordosis, Rhizomelia, Mi... OMIM:602471
Diastrophic Dysplasia
Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Micrognathia, Abnormal for... ORPHA:628
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... ORPHA:93333
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa v... OMIM:601370
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast... OMIM:601187
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Ureteral ste... OMIM:309350
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Hypospadias, Postaxial polydactyly, M... OMIM:614091
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Aplasia of the bladder, Narrow chest, Hypoplasia of the ulna, Split ... OMIM:200980
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Aplasia/Hypoplasia of the earlobes, Hemiv... ORPHA:2916
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypne... ORPHA:397715
Mucolipidosis Ii Alpha/Beta
Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis, Hypoplasia ... OMIM:252500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... OMIM:308050
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Genu valgum, Decreased anteri... ORPHA:3101
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Protruding ear, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, S... ORPHA:93315
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, ... OMIM:269860
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... OMIM:609324
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Micro... OMIM:611890
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli... ORPHA:79107
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Vesicoureteral reflux, Micropenis, Abnormality of the wrist, Abnorm... ORPHA:95699
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... ORPHA:750
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... OMIM:613628
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G... ORPHA:85198
Dysosteosclerosis
Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, Irregular vertebral endplates... ORPHA:1782
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Platys... ORPHA:79255
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo... OMIM:600920
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Hypoplasi... ORPHA:1512
Osteoglophonic Dysplasia
Short neck, Short metatarsal, Eruption failure, Short palm, Short phalanx of finger, Pseudoarthro... OMIM:166250
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Dumbbell-shaped long bo... ORPHA:3144
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectus carinatum, Irregular ve... OMIM:609223
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m... ORPHA:99642
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Arachnodactyly, Missing ribs, Dyspnea, Hemiverteb... ORPHA:2759
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Sho... ORPHA:96334
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re... OMIM:276950
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation ORPHA:2380
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, ... OMIM:230500
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis... OMIM:184260
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr... OMIM:614399
Caudal Regression Syndrome
Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Hypoplastic verte... ORPHA:3027
Dystonia-Deafness Syndrome 1
Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion OMIM:607371
Holoprosencephaly-Craniosynostosis Syndrome
Coxa valga, Hypoplastic vertebral bodies, Holoprosencephaly, Clinodactyly of the 5th finger, Shor... ORPHA:2163
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Hydrocephalus, Neonatal epiphyseal stippling, Short metatarsal, ... OMIM:101800
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Short neck, Micrognathia, Dyspnea, Respiratory fa... ORPHA:1832
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... ORPHA:1354
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Pyle Disease
Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary teeth, Metaphyseal widen... OMIM:265900
Gm1-Gangliosidosis, Type Ii
Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb... OMIM:230600
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Lateral c... ORPHA:1801
Oligomeganephronia
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Glomer... ORPHA:2260
Hyperekplexia 4
Kyphoscoliosis, Respiratory failure, Talipes equinovarus, Camptodactyly, Umbilical hernia, Adduct... OMIM:618011
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Abnormality of the malleus, Triphalangeal th... ORPHA:949
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... ORPHA:163966
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Coxa valga, Short neck, Wide anterior fontanel, Micrognathia, Abnormality... ORPHA:163649
Ollier Disease
Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Platyspondyly, Abnormal met... ORPHA:296
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Atelosteogenesis Type Iii
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... ORPHA:56305
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia OMIM:602196
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... OMIM:602271
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... OMIM:617974
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Congenital hip dislocation, Abnormal pinna morphology, Femur fractu... OMIM:618291
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, H... ORPHA:56304
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, Internal tibial t... OMIM:616583
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Pneumonia, Raynaud phenomenon, Abnormal re... ORPHA:247691
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Spinal rigidity, Short neck, Kyphosis, Micrognathia, Hip dislocation, Respiratory failu... ORPHA:75840
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Pilonidal sinus, Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thor... OMIM:252940
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Sensorineural hearing impairment, Abnormal rib morphology, Abnormal for... ORPHA:2790
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Hao-Fountain Syndrome
Hallux valgus, Large fontanelles, Clinodactyly of the 5th finger, Micropenis, Delayed cranial sut... OMIM:616863
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory failure, Respiratory insufficiency, Hearing impairment OMIM:616081
Multiple Sulfatase Deficiency
Broad hallux, Hydrocephalus, Hypoplastic vertebral bodies, Broad thumb, Hearing impairment OMIM:272200
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypopla... OMIM:617895
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... OMIM:177170
Femoral-Facial Syndrome
Short femur, Micrognathia, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Long penis, Abno... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Central apnea, Toe syndactyly, Camptodactyly of finger, Short ... ORPHA:1617
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Advanced ossification of carpal bones, Short long bone, Small epiphyses, Lumbar scoli... OMIM:620269
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Narrow pelvis bon... ORPHA:66637
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Short neck, Micrognathia, Kyphosi... OMIM:618393
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Wid... OMIM:618853
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing... OMIM:151210
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... OMIM:608940
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Pterygium, Absent thumb, Absent radius, Short... OMIM:263650
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fo... OMIM:616482
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Horseshoe kidney, Narrow chest, Calcification... ORPHA:2867
Melnick-Needles Syndrome
Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Anisospondyly, Micrognathia, Sho... ORPHA:2484
Fryns Microphthalmia Syndrome
Anophthalmia, Abnormality of the ear, Neural tube defect, Abnormality of the vertebral column, Mi... OMIM:600776
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, ... OMIM:613320
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Restrictive ventilatory defect, Verteb... OMIM:608681
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Hip dislocation, Respiratory insufficiency, Respiratory failure, ... ORPHA:370968
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Respiratory insufficiency due to muscle weakness... ORPHA:2590
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... ORPHA:2319
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Tracheoesophageal fistula, Respiratory insufficiency, Abnormal form of t... ORPHA:93941
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... OMIM:618961
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... ORPHA:2619
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Broad hallux, Hypospadias, Short neck, Micrognathia, Wide anterior fonta... OMIM:614541
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity OMIM:604801
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Co... ORPHA:166272
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t... OMIM:271665
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Optic nerve hypoplasia, Missing ribs, Sensor... OMIM:206900
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Talipes equinovarus, Low-set ears, Microphthalmia OMIM:616570
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Conductive hearing impairment, Spina bifid... OMIM:150250
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, W... ORPHA:1860
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Phaver Syndrome
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Short thumb, Myelomening... ORPHA:2876
Hypophosphatasia, Infantile
Death in infancy, Elevated urine pyrophosphate, Micromelia, Bowing of the legs, Craniosynostosis,... OMIM:241500
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarpal morphology, Pectus e... ORPHA:2511
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology ORPHA:93283
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... OMIM:601356
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... ORPHA:85172
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Limb undergrowth, Narrow chest, Conductive hear... ORPHA:1861
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Microphthalmia, Abnormal vertebral ... ORPHA:261272
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Low-set ears, Neonatal death OMIM:610127
Pseudodiastrophic Dysplasia
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scoliosis ORPHA:85174
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper... OMIM:615222
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs... OMIM:617866
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Polydactyly, Talipes equinovaru... OMIM:613885
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle... OMIM:610967
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... OMIM:276820
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Tetrasomy 9P
Joint dislocation, Short neck, Micrognathia, Clinodactyly of the 5th finger, Micropenis, Multiple... ORPHA:3310
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Laryngeal stenosis, Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delaye... ORPHA:93360
