Gene Summary

collagen, type XXVII, alpha 1

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta morphology Col27a1em1(IMPC)Mbp HET E15.5 0.00
abnormal spleen morphology Col27a1em1(IMPC)Mbp HET Early adult 0.00
increased bone mineral density Col27a1em1(IMPC)Mbp HET Early adult 5.57×10-05
preweaning lethality, complete penetrance Col27a1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal craniofacial morphology Col27a1em1(IMPC)Mbp HOM E15.5 0.00
abnormal facial morphology Col27a1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Col27a1em1(IMPC)Mbp HET E15.5 0.00
small spleen Col27a1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Col27a1em1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Col27a1em1(IMPC)Mbp HET Early adult 0.00
blind uterus Col27a1em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Col27a1em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Col27a1em1(IMPC)Mbp HET Early adult 0.00
edema Col27a1em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Col27a1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Col27a1em1(IMPC)Mbp HOM E15.5 0.00

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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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Col27a1 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 Col27a1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Steel Syndrome
Dislocated radial head OMIM:615155

The table below shows human diseases predicted to be associated to Col27a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Respiratory insufficiency, Inguinal he... OMIM:600972
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Splenomegaly, Hepatomegaly, Abnormality of the urinary system, Ab... ORPHA:2204
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... OMIM:224300
Achondrogenesis Type 1A
Short palm, Aplasia/Hypoplasia of the lungs, Short thorax, Abnormal enchondral ossification, Recu... ORPHA:93299
Renal Dysplasia-Limb Defects Syndrome
Phocomelia, Intrauterine growth retardation, Short sternum, Short ribs, Short metacarpal, Thin ri... OMIM:266910
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Short thorax, Abnormal enchondral ossification, Micrognathia, Fe... ORPHA:93298
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Sandal gap, Respirator... OMIM:256050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Abno... ORPHA:2631
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Rickets of the lower limbs, Hepatocellular... ORPHA:882
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory failure, Respiratory insufficiency, Arthrogryposis multiplex c... OMIM:208081
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Elbow flexion contracture, Micrognathia, Knee flexion contracture, Inguinal hernia, Adducted thum... OMIM:616266
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Nephronophthisis 16
Enlarged kidney, Cholestasis, Polycystic kidney dysplasia, Renal insufficiency, Nephronophthisis,... OMIM:615382
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Respiratory failure, Inguinal hernia, Adducted thumb,... OMIM:618011
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Overlapping fingers, Congenital hip dislocation, Respiratory failure, Microg... OMIM:618291
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Hernia of the abdominal wall, Micrognathia, Long thorax, Mesomelia, Abnormal shoul... ORPHA:1277
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Brachydactyly, Short ... OMIM:186500
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Respiratory failure, Micrognathia, Respiratory insufficiency due to muscle we... OMIM:611890
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Bell-shaped thorax, Short long b... OMIM:611702
Axial Osteomalacia
Polycystic liver disease, Increased bone mineral density, Renal cyst, Osteomalacia OMIM:109130
Myasthenic Syndrome, Congenital, 19
Distal joint laxity, Micrognathia, Retrognathia, Pectus carinatum, Recurrent lower respiratory tr... OMIM:616720
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Osteoporosis, Abnormal B cell count, Anemia, Bence Jones Proteinuria,... ORPHA:100024
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Jawad Syndrome
4-5 toe syndactyly, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Absent fou... OMIM:251255
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy... ORPHA:37748
Aplasia/Hypoplasia of the lungs, Short thorax, Abnormal enchondral ossification, Micrognathia, Mi... ORPHA:932
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Micrognathia ORPHA:1918
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Respiratory failure, Micrognathia, Neonatal death, Respiratory insufficie... OMIM:228940
Bowing of the long bones, Coxa valga, Short palm, Square pelvis bone, Delayed eruption of teeth, ... ORPHA:166272
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Seckel Syndrome 4
11 pairs of ribs, Intrauterine growth retardation, Steep acetabular roof, Retrognathia OMIM:613676
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Respiratory failure, Hypoplasi... OMIM:617895
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Micromelia, Generalized osteosclerosis, Limb undergrowth, ... ORPHA:1423
