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Gene: Pth1r MGI:97801

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Gene Summary

Name:
parathyroid hormone 1 receptor
Synonyms:
PPR,  PTH1R,  Pthr1,  PTH/PTHrP receptor,  PTH-related peptide receptor

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Pth1rtm1a(EUCOMM)Hmgu HET Early adult 9.81×10-05
decreased bone mineral content Pth1rtm1a(EUCOMM)Hmgu HET Early adult 1.84×10-06
decreased lean body mass Pth1rtm1a(EUCOMM)Hmgu HET Early adult 2.21×10-05
preweaning lethality, complete penetrance Pth1rtm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased grip strength Pth1rtm1a(EUCOMM)Hmgu HET   Early adult 2.92×10-05

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Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Pth1rtm1a(EUCOMM)Hmgu
HET, Male, WTSI
Pth1rtm1a(EUCOMM)Hmgu
HET, Male, WTSI
Pth1rtm1a(EUCOMM)Hmgu
HET, Male, WTSI
Pth1rtm1a(EUCOMM)Hmgu
HET, Male, WTSI
Pth1rtm1a(EUCOMM)Hmgu
HET, Male, WTSI

View all 94 images

Pth1rtm1a(EUCOMM)Hmgu
HOM, Female, WTSI
Pth1rtm1a(EUCOMM)Hmgu
HOM, Male, WTSI
Pth1rtm1a(EUCOMM)Hmgu
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Pth1r 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 predicted to be associated to Pth1r by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:203330
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperparathyroidism 4
Primary hyperparathyroidism, Osteopenia, Hypercalcemia, Parathyroid carcinoma OMIM:617343
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Delayed cranial s... ORPHA:1832
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Micromelia, Disproportionat... OMIM:200600
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Primary hy... ORPHA:99879
Pseudohypoparathyroidism Type 2
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... ORPHA:94090
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Malar flattening, Cleft pa... OMIM:256050
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Short nose, Abnormal epiphysis morphology, Pulmonary hypoplasia, Rhizomel... ORPHA:50945
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Disproport... OMIM:156530
Raine Syndrome
High palate, Wide mouth, Cleft palate, Depressed nasal bridge, Micromelia, Microdontia, Short nos... OMIM:259775
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... ORPHA:2302
Marshall-Smith Syndrome
Gingival overgrowth, Craniosynostosis, Reduced bone mineral density, Retrognathia, Open mouth, Sl... ORPHA:561
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Osteopenia, Hyperphosphatemia, Hypercalcemia, Cal... OMIM:617994
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Hip contracture, Sclerosis of skull base, Severe short stature, Hyperextensibili... OMIM:313420
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Drumstick terminal phalanges, Alveolar ridge overgrowth, Cleft palate, Retrognathia, Thin vermili... OMIM:612938
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Abnormality of the d... ORPHA:217340
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Malabsorption, Chronic bronchitis, Short stature, Malar flattening, Depressed nasal br... OMIM:242860
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hyper... OMIM:612089
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:603233
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Short no... OMIM:200990
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... OMIM:146200
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Narrow mouth, Clinodactyly of the 5th finger, Short stature, Red... ORPHA:2370
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Parathyroid agene... ORPHA:2239
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... OMIM:614326
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Short stature, Ankle clonus, Hypoplasia of the capital femoral epiphysis, Joint laxity, Tongue fa... OMIM:600561
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Calcification of cartilage, Bronchitis, Atelectasis, Recurre... ORPHA:3348
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Mental Retardation, X-Linked 91
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Cubitus valgus, Clinodactyly,... OMIM:300577
Odontochondrodysplasia
Respiratory distress, Dentinogenesis imperfecta, Short stature, Retrognathia, Depressed nasal bri... ORPHA:166272
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Short stature, Micrognathia, Camptodactyly of finger, Short nose, Recurrent pneumon... ORPHA:1495
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Talipes equinovarus, Hand clenching, Retrognathia, Micrognathia, Neonatal death, Res... OMIM:611890
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Gingival overgrowth, Low hanging columella, Short stature, Retrognathia, Osteopenia, ... OMIM:212066
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... OMIM:251450
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin vermilion border, Camptodactyly of... ORPHA:2631
Pallister-Hall-Like Syndrome
Cleft palate, Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Postaxial hand polyda... OMIM:241800
Developmental And Epileptic Encephalopathy 80
Short distal phalanx of finger, High palate, Wide mouth, Talipes equinovarus, Micrognathia, Long ... OMIM:618580
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress... OMIM:261800
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory dis... OMIM:615294