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Hydrocephalus, Hemivertebrae, Tracheoesophageal fistula, Holopros... ORPHA:77298
Radio-Renal Syndrome
Respiratory distress, Micromelia, Short neck, Micrognathia, Dyspnea, Hypoplasia of the radius, Ab... ORPHA:3015
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Preaxial hand polydactyly, Overfolded helix, Abnormal antihelix morp... ORPHA:79113
Thanatophoric Dysplasia
Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Short thor... ORPHA:2655
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... OMIM:259440
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Rib segmentation abnormalities, Finger syndactyly, Abnormal in... ORPHA:2311
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Thoracic scoliosis, Micrognathia, Lumbar scoliosis, Talipes equinovarus, Microphthalmia OMIM:616171
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Abnormal pinna morphology, Kyphosc... ORPHA:35173
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Abnormal ossificati... ORPHA:1190
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... OMIM:300232
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Beaded ribs, Large fontanelles, Tibial bowi... OMIM:166210
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Bresek Syndrome
Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Hemivertebrae, Protruding ear,... ORPHA:85284
Pierpont Syndrome
Posteriorly rotated ears, Uplifted earlobe, Short neck, Short toe, Scoliosis, Short finger, Promi... ORPHA:487825
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Congenital Myopathy 14
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Respi... OMIM:618414
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... OMIM:226980
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Pec... ORPHA:2522
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Micrognathia, Missing ribs, Renal hypoplasia/aplasia, Hydroc... ORPHA:1834
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ... ORPHA:1488
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cofs Syndrome
Death in infancy, Camptodactyly of finger, Short neck, Micrognathia, Sensorineural hearing impair... ORPHA:1466
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Tibial bowing, Thin ribs, Sl... OMIM:259420
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... OMIM:255800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Hypospadias, Wormian bones, Decreased fibu... OMIM:616897
Lateral Meningocele Syndrome
Posteriorly rotated ears, Hyperlordosis, Short neck, Kyphosis, Abnormality of the middle ear ossi... ORPHA:2789
Sandestig-Stefanova Syndrome
Rocker bottom foot, Short neck, Respiratory failure, Low-set ears, Camptodactyly, Angulated antih... OMIM:618804
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ne... OMIM:183900
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Large fontanelles, Abnormal rib morpho... ORPHA:2097
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Platyspondyly OMIM:184840
Hereditary Motor And Sensory Neuropathy, Type Iic
Down-sloping shoulders, Sensorineural hearing impairment, Stridor, Respiratory failure, Hammertoe... OMIM:606071
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Ulnar-Mammary Syndrome
Deformed radius, Subglottic stenosis, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpa... OMIM:181450
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... ORPHA:1120
Thoracomelic Dysplasia
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Abnormal rib morphology, ... ORPHA:1513
Joubert Syndrome 15
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis OMIM:614464
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Respiratory insufficiency ORPHA:2432
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Coxa valga, Wide anterior fontanel, Micrognathia, Vertebral arch... ORPHA:85184
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s... OMIM:253010
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Craniometadiaphyseal Dysplasia
Natal tooth, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum... OMIM:269300
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Nephrolithiasis, Dermatan sulfate excretion in ur... OMIM:619698
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Split hand, Respiratory insufficiency, Lobar ho... ORPHA:2117
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Re... ORPHA:1914
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal... OMIM:619638
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi... ORPHA:98913
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia,... OMIM:607095
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Abnormal ri... ORPHA:1703
Pierpont Syndrome
Posteriorly rotated ears, Short neck, Short toe, Large fleshy ears, Short foot, Scoliosis, Short ... OMIM:602342
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Micrognathia, Fractures of ... ORPHA:319195
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Micrognathia, Wide anterior fontanel, Ulnar bowing, Poo... OMIM:619135
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h... OMIM:171480
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Hypoplasia of... OMIM:264180
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Bell-shaped tho... OMIM:619131
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Hearing impairment OMIM:619057
Microcephaly-Micromelia Syndrome
Micromelia, Missing ribs, Short neck, Absent thumb, Short tibia, Humeroradial synostosis, Absent ... OMIM:251230
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Micrognathia, Hydrocephalus, ... ORPHA:3301
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... OMIM:615297
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Hearing impairment OMIM:616277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S... OMIM:606612
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Hyperlordosis, Foot acroosteolysis, Abnormality of the a... ORPHA:970
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... OMIM:620076
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... OMIM:615633
Microphthalmia, Syndromic 13
Anteverted ears, Microphthalmia, Kyphoscoliosis OMIM:300915
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Wide cranial sutures, Crumpled long bones, Rhizomelia, Protrusio acetabul... OMIM:610682
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Femoral bowing... OMIM:614856
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pinna morphology, Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Abnorma... OMIM:302960
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... OMIM:211350
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Kyphosis, Respiratory insufficiency,... ORPHA:3191
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fin... OMIM:612350
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short lon... ORPHA:93346
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... OMIM:268310
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Microtia, third degree, Spina bifida, Micrognathia, Aqueduct... ORPHA:3412
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, Craniosynostosis, 1-3 toe syndactyly, Preaxial h... OMIM:175700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho... ORPHA:582
Monosomy 18P
Kyphoscoliosis, Short neck, Micrognathia, Pectus excavatum, Protruding ear, Abnormal antihelix mo... ORPHA:1598
Bruck Syndrome 2
Wormian bones, Elbow flexion contracture, Pectus carinatum, Femoral bowing, Knee flexion contract... OMIM:609220
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... ORPHA:2050
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intraut... OMIM:234250
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... ORPHA:352447
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Ab... ORPHA:250984
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... ORPHA:157965
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of the kidney, Micromelia, Kyphosis, Hydrocephalus, Short thorax, Plat... ORPHA:93274
Vacterl/Vater Association
Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicystic kidn... ORPHA:887
Femoral-Facial Syndrome
Short fourth metatarsal, Micrognathia, Hemivertebrae, Dysplastic sacrum, Absent vertebra, Rib fus... OMIM:134780
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ... ORPHA:3258
Achondroplasia
Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Trident hand, Genu varum, Death... OMIM:100800
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Split hand, Aplasia/Hypoplasia of the external ear, Respira... ORPHA:168486
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Abnormal pinna morphology, Short neck, Micrognat... OMIM:157900
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... ORPHA:2911
Pyknoachondrogenesis
Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing morphology, Poo... ORPHA:3003
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:2180
Prune Belly Syndrome
Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficiency, Hydroureter, Recur... ORPHA:2970
Ring Chromosome 10 Syndrome
Sandal gap, Short neck, Tapered finger, Micrognathia, Pectus excavatum, Abnormal antihelix morpho... ORPHA:1438
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Hypospadias, E... ORPHA:2211
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Micrognathia, Kyphosis, Scoliosis, Microphthalmia, Abnormality of the ce... ORPHA:48431
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Clinodactyly, Anterior basal encephalocele, Hypoplastic frontal sinus... OMIM:136760
Cole-Carpenter Syndrome 2
Microretrognathia, Wide cranial sutures, Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Pl... OMIM:616294
Neuropathy, Congenital Hypomyelinating, 3
Micrognathia, 2-3 toe syndactyly, Respiratory insufficiency, Hand clenching, Respiratory failure,... OMIM:618186
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Rocker bottom foot, Kyphoscoliosis, Camptodactyly of finger, Micrognath... OMIM:610758
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane... OMIM:610915
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Abnormal rib morphology, Hearing impairment ORPHA:195
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... OMIM:611717
Warburg Micro Syndrome 1
Overlapping toe, Kyphoscoliosis, Micrognathia, Low-set ears, Microphthalmia, Macrotia OMIM:600118
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies... ORPHA:2831
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... ORPHA:2549
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Kyphoscoliosis, Camptodactyly of finger, Micrognathia, Death in childhood, Mi... OMIM:610756
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Abs... ORPHA:63259
Spondylometaphyseal Dysplasia, Sedaghatian Type
Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow grea... OMIM:250220
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Abnormal intervertebral disk morphology, Short neck, Abnormal ant... ORPHA:85194
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Rhizomeli... OMIM:616229
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Rhizomelia, Mi... OMIM:613848
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia,... OMIM:224410