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Abnormality of femoral epiphysis, Ir... ORPHA:750
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Anterior rib cupping, Short thorax, Joint stiffness, Late... ORPHA:1801
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosi... ORPHA:210110
Scarf Syndrome
Craniosynostosis, Diastasis recti, Enamel hypoplasia, Short sternum, Inguinal hernia, Hypocalcifi... ORPHA:3134
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Spondylometaphyseal Dysplasia, X-Linked
Tapered finger, Respiratory failure, Sclerosis of skull base, Knee flexion contracture, Short fin... OMIM:313420
Increased bone mineral density OMIM:166450
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Marshall-Smith Syndrome
Clinodactyly of the 5th finger, Bullet-shaped middle phalanges of the hand, Hallux valgus, Retrog... OMIM:602535
Increased bone mineral density OMIM:265880
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure, Micrognathia, Dyspnea, Mandibular aplasia, ... ORPHA:1832
Odontochondrodysplasia 1
Genu varum, Delayed ossification of carpal bones, Osteoporosis, Micromelia, Metaphyseal widening,... OMIM:184260
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Kniest Dysplasia
Tracheomalacia, Abnormal cartilage collagen, Flared metaphysis, Inguinal hernia, Flattened, squar... OMIM:156550
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis OMIM:615415
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Limit... OMIM:146000
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Late inspirat... ORPHA:2302
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Cholestasis, Acute kidney injury, Proteinuria, Abnormality o... ORPHA:85445
Tarp Syndrome
Clinodactyly, Intrauterine growth retardation, Cutaneous syndactyly, Short sternum, Hypoplasia of... OMIM:311900
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Malar flattening, Limb undergrowth, Short... OMIM:118651
Renal Dysplasia
Pelvic mass, Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic... ORPHA:93108
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Shoulder dislocation, Thoracic scoliosis, Ventral hernia, Squared iliac bones, Osteop... OMIM:618000
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Thoracic scoliosis, Intrauterine growth retardation, Joint contractu... OMIM:600325
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Short phalanx of finger, Micrognathia, Micromelia, Inguinal hernia, Abn... OMIM:225410
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Prieto Syndrome
Clinodactyly, Coxa valga, 11 pairs of ribs, Osteoporosis, Inguinal hernia, Retrognathia, Talipes ... OMIM:309610
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Donnai-Barrow Syndrome
Short sternum, Congenital diaphragmatic hernia, Omphalocele, Wide anterior fontanel, Malar flatte... OMIM:222448
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Supernumerary ribs, Coxa valga, Osteoporosis, Inguinal hernia, Ret... ORPHA:2958
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Scarf Syndrome
Lambdoidal craniosynostosis, Diastasis recti, Enamel hypoplasia, Short sternum, Coronal craniosyn... OMIM:312830
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Distal arthrogryposis, Flexion contracture, Elbow flexion contracture, Internally rotated shoulde... OMIM:617468
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Retic... OMIM:611490
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Urete... OMIM:208540
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Respiratory insufficiency, Congenital diaphragmatic h... ORPHA:1488
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Respiratory failure, Hypoplasia of the capital femoral epiphysis OMIM:600561
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia o... ORPHA:1263
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Mesomelia-Synostoses Syndrome
Brachydactyly, Synostosis of carpal bones, Umbilical hernia, Joint stiffness, Clinodactyly of the... ORPHA:2496
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Surfactant Metabolism Dysfunction, Pulmonary, 1
Clubbing, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Delayed eruption of teeth, Short sternum, Abnormal bo... ORPHA:2563
Adams-Oliver Syndrome 4
Umbilical hernia, Short toe OMIM:615297
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Craniosynostosis, Finger syndactyly, Postaxial foot polydactyly, Congenital diaph... ORPHA:380
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Short sternum, Supernumerary tooth, Pectus excavatum, Postaxial hand ... OMIM:258850
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Pectus excavatum,... OMIM:614399
Arthrochalasia Ehlers-Danlos Syndrome
Scarring, Coxa valga, Joint stiffness, Micrognathia, Femoral hernia, Inguinal hernia, Abnormality... ORPHA:1899
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Narrow chest, Mesomelia,... OMIM:611263
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Squared iliac bo... OMIM:215045
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture, Intrauterine growth retardation, Long toe, Diastasis recti, Coat hanger sign... ORPHA:254528
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Phocomelia, Short sternum, Short ribs, Short metacarpal, Thin r... ORPHA:3404