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Trisomy 13
Anophthalmia, Kyphosis, Sensorineural hearing impairment, Postaxial hand polydactyly, Abnormal ri... ORPHA:3378
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Barrel-shaped chest, Abnormally ossi... ORPHA:94068
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:2578
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Missing ribs,... OMIM:184705
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Arthritis, Joint swel... ORPHA:1416
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Short neck, Abnormal thorax morphology, Short foot, Hip dysplasia, Tracheal stenosis, Stenosis of... OMIM:601427
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis OMIM:612913
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,... OMIM:239850
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, Finger joint hypermobili... OMIM:212720
Lateral Meningocele Syndrome
Vertebral fusion, Posteriorly rotated ears, Short neck, Abnormality of the middle ear ossicles, K... OMIM:130720
Intermediate Nemaline Myopathy
Abnormal thorax morphology, Respiratory failure, Low-set ears ORPHA:171433
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity OMIM:620326
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Micrognathia, Pr... OMIM:215150
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, 2-3 toe syndactyly, ... OMIM:139210
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... ORPHA:1486
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, A... OMIM:200610
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... ORPHA:64755
Acromesomelic Dysplasia 2A
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... OMIM:200700
Alg1-Cdg
Kyphosis, Respiratory failure, Scoliosis ORPHA:79327
Microphthalmia With Limb Anomalies
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot... OMIM:206920
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Adducted thumb OMIM:619334
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... OMIM:113500
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Asthma, Coxa vara, ... OMIM:616716
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Brachydactyly, Short distal phalanx of finger ORPHA:2787
Pycnodysostosis
Persistent open anterior fontanelle, Aplastic clavicle, Persistence of primary teeth, Delayed eru... OMIM:265800
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Multiple small vertebral fractures, Slender long bone, Wormian bones, I... OMIM:619795
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Bowing of the legs, Micrognat... OMIM:613849
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Abnormality of the ear, Hypoplastic vertebral bodies, Long toe, 2-3 toe sy... ORPHA:3455
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal rib morphology, Clinodactyly of th... ORPHA:2475
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Pectus carinatum, Narrow greater sciatic notch, Anterior beaking of l... OMIM:253220
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h... OMIM:618958
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydac... ORPHA:2189
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Temtamy Syndrome
Brachydactyly, Micrognathia, Short toe, Low-set ears, Clinodactyly of the 5th finger, Microphthal... ORPHA:1777
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Aqueductal ... ORPHA:3035
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin... OMIM:109400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Kyphoscoliosis, Coxa valga, Pectus... OMIM:617425
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hydrocephalus, Tracheoe... OMIM:314390
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac b... OMIM:616300
Van Maldergem Syndrome 1
Wide cranial sutures, Short fourth metatarsal, Sacral dimple, Hypospadias, Micrognathia, Wide ant... OMIM:601390
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Delayed eruption of teeth ORPHA:71267
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, ... ORPHA:391474
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short neck, Hypopl... ORPHA:955
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micromelia, Abnormality of the urethra, Micrognathia, Abnorm... ORPHA:2145
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Hearing impairment, Microphthalmia, Clinodactyly, Brachydactyly OMIM:610023
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... OMIM:118100
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Aqueductal stenosis, Hand oligoda... ORPHA:1788
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Horseshoe kidney, C... OMIM:617088
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Wide anterior fontanel OMIM:618240
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Micrognathia, Sensorineural hearing impairment, R... OMIM:214150
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Micrognathia, Pectus excavatum, Camptodactyly, Microphthalmia, Macrotia OMIM:619694
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion co... OMIM:259600
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Abnormal pinna morphology, Trach... OMIM:217980
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Wormian bones,... ORPHA:2771
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Pycnodysostosis
Abnormal clavicle morphology, Persistent open anterior fontanelle, Micrognathia, Narrow chest, Hy... ORPHA:763
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of... OMIM:105650
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Hyperlordosis, Micrognathia, Large fontanelles, High iliac wing, Asymm... ORPHA:2780
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia, Micrognathia OMIM:615524
Branchiootic Syndrome
Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, ... ORPHA:52429
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Renal hypoplasia/aplasia, Midsh... ORPHA:2863
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, M... ORPHA:1528
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Bilateral microphthalmos, Hemivertebrae, Unilateral microphthalmos, Simple ear OMIM:619318
Van Maldergem Syndrome 2
Wide cranial sutures, Short fourth metatarsal, Sacral dimple, Hypospadias, Ulnar deviation of the... OMIM:615546
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost... OMIM:616723
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Abnormal epiphysis morpho... ORPHA:90653
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Absent distal ... OMIM:619339
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb ORPHA:3434
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Ulbright-Hodes Syndrome
Respiratory distress, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Short ... ORPHA:3404
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Abnormal thorax morphology, Micr... OMIM:164180
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregula... OMIM:612813
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... ORPHA:508533
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Short neck, Hemivertebrae, Abnormal rib morphology, Abnormal form of the ver... ORPHA:2234
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Hydrocephalus, Clubbing, Bronchiectasi... ORPHA:244
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Postaxial polydactyly, Short neck, Micrognathia, Wide anterior fontane... OMIM:617925
Mycophenolate Mofetil Embryopathy
Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Bifid thoracic vertebrae, Microtia, Anoti... ORPHA:268249
Achondrogenesis Type 1B
Micromelia, Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Talipes ... ORPHA:93298
Potocki-Shaffer Syndrome
Wormian bones, 2-5 finger cutaneous syndactyly, Micropenis, Brachydactyly OMIM:601224
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... ORPHA:3472
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... OMIM:142900
3P25.3 Microdeletion Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Congen... ORPHA:435638
Marden-Walker Syndrome
Arachnodactyly, Short neck, Micrognathia, Kyphosis, Wide anterior fontanel, Radioulnar synostosis... OMIM:248700
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dys... ORPHA:1318
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Scoliosis, Tapered finger OMIM:616505
Muscular Dystrophy, Duchenne Type
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven... OMIM:310200
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... OMIM:265120
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Hypospadias, Rhizome... OMIM:611209
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears, Chronic o... ORPHA:276422
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Neonatal death OMIM:245650
Geroderma Osteodysplastica
Beaking of vertebral bodies, Hip dislocation, Abnormal form of the vertebral bodies, Pectus carin... ORPHA:2078
Stevenson-Carey Syndrome
Posteriorly rotated ears, Central hypoventilation, Hip dysplasia, Low-set ears, Scoliosis, Microp... OMIM:611961
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal clavicle morphology, Camptodactyly... ORPHA:568
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosis, Irregular femoral epiphysi... OMIM:108300
Congenital Myopathy 10B, Mild Variant
Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis OMIM:620249
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus ca... ORPHA:3068
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Elbow dislocation, Metatarsus adductus,... ORPHA:2249
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Optic disc hypoplasia, Sandal g... OMIM:607323
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Micrognathia, Abnormality of the ureter, Short distal ph... OMIM:180860
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Abnormal pinna morphology, Hyperlordosis, Dyspnea, Wide anterior fontanel, Card... ORPHA:26791
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplasti... ORPHA:85199
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Tracheal atresia, Respiratory insufficiency OMIM:601612
Tracheobronchopathia Osteochondroplastica
Pneumonia, Productive cough, Wheezing, Recurrent pneumonia, Upper airway obstruction, Respiratory... ORPHA:3348
Occipital Horn Syndrome
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Broad clav... OMIM:304150
Brachyolmia Type 2
Platyspondyly OMIM:613678
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnorm... ORPHA:52
Trisomy 20P
Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Short neck, M... ORPHA:261318
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Thin ribs, Respiratory failure, Low-set ears, Adducted thumb ORPHA:171430
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep... OMIM:608022
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Large fontanelles, Abnormal form ... ORPHA:73230
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Nanophthalmos
Microphthalmia ORPHA:35612
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Large fontanelles, Hip disloc... OMIM:219150
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hemivertebrae, Anotia, Conductive hearing im... OMIM:164210
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Hydranencephaly, Tracheomalacia, Spina bifida, M... ORPHA:1393
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Pec... ORPHA:496641