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Bone marrow hypocellularity, Increased bone mineral density, Hyperosto... OMIM:231095
Cornelia De Lange Syndrome 1
Clinodactyly of the 5th finger, Micrognathia, Micromelia, Inguinal hernia, Supernumerary ribs, 2-... OMIM:122470
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Muscular Hypertonia, Lethal
Umbilical hernia, Pneumonia OMIM:254120
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Amelogenesis imperfecta, Flattened epiphysis, Coxa valga, ... OMIM:618363
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Bone marrow hypocellularity, Hip osteoarthritis... OMIM:166600
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Abnormality ... OMIM:612840
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs,... OMIM:304120
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Splenomegaly, Abnormal cortical bone morphology ORPHA:1802
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Short ribs, Neonatal respiratory distress, Squared iliac bones, Death in childhood... OMIM:618961
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Diastrophic Dysplasia
Camptodactyly of finger, Micrognathia, Abnormal rib morphology, Micromelia, Hip dysplasia, Bowing... ORPHA:628
Imagawa-Matsumoto Syndrome
Clinodactyly, Mandibular prognathia, Camptodactyly, Umbilical hernia, Large hands OMIM:618786
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger, Intrauterine... ORPHA:2872
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Short toe, Mandibular prognathia, Genu va... OMIM:619636
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Greenberg Dysplasia
Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Lymp... OMIM:618495
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Short... ORPHA:63446
Achondrogenesis Type 2
Absent vertebral body mineralization, Delayed proximal femoral epiphyseal ossification, Short rib... ORPHA:93296
Nephronophthisis 19
Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Stage 5 chron... OMIM:616217
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Thin ribs, Decreased cranial base ossific... OMIM:151210
Kaposiform Lymphangiomatosis
Fractures of the long bones, Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts,... ORPHA:464329
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Neonatal death, Micrognathia, Abnormality of the abdominal wall, Malar ... OMIM:224410
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Radially deviated wrists, Abnormality of e... ORPHA:166002
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Intrauterine growth retardation, Short thorax, Respiratory insufficiency, Cong... ORPHA:2311
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Elbow flexion contracture, Micromelia, Flared metaphysis, Malar ... OMIM:601561
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Fetal Akinesia Deformation Sequence 4
Flexion contracture, Rocker bottom foot, Micrognathia, Arthrogryposis multiplex congenita, Retrog... OMIM:618393
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Bowing of the legs, Narrow iliac wing, Hypoplastic pubic bone, Posterior rib... OMIM:608728
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Dental malocclusion, Partial duplication of the phalanx of hand, Mic... OMIM:616331
Momo Syndrome
Delayed eruption of teeth, Short sternum, Dental malocclusion, Large hands, Taurodontia OMIM:157980
Tarp Syndrome
Clinodactyly, Hypoplasia of proximal radius, Finger syndactyly, Intrauterine growth retardation, ... ORPHA:2886
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Clubbing, Hypersensitivity pneumonitis, Nonproductive cough, Restrictive ventilatory d... ORPHA:79127
Idiopathic Bronchiectasis
Emphysema, Clubbing, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Re... ORPHA:60033
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Joint... OMIM:602557
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Turnpenny-Fry Syndrome
Clinodactyly, Thoracic kyphoscoliosis, Dental malocclusion, Intrauterine growth retardation, Shor... OMIM:618371
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Increased bone mineral density, Biliary tract obstruction, Osteopenia, ... ORPHA:77259
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Intrauterine growth retardation, Clinodactyly of the 5th finge... OMIM:616145
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of fibula morphology, Diaph... ORPHA:1803
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Cholestasis, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short femoral neck, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Sho... OMIM:271530
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Flexion contracture, Long toe, Hyperextensibility at... ORPHA:75840
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Respi... OMIM:615633
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the 5th finger, Micrognathia, Congenital contracture, Inguinal hernia, Arthr... ORPHA:352490
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Metatropic Dysplasia
Joint stiffness, Aplasia/Hypoplasia of the lungs, Abnormal enchondral ossification, Clinodactyly ... ORPHA:2635