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micro... OMIM:602361
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Posteriorly rotated ears, Micrognathia, Aqueductal stenosis, Long fin... OMIM:619512
Vater/Vacterl Association
Laryngeal stenosis, Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal stern... OMIM:192350
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Micrognathia, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wo... OMIM:617952
Morquio Syndrome C
Platyspondyly OMIM:252300
Schimke Immunoosseous Dysplasia
Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage... OMIM:242900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short neck, Micrognathia, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulde... OMIM:245600
Coffin-Siris Syndrome 6
Kyphoscoliosis, Micrognathia, Pectus excavatum, Wormian bones, Clinodactyly, Brachydactyly OMIM:617808
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing imp... ORPHA:959
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Subglottic stenosis, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular na... OMIM:271510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Respiratory insufficiency due to muscle weakness, Sensorineural hearing i... OMIM:615249
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Clinodactyly of the ... ORPHA:235
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Pectus excavatu... OMIM:615349
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Dea... ORPHA:800
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Chron... ORPHA:583
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c... OMIM:224690
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal ... ORPHA:666
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... ORPHA:251014
Lowry-Wood Syndrome
Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal ... ORPHA:1824
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... OMIM:607944
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Long fingers, Elbow flexion contrac... OMIM:256040
Jung Syndrome
Tracheal stenosis, Abnormal form of the vertebral bodies ORPHA:2321
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Apnea, Dyspnea, Sensorineural hearing impai... OMIM:615636
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Sho... OMIM:612921
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Hypophosphatasia
Bowing of the long bones, Abnormal rib morphology, Respiratory insufficiency, Narrow chest, Emphy... ORPHA:436
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Multiple joint dislocation, Pectus carinatum, Renal neoplasm,... ORPHA:536467
Cdags Syndrome
Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Large fontanelles, Short... OMIM:603116
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Large earlobe, Polydactyly, Microphthalmia OMIM:602501
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... OMIM:619879
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Pectus excavatum, 3-4 finger cutaneous syndactyly, Vertebral segmentation defect, Mic... OMIM:612530
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Omodysplasia 2
Short humerus, Hypospadias, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplasti... OMIM:164745
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Pectus excavatum, Large placenta, Respiratory failure, Coat hanger sig... ORPHA:254528
Frank-Ter Haar Syndrome
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Micrognathia,... OMIM:249420
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat... ORPHA:50945
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Rena... OMIM:210710
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Nephrotic range pro... ORPHA:1830
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Bowing of the long bones, Micromelia, Short neck, Hyperlordo... ORPHA:1798
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Hall-Riggs Syndrome
Delayed eruption of teeth, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergro... ORPHA:2107
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Craniosynostosis 6
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Scoliosis, Spina ... OMIM:616602
Leigh Syndrome
Sensorineural hearing impairment, Respiratory failure, Abnormal pattern of respiration, Respirato... OMIM:256000
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Renal cyst, Holoprosencephaly, Neonatal death, Micropenis, Distal ... OMIM:146510
Occipital Horn Syndrome
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Abnormali... ORPHA:198
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr... OMIM:203500
White-Sutton Syndrome
Posteriorly rotated ears, Optic nerve hypoplasia, Short neck, Micrognathia, Sensorineural hearing... OMIM:616364
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Abnormal thorax morphology, Hypoxemia, Respiratory failure ORPHA:70587
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Hypospadias, Delayed cranial suture closure, Kyphoscoliosis, Micrognathia, Hypop... OMIM:210730
Oculofaciocardiodental Syndrome
Short thumb, Sensorineural hearing impairment, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexio... ORPHA:2712
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Wormian bones, I... OMIM:616603
Ear-Patella-Short Stature Syndrome
Respiratory distress, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, ... ORPHA:2554
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Overlapping fingers, Posteriorly rotated ears, Overlapping toe, Hip dys... OMIM:618494
Hurler-Scheie Syndrome
Camptodactyly of finger, Micrognathia, Kyphosis, Contracture of the distal interphalangeal joint ... OMIM:607015
Phosphoribosylaminoimidazole Carboxylase Deficiency
Missing ribs, Short neck, Tracheoesophageal fistula, Lumbar hemivertebrae, Clinodactyly of the 5t... OMIM:619859
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Grant Syndrome
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Pneumonia, Dyspnea, Short foot, Respiratory failure, Limb undergrowth, Trac... OMIM:617809
Sponastrime Dysplasia
Subglottic stenosis, Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, ... ORPHA:93357
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnormal finger mo... ORPHA:2636
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Posteriorly rotated ears, Postaxial hand polydactyly, Hydrocepha... OMIM:264480
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Trisomy 8P
Sacral dimple, Short fourth metatarsal, Posteriorly rotated ears, Short fifth metatarsal, Overlap... ORPHA:264450
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Bea... ORPHA:89936
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Inspiratory stridor... OMIM:604320
Mohr Syndrome
Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:252100
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn... ORPHA:1506
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Brachydactyly, Congenital hip dislocation, Hyperlordosis, Tapered finger, Hypoplasia of the odont... OMIM:616007
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Proteinuria, Bowing of the legs, Hypoplastic il... ORPHA:1855
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing p... OMIM:166220
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Ves... ORPHA:96061
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Mixed hearing impairment, Thickened helices, Abnormality of the mid... ORPHA:581
Osteogenesis Imperfecta, Type I
Otosclerosis, Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermob... OMIM:166200
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Short neck, Aplasia of the ulna, Micrognathi... ORPHA:2879
Nanophthalmos 4
Microphthalmia OMIM:615972
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Micrognathia, Large fontanelles, Epiphyseal stippling, Abnormal pelvic... OMIM:222765
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused ce... OMIM:609053
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Abnormal rib morphology,... OMIM:601076
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus ORPHA:324416
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Hearing im... OMIM:614922
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dis... OMIM:182212
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Joubert Syndrome 37
Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, Low-set ears, Microphthalmia OMIM:619185
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Camptodactyly of finger, Low-set ears ORPHA:1194
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Broad hallux, Micrognathia, Epispadias, ... OMIM:615948
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Congenital hip dislocation, Pectus excavatum, Hydrocephalus, Large font... OMIM:612940
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the hand, Microti... ORPHA:2547
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Kyphoscoliosis, Coxa vara, Vertebral wedging, Scoliosis, Biconcave vertebral... OMIM:610968
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Tapered finger, Vesicoureteral reflux, Flat acetabular roof, Fused cervical ... OMIM:617159
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Congenital hip dislocation, Wide anterior fontanel, Intraute... ORPHA:357058
Baraitser-Winter Syndrome 2
Microphthalmia, Abnormal pinna morphology, Hearing impairment, Short neck OMIM:614583
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis ORPHA:1345
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Hydrocephalu... ORPHA:93473
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal ri... ORPHA:2167
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Pe... OMIM:618476
3Q29 Microdeletion Syndrome
Tapered finger, Pectus excavatum, Pectus carinatum, Pulmonary arterial hypertension, Low-set ears... ORPHA:65286
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Craniosynostosis, Hyperlordosi... ORPHA:794
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... OMIM:250250
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Aplasia/Hypoplasia of the middl... OMIM:151050
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Protruding ear, Low-set ears, S... OMIM:618571
Fanconi Anemia, Complementation Group R
Absent thumb, Hydrocephalus, Scoliosis, Microphthalmia, Radial dysplasia OMIM:617244
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... OMIM:231070
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Micrognathia, Metaphyseal widening, Abnormal finger morphology, Pectus carinat... ORPHA:536471
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Lo... ORPHA:404440
Adams-Oliver Syndrome 2
Micrognathia, Hydrocephalus, Protruding ear, Absent distal phalanges, Short middle phalanx of fin... OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Respiratory insufficiency, Death in childhood OMIM:613153
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... OMIM:154780
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Hypercapnia, Respirat... ORPHA:2020
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Abnormal pinna morphology, Ulnar d... OMIM:617137
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Wide cranial sutures, Short femur, Metaphyseal spurs, Unilateral ren... OMIM:618188
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, ... OMIM:265000
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Microphthalmia, Posteriorly rotated ears, Pulmonary arterial hypertension OMIM:300887
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... OMIM:620278
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Micrognathia, Thoracic kyphosis, Short palm, Clinodactyly of the ... ORPHA:508498
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Fraser Syndrome 2
Short neck, Short thorax, Cutaneous syndactyly, Respiratory failure, Atresia of the external audi... OMIM:617666
Arterial Tortuosity Syndrome
Respiratory distress, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the c... ORPHA:3342
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib morphology, Br... ORPHA:1163
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Posteriorly rotated ears, Apnea, Taper... OMIM:608836
Moderate Hemophilia A
Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Hematuria, Joint swelling, Joint ... ORPHA:169805
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Congenital hip dislocation, Delayed eruption of teeth OMIM:614450
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Mosaic Trisomy 1
Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Abnormal pinna morphology, Arachnodactyl... ORPHA:1692
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Stillbirth, Pectus excavatum, Pectus carinatum OMIM:259410
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... OMIM:615512
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia, Scoliosis ORPHA:98905
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Aplasia/Hypoplasia of the middle ear, Clinodactyly of the 5th finger, Atresia of the external aud... ORPHA:3236
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hearing impairment OMIM:120433
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Short neck, Metaphyseal widening, Irregular vertebral endplates, D-2-hydroxyglutaric aciduria, Me... ORPHA:99646
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal renal morphology, Abnormal ri... ORPHA:83
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Basel-Vanagaite-Smirin-Yosef Syndrome
Uplifted earlobe, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Pectus carinatum, Pulmonary ... OMIM:616449
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... ORPHA:289157
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Broad ribs,... OMIM:269150
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Short neck, Camptodactyly of finger, Spina bifida, Micrognathia, ... ORPHA:99776
Stuve-Wiedemann Syndrome 1
Apnea, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of fin... OMIM:601559
Focal Dermal Hypoplasia
Finger syndactyly, Coarse metaphyseal trabecularization, Toe syndactyly, Umbilical hernia, Campto... ORPHA:2092
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Micrognathia, Lens coloboma, Cupped ear, 2-3 toe syndactyly, Umbilical hernia, Joint ... OMIM:618914
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Broad ribs, Mi... ORPHA:798
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... OMIM:611134
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ... ORPHA:95717
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Short neck, Short thumb, Low-set ears, Scoliosis, C... OMIM:244300
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Kyphosis, Sensorineu... ORPHA:193
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru... OMIM:600002
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus OMIM:617255
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... OMIM:601216
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood OMIM:617186
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Hypoplastic iliac wing, Sensorineural hearing impairment, Aplasia/Hypoplasia of the e... ORPHA:2637
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Capitate-hamate fusion, Postaxial hand polyd... OMIM:225500
Keutel Syndrome
Recurrent sinusitis, Calcification of cartilage, Recurrent otitis media, Pulmonary arterial hyper... ORPHA:85202
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Posteriorly rotated ears, Overlapping toe, Micrognathia, Short thumb... OMIM:300895
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... ORPHA:2878
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, Narrow chest, Nephr... OMIM:266920
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Hearing impairment ORPHA:858
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Vesicoureteral reflux, Hydronephros... OMIM:618265
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Intrauter... ORPHA:86822
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Short neck, Absent thumb, Absent radius, Hydrocephalus, Micrognathia, Tracheo... OMIM:614083
Temtamy Syndrome
Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Low-set ears, Microphthalmia, ... OMIM:218340
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... ORPHA:1352
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Sclerotic cranial sutures, Abnormal hand morphology, Osteolysis involving bones of t... ORPHA:371428
Tracheal Agenesis
Tracheal atresia, Respiratory insufficiency ORPHA:3346
Hallermann-Streiff Syndrome
Spina bifida, Hyperlordosis, Micrognathia, Pectus excavatum, Metaphyseal widening, Recurrent pneu... OMIM:234100
Silver-Russell Syndrome
Sandal gap, Hypospadias, Micrognathia, Abnormal appendicular skeleton morphology, Abnormality of ... ORPHA:813
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral... OMIM:607597
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping fingers, Overlapping toe, Kyphosis, Recurrent pneumonia, Deviation... ORPHA:464738
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Phthisis bulbi, Tibial bowin... OMIM:259770
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Micrognathia, Stage 5 chronic kidney disease, Progressive clavicular ac... OMIM:608612
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachyda... ORPHA:2643
Hajdu-Cheney Syndrome
Hypospadias, Kyphoscoliosis, Short neck, Micrognathia, Absent frontal sinuses, Hydrocephalus, Tal... OMIM:102500
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Metaphyseal widening, Wormian bones, Abnormal femoral neck/head morphology, ... ORPHA:2788
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Gapo Syndrome
Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior fontanel, Eruption failur... OMIM:230740
Renpenning Syndrome
Abnormal thumb morphology, Pectus excavatum, Sensorineural hearing impairment, Abnormal rib morph... ORPHA:3242
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hip dysplasia, Scoliosis, Microphthalmia, Hearin... ORPHA:494344
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... ORPHA:2769
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of... OMIM:619269
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly, Atresia of the external auditory canal, Hearing impairment OMIM:619981
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Abnormal rib morphology, Abnormality of th... ORPHA:77301
Marshall-Smith Syndrome
Thoracic scoliosis, Apnea, Large sternal ossification centers, Distal widening of metacarpals, Co... OMIM:602535
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Overlapping toe, Hip dislocation, Respiratory failure, Talipes equinovaru... OMIM:617301
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Short neck, Pectus excavatum, Hypoplasia of ... OMIM:305400
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Death in infancy OMIM:613730
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Progressive hearing impairment OMIM:620166
Alkaptonuria
Joint dislocation, Cartilage destruction, Osteoarthritis, Nephrolithiasis, Arthritis, Aminoacidur... ORPHA:56
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Vertigo, Respiratory failure, Sensorineural hearing impairment ORPHA:3226
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Hypospadias, Epispadias, Abnormal rib morphology, Platy... ORPHA:2588
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure ORPHA:2707
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, Clinodactyly of the 5th finger, Broad ribs, Spina bifida occul... OMIM:300373
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Wide anterior fontanel, Craniosynostosis OMIM:601853
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Short foot, Toe clinodactyly ORPHA:166277
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Hyperextensibility of the knee, Micrognathia, Tibial bo... OMIM:601812
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Tapered finger, Abnormal thorax morphology, Large earlobe, Scoliosis, Hy... ORPHA:1236
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, C... ORPHA:1507
Trisomy 1Q
Microretrognathia, Anophthalmia, Arachnodactyly, Toe syndactyly, Camptodactyly of finger, Preaxia... ORPHA:261344
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Vertebral segmentation defect, Micrognathia ORPHA:1915
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Abnorma... ORPHA:93929
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Posteriorly rotated ears, Overlapping toe, Tapered finger, Micrognathia, Short thu... OMIM:619148
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Respiratory failure, Abn... ORPHA:158687
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hypertension, Respi... ORPHA:258
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Lumbar hyperlordosis, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia ORPHA:370959
Mend Syndrome
Sacral dimple, Overlapping fingers, Broad hallux, Overlapping toe, Abnormal auditory evoked poten... ORPHA:401973
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Short neck, Micrognathia, Long fingers, Pectus excavatum, Low-set ears,... OMIM:156610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Respiratory failure, Hydrocephalus OMIM:616538
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Spina bifida, Recurrent pneumonia, He... OMIM:304050
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Baraitser-Winter Syndrome 1
Short neck, Sensorineural hearing impairment, Duplication of phalanx of hallux, Low-set ears, Mic... OMIM:243310
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Overlapping toe, Pectus carinatum, Scoliosis, Overlapping fingers, Delayed cranial suture closure OMIM:619383
Refsum Disease
Short metacarpal, Sensorineural hearing impairment, Respiratory insufficiency, Hammertoe, Abnorma... ORPHA:773
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Sensorineural hearing impairment, Hydrocephalus, Short foot... ORPHA:250989
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Metatarsus adductus, Pectus excavatu... OMIM:272950
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Micrognathia, Hydrocephalus, Vertebral compression fracture, Scolios... OMIM:112240
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral compression fracture, Th... OMIM:616507
Alg9-Cdg
Microretrognathia, Hypoplasia of the bladder, Prominent metopic ridge, Ulnar deviation of the han... ORPHA:79328
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Short neck, Epispadias, Postaxial hand ... ORPHA:434179
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Protruding ear, Hip dysplasia, Supernumera... ORPHA:50