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Short palm, Micrognathia, Radioulnar ... ORPHA:171839
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Limited elbow flexion, Limited knee ... ORPHA:266
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Micromelia, Arachnodactyly, Umbilical hernia, Genu valgum, Joint hyperflexibility ORPHA:1035
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Clinodactyly of the 5th finger, Umbilical hernia, Craniosynostosis, Micrognathia ORPHA:1516
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney d... OMIM:617805
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Asymmetry of the t... ORPHA:1350
Majeed Syndrome
Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Increased bone mineral density,... ORPHA:77297
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of epiphysis morphology, Hernia, Short ribs, Rhizomelia, R... ORPHA:1842
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thu... OMIM:227270
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Intrauterine growth retardation OMIM:301021
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Aarskog-Scott Syndrome
Finger syndactyly, Short palm, Joint hyperflexibility, Delayed eruption of teeth, Abnormal verteb... ORPHA:915
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Hypoplastic cervical vertebrae, Costal cartilage calcif... OMIM:222600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Flexion contracture, Short ribs, Epiphyseal stippling, Mild intrauterine gr... OMIM:308050
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Respiratory insufficiency, Neonatal death, Apnea, Split hand OMIM:610127
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Thoracolumbar kyphoscoliosis, Short ... OMIM:618853
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Ascites, Pancrea... OMIM:276700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Clinodactyly of the 5th finger, Respiratory failure, Abnormal rib morphology, Dyspn... ORPHA:2759
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Pancreatic cysts, Hematuria, Decrea... ORPHA:730
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Flexion contracture, Decreased skull ossification, Micrognathia, Congenit... OMIM:263210
Wt Limb-Blood Syndrome
Absent thumb, Clinodactyly of the 5th finger, Short phalanx of finger, Short thumb, Joint contrac... OMIM:194350
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, 2-3 toe syndactyly, Tapered finger, Congenital diap... ORPHA:284180
Weaver Syndrome
Finger syndactyly, Joint stiffness, Sandal gap, Micrognathia, Inguinal hernia, Abnormality of the... ORPHA:3447
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Postaxial foot polydactyly, Joint contracture of the hand, Broad hallux, Inguin... OMIM:175700
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density ORPHA:172
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Atelosteogenesis Type Ii
Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviation of the hand or o... ORPHA:56304
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Arthrogryposis, Distal, Type 1A
Absent distal interphalangeal creases, Trismus, Abnormal thorax morphology, Hand clenching, Ulnar... OMIM:108120
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Anemi... OMIM:259700
Arthrogryposis, Distal, Type 1C
Metacarpophalangeal joint contracture, Elbow flexion contracture, Rocker bottom foot, Clinodactyl... OMIM:619110
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Metaphyseal irregularity, Recurrent upper respiratory tract infections, Join... OMIM:253200
Sialidosis Type 2
Flexion contracture, Short thorax, Osteoporosis, Dyspnea, Inguinal hernia, Pectus carinatum, Umbi... ORPHA:87876
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:616081
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Neonata... ORPHA:79301
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Flexion contracture, Proteinuria, Nephr... OMIM:617303
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Frank-Ter Haar Syndrome
Brachydactyly, Joint stiffness, Delayed eruption of teeth, Clinodactyly of the 5th finger, Inguin... ORPHA:137834
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial foot polydactyly, Short sternum, Pectus excavatum, Postaxial hand po... ORPHA:2752
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Silver-Russell Syndrome Due To 11P15 Microduplication
Clinodactyly of the 5th finger, Umbilical hernia, Severe intrauterine growth retardation, Intraut... ORPHA:231144
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Short thorax, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Shor... OMIM:617102
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Umbilical hernia, Joint hypermobility OMIM:617174
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Pectus excavatum, Limited elbow extension, Limb undergrowth, Thoracic hypoplasia ORPHA:156728
Radio-Renal Syndrome
Brachydactyly, Chylothorax, Short palm, Respiratory failure, Hypoplasia of the radius, Pleural ef... ORPHA:3015
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Craniosynostosis, Cystic renal dysplasia, Ascites, Hepatomegaly, Pancreatic fibr... OMIM:200995
Thoracic Dysplasia-Hydrocephalus Syndrome
Short ribs, Thoracic dysplasia, Respiratory failure, Respiratory insufficiency, Limb undergrowth,... OMIM:273730
Kagami-Ogata Syndrome
Coxa valga, Flexion contracture, Diastasis recti, Thin ribs, Micrognathia, Inguinal hernia, Ompha... OMIM:608149
Hypoxemia, Hip joint hypermobility, Central sleep apnea, Narrow greater sciatic notch, Brachydact... ORPHA:15
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Adducted thumb, Arthrogryposis multiplex congenita, Neon... OMIM:619334
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide... OMIM:187600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Irregular femoral epiphysis, Upper-limb metaphyseal irregularity, Short long bone, Lo... OMIM:618728
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Dislocated radial head, Osteoporosis, Joint hypermobility, Arachn... OMIM:614856
Intellectual Developmental Disorder, Autosomal Recessive 41
Clinodactyly of the 5th finger, Retrognathia, Mandibular prognathia OMIM:615637
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Short thorax, Hypop... ORPHA:85166
Roifman-Chitayat Syndrome
Pneumonia, Osteopenia, Arthritis, Short metacarpal, Cone-shaped epiphysis, Umbilical hernia, Shor... OMIM:613328
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Temporomandibular ... ORPHA:2741
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Knee joint hypermobility, Delayed epiphyseal ossification... ORPHA:93308
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Osteoporosis... OMIM:232220
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Inguinal hernia, Umbilical hernia, Abnormality of femoral epiphysis, Epiphyseal dysplasia OMIM:601351
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Osteoporosis... OMIM:232200
Schwartz-Jampel Syndrome, Type 1
Umbilical hernia, Coxa valga, Joint contracture of the hand, Congenital hip dislocation, Osteopor... OMIM:255800
Weaver Syndrome
Clinodactyly, Diastasis recti, Flared humeral metaphysis, Radial deviation of finger, Flared femo... OMIM:277590
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Progeroid Syndrome, Petty Type
Shagreen patch, Intrauterine growth retardation, Lipoatrophy, Reduced subcutaneous adipose tissue... ORPHA:2963
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Inguinal hernia, Abnormal rib cage morphology, Metaphyseal widening, Hip disloca... OMIM:252500
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fibular hypopl... OMIM:200700
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Micromelia, Flared, irregular rib ends, Limitation of joint mobility, Coxa vara ORPHA:168555
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Chronic kidney disease, Congenital hepatic fibrosis, Premature ov... ORPHA:3156
Rubinstein-Taybi Syndrome 2
Carious teeth, Broad hallux, Micrognathia, Retrognathia, Broad thumb, Dental malocclusion, Syndac... OMIM:613684
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... OMIM:210720
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Respiratory failure, Respiratory insufficiency, Abnormality of conne... ORPHA:370968
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Chronic bronchitis, Retrognathia OMIM:614069
Intellectual Developmental Disorder, Autosomal Dominant 26
Intrauterine growth retardation, Micrognathia, Inguinal hernia, Arthrogryposis multiplex congenit... OMIM:615834
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Joint laxity, Congenital diaphragmatic hernia, Pectus excavatum, Arachnodactyly, Recur... OMIM:219100
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Arachnodactyly, Adducted thumb, Umbilical hernia, Joint hyperflexibility ORPHA:2181
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Intrauterine growth ret... OMIM:619057
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenatal fractures, T... OMIM:166210
Bowing of the long bones, Emphysema, Craniosynostosis, Recurrent fractures, Respiratory insuffici... ORPHA:436
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Po... ORPHA:65759
Brachydactyly, Thoracic hypoplasia, Limb undergrowth, Short long bone ORPHA:221054
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Recurrent fractures, Histiocytosis, Micro... ORPHA:168569
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Small hand, B... OMIM:228520
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Carious teeth, Down-sloping shoulders, Malar flatt... ORPHA:1390
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Flexion contracture, Joint stiffness, Chronic bronc... OMIM:253220
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Micrognathia, Inguinal hernia, Metaphyseal widening, Genu valgum, Super... OMIM:182212
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Micrognathia, Micromelia, Limb undergrowth OMIM:269870
Atelosteogenesis, Type I
Vertebral hypoplasia, 11 pairs of ribs, Micrognathia, Narrow chest, Encephalocele, Brachydactyly,... OMIM:108720
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture OMIM:615348
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Thin ribs, Joint laxity,... OMIM:617952
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hypoplastic ischia, Encephalocele, Flexion contracture, Hypoplastic pubic bon... ORPHA:1865