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
2-3 toe syndactyly, Protruding ear, Joint contracture of the 5th finger, Low-set ears, Scoliosis,... OMIM:620098
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Missing ribs, External ear malformation, Aplasia/H... ORPHA:1647
Menkes Disease
Metaphyseal spurs, Metaphyseal widening, Death in childhood, Wormian bones, Intrauterine growth r... OMIM:309400
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha... ORPHA:974
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Hypospadias, Metatarsus adductus, Premature osteoarthritis, Large fontanell... OMIM:611962
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Abnormal metaph... ORPHA:290
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Abnormal rib morphology, Micromelia ORPHA:2772
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Short neck, Bilateral microphthalmos, Low-set ears, Camptodactyly, Umbilical hernia, ... ORPHA:369891
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal... ORPHA:354
Restrictive Dermopathy 1
Natal tooth, Ureteral duplication, Hypospadias, Rocker bottom foot, Kyphoscoliosis, Micrognathia,... OMIM:275210
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Anterior rib cupping, Horizontal inferior border of scapula, Abnorma... OMIM:102700
Developmental And Epileptic Encephalopathy 1
Dyspnea, Microphthalmia OMIM:308350
Sirenomelia
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... ORPHA:3169
Deafness, X-Linked 7
Posteriorly rotated ears, Unilateral microphthalmos, Atresia of the external auditory canal, Sten... OMIM:301018
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Spinal rigidity, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Scol... OMIM:253800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... OMIM:220110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus OMIM:613155
Cerebrocostomandibular Syndrome
Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... OMIM:117650
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Thin ribs OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Spinal rigidity, Hydrocephalus, Buphthalmos, Scoliosis, Micropht... OMIM:613150
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Recurrent urinary tract infections, Thickened ribs, Craniosynostosis... ORPHA:309282
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Small hand, Abnormal rib morphology, Short foot, Micropenis, Spina bifida occulta, Th... ORPHA:488434
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Warburg Micro Syndrome 3
Kyphoscoliosis, Micrognathia, Clinodactyly of the 5th finger, Microphthalmia, Macrotia OMIM:614222
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, P... OMIM:612394
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Finger syndactyly, Hypospadias, Aplastic clavicle, Abnormal metacarpal... ORPHA:2658
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Micrognathia OMIM:607598
Nance-Horan Syndrome
Microphthalmia, Short metacarpal, Protruding ear ORPHA:627
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Sensorineural hearing impairment ORPHA:1473
Hurler Syndrome
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... OMIM:607014
Wrinkly Skin Syndrome
Delayed eruption of teeth, Microretrognathia, Scapular winging, Congenital hip dislocation, Delay... OMIM:278250
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... ORPHA:818
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure, Epiphyseal stippling OMIM:614862
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urin... ORPHA:2995
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... OMIM:610442
Mounier-Kühn Syndrome
Tracheal stenosis, Pneumonia ORPHA:3347
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Sensorineural hearing impairment, Respiratory failure, Death in childhood OMIM:619847
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Short neck, Low-set ears, Aniridia, Microphthalmia, Camptodactyly of ... ORPHA:251038
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segm... ORPHA:373
Aymé-Gripp Syndrome
Prominent metopic ridge, Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered finger, Abnor... ORPHA:1272
Craniofacioskeletal Syndrome
Barrel-shaped chest, Posteriorly rotated ears, Micrognathia, Hypoplastic frontal sinuses, Small h... OMIM:300712
Fanconi Anemia, Complementation Group F
Sacral dimple, Pneumonia, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndact... OMIM:603467
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... ORPHA:2519
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the se... ORPHA:138
Heart And Brain Malformation Syndrome
Attached earlobe, Posteriorly rotated ears, Camptodactyly of finger, Wide anterior fontanel, Low-... OMIM:616920
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Short clavicle... OMIM:619322
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Joubert Syndrome 14
Encephalocele, Posteriorly rotated ears, Postaxial polydactyly, Hydrocephalus, Meningocele, Low-s... OMIM:614424
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Micrognathia, Tracheoesophageal fistula, Respiratory insufficie... ORPHA:861
Costello Syndrome
Barrel-shaped chest, Hyperextensibility of the finger joints, Posteriorly rotated ears, Short nec... OMIM:218040
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Microphthalmia, Syndromic 8
Microphthalmia, Split foot OMIM:601349
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... OMIM:600145
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Micrognathia, Postaxial... ORPHA:261112
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Hydrocephalus, Flared metaphysis, Respiratory failure, Stillbirth, Hip subluxation OMIM:259720
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia OMIM:606744
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Hearing abnormality, Abnormal hand morphology, Absent... ORPHA:464
Micro Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Kyphosis, Scoliosis, Microphthalmia, Macrotia ORPHA:2510
Focal Dermal Hypoplasia
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Atelis Syndrome 2
Sacral dimple, Micrognathia, Kyphosis, Dyspnea, Protruding ear, Low-set ears, Microphthalmia, Cli... OMIM:620185
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Asymmetry of the thorax, Narrow chest, Wormian bones, Intrauterine growth retarda... OMIM:618644
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Short neck, Micrognathia, Sensorineural hearing impairment, Protrud... OMIM:614230
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... OMIM:225400
Parietal Foramina 1
Wormian bones, Encephalocele OMIM:168500
Trisomy 18
Low-set, posteriorly rotated ears, Microretrognathia, Camptodactyly of finger, Spina bifida, Post... ORPHA:3380
Craniosynostosis 2
Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, ... OMIM:604757
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ... ORPHA:95716
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Cupped ear, Low-set ears OMIM:167730
Holoprosencephaly
Encephalocele, Anophthalmia, Short neck, External ear malformation, Hydrocephalus, Abnormal form ... ORPHA:2162
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Fraser Syndrome
Low-set, posteriorly rotated ears, Death in infancy, Finger syndactyly, Anophthalmia, Toe syndact... ORPHA:2052
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Acute respiratory distress syndrome, Tapered finger, Micrognathia, Wheezing, Sm... OMIM:620005
Kapur-Toriello Syndrome
Posteriorly rotated ears, Short neck, Atresia of the external auditory canal, Low-set ears, Micro... ORPHA:2328
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 finger syndactyly, ... OMIM:257850
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Wide anterior fontanel, Hip dislocation, Pyelonephritis, Uret... ORPHA:90349
Jacobsen Syndrome
Missing ribs, Short neck, Micrognathia, Hydrocephalus, Pectus excavatum, Macular hypoplasia, Holo... OMIM:147791
Trisomy 10P
Thumb contracture, Wide cranial sutures, Abnormality of the kidney, Micrognathia, Short toe, Hemi... ORPHA:171929
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
De Barsy Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... ORPHA:2962
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi... ORPHA:1112
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac... OMIM:601707
Lowry-Maclean Syndrome
Hypospadias, Delayed eruption of primary teeth, Craniosynostosis, Micrognathia, Hydrocephalus, Wi... ORPHA:2409
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl... ORPHA:284984
Ogden Syndrome
Microretrognathia, Scoliosis, Broad hallux, Delayed cranial suture closure ORPHA:276432
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Short neck, Micrognathia, Low-set ears, Abnormal meta... ORPHA:284160
Geleophysic Dysplasia 1
Short palm, Camptodactyly of finger, Tracheal stenosis, Coxa valga, Pectus excavatum, Short foot,... OMIM:231050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... ORPHA:365
Oculocerebrorenal Syndrome Of Lowe
Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Death in infancy, Glomerulopat... ORPHA:534
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short neck, Micrognathia, Protruding ear, Cli... ORPHA:1587
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Fryns Syndrome
Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short neck, Thoracic hypoplas... OMIM:229850
Cog1-Cdg
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, ... ORPHA:263508
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Sensorineural hearing impairment, P... ORPHA:139471
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Fin... ORPHA:84
Neu-Laxova Syndrome 1
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Finger syndactyly... OMIM:256520
Joubert Syndrome 2
Central apnea, Encephalocele, Episodic tachypnea, Postaxial hand polydactyly, Hydrocephalus, Post... OMIM:608091
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Micrognathia, Small hand, Short foot, Low-set ears, Short palm, Microph... OMIM:241410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Optic nerve hypoplasia, Hydrocephalus, Microtia, Low-set ears, D... OMIM:614643
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Bilateral microphthalmos, Cupped ear, Low-set ears, Cli... ORPHA:2399
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Wide cranial sutures OMIM:619149
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Fraser Syndrome 3
Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth, Low-set ears, Tracheal ... OMIM:617667
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Neonatal asphyxia, Microtia, Recurrent otitis media, Microphthalmia, Abnormality of the outer ear... ORPHA:2728
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairment, Clinodactyly... OMIM:617306
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D... OMIM:236680
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S... ORPHA:2538
Frontonasal Dysplasia 3
Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:613456
Robinow Syndrome
Micrognathia, Hemivertebrae, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Mult... ORPHA:97360
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Anophthalmia, Micrognathia, Dyspnea, Hydrocephalus, Abnormal... ORPHA:2556