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Intrauterine... ORPHA:2145
Pallister-Hall-Like Syndrome
Short ribs, Occipital encephalocele, Micrognathia, Micromelia, Postaxial hand polydactyly, Hip di... OMIM:241800
Lethal Kniest-Like Dysplasia
Brachydactyly, Anterior rib cupping, Hypoplastic vertebral bodies, Short ribs, Flared metaphysis,... ORPHA:2347
Myopathy, Centronuclear, 5
Respiratory insufficiency, Hip contracture, Micrognathia, Retrognathia OMIM:615959
Mucopolysaccharidosis Type 7
Abnormal hip bone morphology, Joint stiffness, Epiphyseal stippling, Diaphyseal thickening, Abnor... ORPHA:584
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Upper airway obstructi... ORPHA:440354
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Rhizomeli... ORPHA:1426
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Pectus excavatum, Micromelia, Limb undergrowth, Massively thickened long bone cort... OMIM:122900
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anemia, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility at elbow, Osteoarthritis, Cigarette-paper scars, Pectus excavatum, Inguinal he... OMIM:130000
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Flexion contracture, Respiratory insufficiency OMIM:613869
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Wide distal femoral metaphysis, Thickened cortex of long bones, Tibial bowing, Inc... OMIM:269150
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Recurrent fractures, Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Idiopathic Congenital Hypothyroidism
Abnormality of epiphysis morphology, Umbilical hernia, Delayed proximal femoral epiphyseal ossifi... ORPHA:95717
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Tracheomalacia, Abnormal liver lobulat... OMIM:608022
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, 2-3 toe syndactyly, Sandal gap, Joint contracture of the 5th finger, Micrognathia,... OMIM:618914
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Short Stature, Brussels Type
Delayed epiphyseal ossification, Narrow chest, Microretrognathia, Calcification of cartilage ORPHA:2867
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Arachnodactyly, Limitation of jo... ORPHA:171719
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Abnormal cartilage matrix, Neonatal death, Respiratory insufficiency, Pulmonary h... OMIM:245650
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Clinodactyly, Umbilical hernia OMIM:618164
Thoracic Dysplasia-Hydrocephalus Syndrome
Narrow chest, Respiratory failure, Abnormality of the metaphysis, Limb undergrowth ORPHA:1861
Severe Congenital Nemaline Myopathy
Flexion contracture, Multiple prenatal fractures, Thin ribs, Respiratory failure, Abnormal thorax... ORPHA:171430
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea, Respirat... OMIM:263000
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Apnea, Missing ribs, Craniosynostosis, Osteopenia, Joint stiffness, Nar... ORPHA:2462
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Cantu Syndrome
Coxa valga, Broad first metatarsal, Short hallux, Osteoporosis, Broad hallux, Hypoplastic ischiop... OMIM:239850
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Splenomegaly, Hypoplasia of penis, Anemia, A... ORPHA:1046
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Arthrogryposis multiplex congenita, Retrogn... OMIM:615330
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Rhizomelia, Epiphyseal stippling, Abnormality of the metaphy... ORPHA:177
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Sandal gap, Joint laxity, Micrognathia, Inguinal hernia, Malar flatten... OMIM:613177
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Bifid distal phalanx of toe, Micrognathia, Inguinal hernia, Vertebral... OMIM:268310
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Short thorax, Abnormality of epiphysis morphology ORPHA:93283
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Central sleep apnea, Neonatal respiratory distress, Apnea, Split hand ORPHA:168486
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Smith-Kingsmore Syndrome
Diastasis recti, Short proximal phalanx of finger, Rhizomelia, Short distal phalanx of finger, Th... OMIM:616638
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Intrauterine growth retardation, Multiple prenatal fractures, Osteopenia, Sh... OMIM:616897
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Arthrogryposis Multiplex Congenita 5
Limitation of knee mobility, Restrictive ventilatory defect, Flexion contracture, Elbow flexion c... OMIM:618947
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Diastasis recti, Metaphyseal spurs, Hernia of the a... ORPHA:96334
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping of proximal ph... OMIM:300863
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Diastasis recti, Short greater sciatic notch, Inguinal h... OMIM:312870
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Craniosynostosis, Recurrent fractures, Proteinuria, Macroscopic hematuria, Membr... ORPHA:251004
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Ollier Disease
Multiple enchondromatosis, Joint stiffness, Micromelia, Abnormal cartilage morphology, Abnormalit... ORPHA:296
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short phalanx of finger, Micromelia, Inguinal hernia, Limited elbow... OMIM:180870
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Broad femoral neck, Genu valgum, W... ORPHA:239
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Joint stiffness, Intrauterine growth retardation, Short... ORPHA:2655
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Abnormal thora... ORPHA:70587
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Autosomal Recessive Multiple Pterygium Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Intrauterine growth retarda... ORPHA:2990
Hurler-Scheie Syndrome
Joint stiffness, Contracture of the distal interphalangeal joint of the fingers, Micrognathia, In... OMIM:607015
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Umbilical hernia ORPHA:1373
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Delayed proximal femoral epiphyseal ossific... OMIM:250230
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal respiratory system physiology, Aplasia/hypoplasia involving bones of the extremities, Hy... ORPHA:93346
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Distal renal tubular acidosis, An... OMIM:259730
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Acromesomelia, Recurrent pneumonia, Joint laxity, Short 5th finger, Umbilical hernia, Tracheobron... ORPHA:500159
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal thumb morphology, Abnormality of the ulna, Ab... ORPHA:2639
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Stage 5 chronic kidney disease, Nephr... OMIM:615559
Primary Ciliary Dyskinesia
Clubbing, Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Respirato... ORPHA:244
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Abnormality of epiphysis morphology, Respirator... ORPHA:226313
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Short palm, Coronal craniosynostosis, Joint contracture of the hand, Delayed er... OMIM:235510
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Arthrogryposis multiplex congenita, Retrognathia OMIM:619072
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Multiple Pterygium Syndrome, Escobar Variant
Umbilical hernia, Dislocated radial head, Bilateral camptodactyly, Rocker bottom foot, Neonatal r... OMIM:265000
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Flexion contracture, Intrauterine growth retardation, Respiratory failure, Retrognathia, Camptoda... ORPHA:1194
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger... ORPHA:3079
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Arterial Tortuosity Syndrome
Hiatus hernia, Flexion contracture, Joint laxity, Micrognathia, Congenital diaphragmatic hernia, ... OMIM:208050
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Spina bifida, Abn... ORPHA:93323
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Cupped ribs, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Intermediate Nemaline Myopathy
Flexion contracture, Multiple prenatal fractures, Respiratory failure, Abnormal thorax morphology... ORPHA:171433
Vascular Malformation, Primary Intraosseous
Supraumbilical raphe, Umbilical hernia, Diastasis recti OMIM:606893
Coffin-Siris Syndrome 1
Coxa valga, Intrauterine growth retardation, Delayed eruption of teeth, Short sternum, Dislocated... OMIM:135900
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Brachydactyly, Short ribs, Narrow chest, Hypoplastic scapulae, Respiratory insufficiency, Abnorma... ORPHA:2021
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Aplasia/Hypoplasia of the lungs,... ORPHA:3429
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Osteoporosis, Increased ... ORPHA:98848
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Osteopenia, Down-sloping shoulders, Retrognathia, Short clavicles OMIM:212112
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Lipid accumulation in hepatocytes, Hepatom... OMIM:608836
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Inguinal hernia, Short toe, Narrow chest, Brachydactyly, Bowing of the legs, Int... OMIM:269860
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Respiratory failure OMIM:604801
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Joint hyperflexibility, Delayed eruption of t... ORPHA:2484
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly, Shortening of all distal phalanges of the fingers, Flexion contracture, 2-3 toe syn... OMIM:616809
Micrognathia, Adducted thumb, Long fingers, Retrognathia, Abnormality of finger ORPHA:79333
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... OMIM:250215
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Cirrhosis, Arthritis OMIM:602390
Ck Syndrome
Micrognathia, Joint hypermobility, Malar flattening, Retrognathia, Abnormal digit morphology OMIM:300831
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Focal Dermal Hypoplasia
Diastasis recti, Hernia, Inguinal hernia, Spina bifida, Coarse metaphyseal trabecularization, Apl... ORPHA:2092
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Micrognathia, Retrognathia OMIM:615524
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Proteus Syndrome
Lymphangioma, Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Calva... OMIM:176920