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Respiratory failure, Hearin... ORPHA:206436
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Micrognathia, Broad thumb, Brachydactyly OMIM:614526
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, 2-3 toe syndactyly, Scoliosis, Vesicoureteral reflux, Micropenis... OMIM:618653
Adult-Onset Still Disease
Cartilage destruction, Joint swelling, Arthritis ORPHA:829
Momo Syndrome
Underfolded helix, Short neck, Bilateral microphthalmos, Femoral bowing, Large hands, Short stern... ORPHA:2563
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Low-set ears ORPHA:228390
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Hip contracture, Short neck, Micrognathia, Respiratory failure, Overfolded heli... OMIM:300868
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Popliteal p... ORPHA:1300
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Delayed closure of the anterior fontanelle, Limited elbo... OMIM:614008
Fanconi Anemia, Complementation Group C
Absent thumb, Absent radius, Short thumb, Anterior wedging of T12, Microphthalmia, Complete dupli... OMIM:227645
Rubinstein-Taybi Syndrome 1
Micrognathia, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly of the 5th finger, S... OMIM:180849
Spondyloocular Syndrome
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Pectus carinatum, Shield... OMIM:605822
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthropathy, Long clavicles, Pectus excavatum, Clubbing, Large fontanelles, Osteolytic defects of... OMIM:259100
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Sensorineural hearing impairment, Low-set ears OMIM:618652
Oculodentodigital Dysplasia
Abnormal pinna morphology, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th f... OMIM:164200
Rodrigues Blindness
Microphthalmia, Nasal flaring, Protruding ear OMIM:268320
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... OMIM:619727
Boutonneuse Fever
Respiratory failure ORPHA:83313
Mandibuloacral Dysplasia With Type A Lipodystrophy
Down-sloping shoulders, Coxa valga, Micrognathia, Elbow flexion contracture, Progressive clavicul... OMIM:248370
Walker-Warburg Syndrome
Anophthalmia, Posteriorly rotated ears, Hydrocephalus, Protruding ear, Low-set ears, Metatarsus v... ORPHA:899
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Sensorineural hearing impairment, Re... ORPHA:209905
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Posteriorly rotated ears, Rocker bottom foot, ... ORPHA:163979
Fontaine Progeroid Syndrome
Death in infancy, Syndactyly, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, Hyd... OMIM:612289
Stromme Syndrome
Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Preaxial polydactyly, Stillbirth, Low-set ea... OMIM:243605
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency, Equinus calcaneus ORPHA:746
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Catel-Manzke Syndrome
Joint dislocation, Short humerus, Short metacarpal, Short femur, Short neck, Micrognathia, Pectus... OMIM:616145
Tenorio Syndrome
Enuresis, Hydrocephalus, Scoliosis, Delayed cranial suture closure OMIM:616260
Ogden Syndrome
Microretrognathia, Large posterior fontanelle, Prominent metopic ridge, Congenital hip dislocatio... OMIM:300855
Skin Creases, Congenital Symmetric Circumferential, 2
Posteriorly rotated ears, Uplifted earlobe, Short neck, Tapered finger, Long fingers, Micrognathi... OMIM:616734
Charge Syndrome
Anophthalmia, Micrognathia, Hemivertebrae, Hand monodactyly, Holoprosencephaly, Hypoplasia of the... OMIM:214800
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb... OMIM:227646
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Hearing impairment OMIM:620327
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Low-set ears, Microphthal... OMIM:612109
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia ORPHA:3240
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Hemiv... OMIM:118450
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Neonatal respiratory distress, Trident pelvis, Posteriorly rotated ears, Bowed hum... OMIM:619479
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Broad hallux OMIM:614105
Fryns Syndrome
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Narrow chest, Clinodactyly of the 5t... ORPHA:2059
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Sensorineural hearing impairment, Hypopnea, Respiratory failure, Neonata... OMIM:617248
Mandibuloacral Dysplasia
Micrognathia, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Acroosteol... ORPHA:2457
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Mixed hearing impairment, Pectus excavatum, Microphthalmia, Acetabular dysplasi... OMIM:201180
Stickler Syndrome
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Micrognathia, Kyphosis, Osteoarthritis, H... ORPHA:828
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cranium bifidum occultum, Finger clin... ORPHA:306542
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
8Q24.3 Microdeletion Syndrome
Respiratory distress, Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia,... ORPHA:508488
Combined Oxidative Phosphorylation Deficiency 37
Sensorineural hearing impairment, Respiratory failure, Respiratory insufficiency OMIM:618329
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Proteinuria, Decreased fibular diameter, Micrognathia, Pectus excavatum, Osteolytic d... OMIM:619127
D-Bifunctional Protein Deficiency
Thoracic hypoplasia, Micrognathia, Pectus excavatum, Split hand, Large fontanelles, Renal cyst, H... OMIM:261515
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Clinodactyly of the 5th finger, Uplifted earlobe OMIM:620183
Hallermann-Streiff Syndrome
Micrognathia, Small hand, Respiratory insufficiency, Short foot, Rib exostoses, Short ribs, Clino... ORPHA:2108
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Absent thumb, Hemiv... ORPHA:500150
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... ORPHA:420741
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Mixed hearing impairment, Broad hallux, Progressive sensorine... OMIM:620186
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Underfolded helix, Kyphoscoliosis, Micrognathia, Short thumb, Small h... OMIM:268400
Leigh Syndrome
Sensorineural hearing impairment, Macrotia, Abnormal pattern of respiration, Respiratory failure ORPHA:506
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Protruding ear OMIM:152950
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Delayed cranial suture closure, Micrognathia ORPHA:1129
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb OMIM:617883
Otodental Syndrome
High-frequency sensorineural hearing impairment, Lens coloboma, Otitis media with effusion, Progr... ORPHA:2791
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Low-set ears OMIM:612379
Isolated Cleft Lip
Abnormal Eustachian tube morphology, Talipes equinovarus, Conductive hearing impairment, Umbilica... ORPHA:199302
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Scoliosis, Cough, Em... OMIM:613658
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Micro... ORPHA:672
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly ORPHA:1942
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Micrognathia, External ear malformation, Umbilical hernia, Mic... ORPHA:2505
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Conductive hearing impairment, Chronic otitis media, Small earlobe, Ara... ORPHA:567
Dextrocardia
Congenital hip dislocation, Hydrocephalus, Abnormal renal morphology, Abnormal rib morphology, Ab... ORPHA:1666
Warburg Micro Syndrome 2
Overlapping toe, Asymmetry of the ears, Microphthalmia, Macrotia, Clinodactyly of the 4th toe, Cl... OMIM:614225
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... OMIM:609465
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Neonatal respiratory distress OMIM:619053
Meckel Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Bowing of the long bones, Anophthalmia, Microgn... ORPHA:564
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Wrist swelling, Kyphosis, Hip di... OMIM:309000
Galloway-Mowat Syndrome 3
Arachnodactyly, Micrognathia, Pectus excavatum, Hip dislocation, Low-set ears, Camptodactyly, Mic... OMIM:617729
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Hypospadias, Micrognathia, Small hand, Vesicoureteral reflux, Fibular hypopl... ORPHA:444077
Nance-Horan Syndrome
Microphthalmia, Macrotia, Short phalanx of finger, Broad finger OMIM:302350
1P36 Deletion Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the k... ORPHA:1606
Hennekam-Beemer Syndrome
Camptodactyly of finger, Micrognathia, Scoliosis, Clinodactyly of the 5th finger, Delayed cranial... ORPHA:2135
Listeriosis
Back pain, Respiratory distress, Miscarriage, Pneumonia, Respiratory failure, Hearing impairment ORPHA:533
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Oculo-Palato-Cerebral Syndrome
Asthma, Small hand, Short foot, Thickened helices, Microphthalmia, Macrotia ORPHA:2714
Microphthalmia, Syndromic 2
Anophthalmia, Posteriorly rotated ears, Broad hallux, Asymmetry of the ears, Sandal gap, Antevert... OMIM:300166
Menkes Disease
Bowing of the long bones, Tarsal synostosis, Micrognathia, Pectus excavatum, Bladder diverticulum... ORPHA:565
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Micrognathia, Metatarsus adductus, Osteopathia striata, Increased axial length of... ORPHA:513456
Loeys-Dietz Syndrome 3
Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Cysto... OMIM:613795
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Meningoencephalocele, Hydrocephalu... OMIM:236670
Granulomatosis With Polyangiitis
Sinusitis, Tracheal stenosis, Respiratory insufficiency, Cough, Chronic otitis media, Rhinorrhea OMIM:608710
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... OMIM:249000
Bloom Syndrome
Pneumonia, Micrognathia, Chronic pulmonary obstruction, Respiratory failure, Rhinitis, Otitis media ORPHA:125
Incontinentia Pigmenti
Hypoplasia of the fovea, Kyphoscoliosis, Hemivertebrae, Supernumerary ribs, Microphthalmia OMIM:308300
Atypical Werner Syndrome
Renal neoplasm, Rocker bottom foot, Micrognathia, Abnormal thorax morphology, Osteolytic defects ... ORPHA:79474
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ... ORPHA:857
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Posteriorly rotated ears, Abnormal pinna morphology, Micrognath... OMIM:616975
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Omodysplasia 1
Short humerus, Increased fibular diameter, Rhizomelia, Short neck, Micrognathia, Limited knee fle... OMIM:258315
Abetalipoproteinemia
Respiratory failure, Talipes equinovarus, Kyphoscoliosis ORPHA:14
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Low-set ears, Hearing impairment OMIM:616395
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Renpenning Syndrome 1
Micrognathia, Pectus excavatum, Cupped ear, Protruding ear, Scoliosis, Death in childhood, Clinod... OMIM:309500
Trichothiodystrophy 1, Photosensitive
Death in infancy, Asthma, Protruding ear, Microphthalmia, Macrotia OMIM:601675
Autosomal Dominant Cutis Laxa
Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Abnormal curvature of the vertebral ... ORPHA:90348