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Beemer-Ertbruggen Syndrome
Cryptorchidism, Ambiguous genitalia, Thrombocytopenia, Increased bone mineral density ORPHA:1237
Spinocerebellar Ataxia, Autosomal Recessive 31
Clinodactyly of the 5th finger, Death in childhood, Retrognathia, Pectus excavatum OMIM:619422
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Irregular epiphyses, Rhizomelia, Joint laxity, Barrel-shaped chest, Malar flatteni... OMIM:612813
Léri-Weill Dyschondrosteosis
Genu varum, Abnormality of the ulna, Abnormal hip bone morphology, Clinodactyly of the 5th finger... ORPHA:240
Achondrogenesis, Type Ia
Hypoplastic ischia, Short ribs, Hypoplastic scapulae, Hypoplasia of the radius, Decreased skull o... OMIM:200600
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Joint stiffness, Sprengel anomaly, Joint ... ORPHA:40
Schwartz-Jampel Syndrome
Trismus, Osteoporosis, Micrognathia, Abnormal rib morphology, Micromelia, Inguinal hernia, Protru... ORPHA:800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Broad long bones, Bowing of the legs, Recurrent pneumonia, Short ribs, ... OMIM:271665
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Micropenis, Cryptorchidism, Azoospermia, Hypoplasia of... OMIM:614837
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Osteoporosis, Decreased skull ossifica... ORPHA:666
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Thoracic kyphosis, Pectus excavatum, Arachnodactyly, Retrognathia, Syndactyly OMIM:619092
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Schaaf-Yang Syndrome
Brachydactyly, Clinodactyly, Flexion contracture, Rocker bottom foot, Sleep apnea, Tapered finger... OMIM:615547
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Coxa valga, 2-3 toe syndactyly, Intrauterine growth retardation, Rhizomelia, Broad femoral neck, ... OMIM:617164
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia, Retrognathia OMIM:617194
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Acromicric Dysplasia
Short palm, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Fifth metacarpal wi... OMIM:102370
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Anemia, Renal... OMIM:613092
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Multiple prenatal fractures, Respiratory failure, Arthrogryposis multiplex c... OMIM:616867
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Umbilical hernia, Joint hyperflexibility, Hernia ORPHA:75497
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Flexion contracture, Airway obstruction, Delayed eruption of teeth, Asthma, ... OMIM:309900
Sandestig-Stefanova Syndrome
Clinodactyly, Intrauterine growth retardation, Rocker bottom foot, Respiratory failure, Retrognat... OMIM:618804
Endove Syndrome, Limb-Brain Type
Toe syndactyly, Talar aplasia, Aplasia of the 3rd finger, Joint laxity, Triangular tibia, Osteomy... OMIM:619218
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Osteoporosis, Short 1st metac... OMIM:251450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Stage 5 chronic kidney disease, Osteopenia, Nephrocalcinosis, Enlarged kidney,... ORPHA:79259
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly, Arthritis ORPHA:42642
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Pelger-Huet Anomaly
Short 5th metacarpal, Short 4th metacarpal, Upper limb undergrowth, Polydactyly, Umbilical hernia... OMIM:169400
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Osteopenia, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Calv... OMIM:612714
Stuve-Wiedemann Syndrome 1
Osteoporosis, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefaction, Thick... OMIM:601559
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Scarring, Coxa valga, Osteopenia, Joint stiffness, Hernia, Osteoporosis, Micrognat... ORPHA:1901
Gaucher Disease Type 2
Flexion contracture, Splenomegaly, Hepatomegaly ORPHA:77260
Mosaic Variegated Aneuploidy Syndrome 1
Malar flattening, Intrauterine growth retardation, Micrognathia, Short sternum OMIM:257300
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Emphysema, Hip dislocation, Congenital diaphragmatic hernia OMIM:614100
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Respiratory failure, Ara... OMIM:310400
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Intrauterine growth retardation, Respiratory failure, Neonatal death, Death in childhood, Neonata... OMIM:245400
Farber Lipogranulomatosis
Limitation of knee mobility, Lipogranulomatosis, Osteolysis involving bones of the feet, Splenome... OMIM:228000
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Wide anterior fontanel, Umbilical hernia OMIM:275100
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Joint stiffness, Dense calvaria, Inguinal hernia, U... OMIM:252900
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Halperin-Birk Syndrome
Flexion contracture, Intrauterine growth retardation, Aspiration, Micrognathia, Congenital diaphr... OMIM:618651
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly, Joint contracture of the hand OMIM:601016
Geleophysic Dysplasia 3
Brachydactyly, Pneumonia, Sleep apnea, Respiratory failure, Dyspnea, Limb undergrowth, Short foot...