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Phocomelia, Syndactyly, Hypoplasia of the ulna, Aplasi... OMIM:268300
Coffin-Siris Syndrome 12
Hypospadias, Micrognathia, Pectus excavatum, Short thumb, Slender finger, Noncommunicating hydroc... OMIM:619325
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Hypoplastic iliac wing, Kyphosis,... OMIM:133540
Mandibuloacral Dysplasia With Type A Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Large fontanelles, Osteolytic defects of the distal phalange... ORPHA:90153
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Death in infancy, Low-set ears ORPHA:1790
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Microretrognathia, Arachnodactyly, Pectus excavatum, Large fontanelles, Nephro... OMIM:601776
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Sensorineural hearing impairment, Respiratory insufficiency, Respiratory... OMIM:252010
Nijmegen Breakage Syndrome
Short neck, Hearing abnormality, Recurrent pneumonia, Respiratory failure, Macrotia ORPHA:647
Dubowitz Syndrome
Syndactyly, Sacral dimple, Micrognathia, Protruding ear, Hypoplasia of the iris, Otitis media, Lo... OMIM:223370
Lymphedema-Distichiasis Syndrome
Microphthalmia, Kyphosis, Chylothorax, Micrognathia OMIM:153400
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Galloway-Mowat Syndrome 1
Micrognathia, Hypoplasia of the iris, Talipes equinovarus, Low-set ears, Camptodactyly, Hand clen... OMIM:251300
Cat Eye Syndrome
Micrognathia, Absent radius, Umbilical hernia, Low-set ears, Microphthalmia, Stenosis of the exte... OMIM:115470
Malignant Atrophic Papulosis
Pleural effusion, Vertigo, Respiratory failure ORPHA:679
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly OMIM:147250
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly OMIM:618727
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Micrognathia, Postaxial hand polydactyly, Hydro... ORPHA:2166
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ... OMIM:600901
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Tympanosclerosis OMIM:240300
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Macrotia, Low-set ears OMIM:615145
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure... ORPHA:2907
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Duplication of thumb ph... OMIM:612474
Papillorenal Syndrome
Microphthalmia, Sensorineural hearing impairment, Scoliosis OMIM:120330
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Apnea, Hydrocephalus, Abnormal rib morphology, Abnormal epiphysis morph... ORPHA:667
Linear Nevus Sebaceus Syndrome
Microphthalmia, Vertebral segmentation defect ORPHA:2612
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers ORPHA:335
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ... OMIM:227650
Witteveen-Kolk Syndrome
Glue ear, Uplifted earlobe, Proximal placement of thumb, Protruding ear, Short palm, Clinodactyly... OMIM:613406
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Osteochondrosis ORPHA:2396
Immunodeficiency 49
Wormian bones, Natal tooth, Umbilical hernia, Micrognathia OMIM:617237
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Bilateral microphthalmos, Respiratory insufficiency, Low-set ears, Ne... OMIM:601186
Degcags Syndrome
Micrognathia, Syndactyly, Short thumb, Low-set ears, Tracheomalacia, Unilateral conductive hearin... OMIM:619488
Branchiooculofacial Syndrome
Anophthalmia, Posteriorly rotated ears, Proximal placement of thumb, Hyperlordosis, Short neck, K... OMIM:113620
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, Abnormality of the kidney,... ORPHA:2273
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Micrognathia, Anteverted ears, Hip dislocation, Umbilical hernia, Holoprosenceph... OMIM:613884
Wrinkly Skin Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... ORPHA:2834
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Low-set ears OMIM:613451
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Short neck, Delayed proximal femoral epiphyseal ossification, Hand po... ORPHA:226307
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Trichothiodystrophy
Hypoplasia of mandible relative to maxilla, Bilateral microphthalmos, Clubbing, Protruding ear, B... ORPHA:33364
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Hearing impairment, Protruding ear ORPHA:1806
Holoprosencephaly 7
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Absent ... OMIM:610828
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... ORPHA:364577
Isolated Arrhinia
Respiratory distress, Microphthalmia, Microtia, Absent nasal septal cartilage ORPHA:1134
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Sacral dimple, Scapular winging... OMIM:619539
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal pinna morphology, Aplasia/... OMIM:219000
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Macrotia OMIM:234050
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Apnea, Micrognathia, Holoprosencephaly, Clinodactyly of the 5t... ORPHA:1052
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Microretrognathia, Optic nerve hypoplas... ORPHA:468631
Microphthalmia, Syndromic 1
Prominent fingertip pads, Syndactyly, Lumbar hyperlordosis, Anophthalmia, Abnormal pinna morpholo... OMIM:309800
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Pilonidal sinus, Unilateral renal agenesis, Micrognathia, P... OMIM:188400
Currarino Syndrome
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum ORPHA:1552
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Low-set ears ORPHA:2470
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Patent urachus, Death in childhood OMIM:618252
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Stridor, R... ORPHA:79404
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ... ORPHA:90674
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Prominent antihe... OMIM:610829
Reactive Arthritis
Cartilage destruction, Arthritis, Recurrent urinary tract infections, Joint swelling ORPHA:29207
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Medulloblastoma
Back pain, Hydrocephalus, Delayed cranial suture closure ORPHA:616
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Ayme-Gripp Syndrome
Tapered finger, Pectus excavatum, Radioulnar synostosis, Camptodactyly, Craniofacial asymmetry, D... OMIM:601088
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Posteriorly rotated ears, Micrognathia, Aplasia of the distal phalanx of the 5th toe, Sensorineur... OMIM:608670
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Pallister-Killian Syndrome
Congenital hip dislocation, Short neck, Micrognathia, Renal cyst, Camptodactyly of 2nd-5th finger... OMIM:601803
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Cortical thicke... ORPHA:93325
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Cockayne Syndrome Type 3
Kyphosis, Adult onset sensorineural hearing impairment, Scoliosis, Conductive hearing impairment,... ORPHA:90324
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Laryngeal stenosis, Camptodactyly of finger, Phimosis, Abn... ORPHA:2908
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Pectus excavatum, Unilateral microphthalmos, Adducted thumb OMIM:618874
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Respiratory failure... ORPHA:731
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Death in infancy, Spin... ORPHA:991
Microphthalmia, Syndromic 6
Finger syndactyly, Brachydactyly, Anophthalmia, Posteriorly rotated ears, Toe syndactyly, Uplifte... OMIM:607932
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Pectus excavatum, Short finger, Microphthalmia OMIM:601552
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos OMIM:310600
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Atresia of the external aud... OMIM:603457
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Histiocytoid Cardiomyopathy
Hydrocephalus, Tachypnea, Cough, Microphthalmia, Congenital aphakia ORPHA:137675
Tetraamelia Syndrome 1
Micrognathia, Hydrocephalus, Hypoplastic pelvis, Low-set ears, Microphthalmia, Tetraamelia OMIM:273395
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Osteoarthritis, Cystocele, Hip dislocation, Scoliosis, Worm... ORPHA:285
Holoprosencephaly 2
Alobar holoprosencephaly, Absent nasal septal cartilage, Holoprosencephaly, Scoliosis, Microphtha... OMIM:157170
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus ORPHA:805
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia, Hearing impairment ORPHA:646
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Sensorineural hearing impairment OMIM:610651
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Cupped ear OMIM:110100
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Sensorineural hearing impairment OMIM:278730
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Kyphosis, Abnormal epiphysis morphology, Scolios... ORPHA:191
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Delayed cranial suture closure OMIM:613038
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Posteriorly rotated ears, Broad... ORPHA:261537
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Pulmonary arterial hypertension, Talipes equinovarus, Microphthalm... OMIM:100300
Aspartylglucosaminuria
Aspartylglucosaminuria, Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scol... OMIM:208400
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Posteriorly rotated ears, Broad... ORPHA:2152
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Protruding ear, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Norrie Disease
Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment, Protruding ear, Hypoplasia of t... ORPHA:649
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia, Hypoplasia of the frontal bone OMIM:229400
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Death... OMIM:609049
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Hearing impairment OMIM:309801
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Posteriorly rotated ears, Broad... ORPHA:261552
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Igg4-Related Thyroid Disease
Tracheal stenosis ORPHA:64744
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Phace Syndrome
Microphthalmia, Abnormal sternum morphology, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Micro... ORPHA:141099
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Treacher Collins Syndrome 1
Micrognathia, Bilateral microphthalmos, Microtia, Atresia of the external auditory canal, Conduct... OMIM:154500
Mowat-Wilson Syndrome
Uplifted earlobe, Pectus excavatum, Cupped ear, Pectus carinatum, Large earlobe, Recurrent otitis... OMIM:235730
Holoprosencephaly 1
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Pmm2-Cdg
Proteinuria, Kyphoscoliosis, Long fingers, Nephrotic syndrome, Platyspondyly, Multiple renal cyst... ORPHA:79318
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780

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 Bmper

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 Bmper.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Bmpertm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bmpertm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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