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Tongue fasciculations, Respiratory failure, Recurr... OMIM:253300
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Down Syndrome
Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, Narrow palate, Depressed nasal ridge,... ORPHA:870
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Micromelia, Delayed eru... OMIM:184260
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Wide anterior fontanel, Widely patent fontanelles and sutures, Talipes equinovarus, ... OMIM:214100
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Adducted thumb, Short stature, Retrognathia, Micrognathia, Overlapping fingers, Res... OMIM:608779
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Cartilage destruction, Joint dislocation, Short stature ORPHA:2380
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Neonatal short-limb short stature, Hypoplasia of the radius, Short tibia, Pseudoarthrosis, Mesome... OMIM:156230
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Talipes equinovarus, Hand clenching, Flexion contracture, Micrognathia, Overlapping fingers, Cong... OMIM:618291
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteo... ORPHA:1423
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Disproportionate short-limb short statu... ORPHA:2502
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Intrauterine growth retardation, Neonatal death OMIM:301021
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Chronic bronchitis, Retrognathia, Depressed nasal bridge, Short nose, Pneumonia, Ant... OMIM:614069
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Transient pulmonary infiltrates,... ORPHA:70588
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of a... OMIM:616809
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Bulbous nose, Severe short st... ORPHA:969
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Short... OMIM:601561
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Talipes equinovarus, Malar flattening... OMIM:610253
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... ORPHA:79126
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Short stature, Osteoarthritis, Abnormality of the epiphyses ... ORPHA:166002
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Narrow mouth, Cleft palate, Short stature, Coronal craniosynostosis, Micrognathia, Bra... OMIM:614078
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... OMIM:611702
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia ORPHA:2668
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Dental crowding, Talipes equinovarus, Macroglossia, Short stature, Retrognathia, Dep... OMIM:141750
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress ORPHA:718
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Everted lower lip vermilion, Depressed nasal bridge, Abnormal thumb morphology, Con... ORPHA:324410
Diastrophic Dysplasia
Cleft palate, Depressed nasal bridge, Micromelia, Symphalangism affecting the phalanges of the ha... ORPHA:628
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Short stature, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion ORPHA:2015
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Short philtrum, Syndactyly, Camptodactyly, Broad... OMIM:300963
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Ring Chromosome 22 Syndrome
Bulbous nose, 2-3 toe syndactyly, Large hands, Protruding tongue, Pleural effusion, Thick vermili... ORPHA:1446
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Irregular acetabular roof, Genu valg... OMIM:156500
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Craniosynostosis, Osteopenia, Adrenal hypo... OMIM:614732
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... OMIM:610978
Hypochondroplasia
Childhood onset short-limb short stature, Aplasia/hypoplasia of the extremities, Malar flattening... OMIM:146000
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Short statur... ORPHA:1388
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... OMIM:616726
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Depressed nasal bridge, Tapered finger, Short nose, Umbilical hernia, Mandibular prognathia, Wide... OMIM:301040
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short ribs, Metaphyseal widening, Death in childhood, Depressed nasal bridge, Brachydactyly, Limb... OMIM:618961
Hyperekplexia 4
High palate, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal arth... OMIM:618011
Short-Rib Thoracic Dysplasia 12
Anencephaly, Lobulated tongue, Median cleft lip and palate, Pulmonary hypoplasia, Intrauterine gr... OMIM:269860
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia, Long philtrum OMIM:218010
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Small hand, Cone-shap... OMIM:618618
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Depressed nasal bridge, Congeni... OMIM:304120
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder mor... ORPHA:1277
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Malar flattening, Craniosynostosis, Short stature, Micrognathia, Cleft palate... ORPHA:2145
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Narrow mouth, Talipes equinovarus, Malar flattening, M... OMIM:224410
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, High palate, Slender long bones with narrow di... ORPHA:536467
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... OMIM:208081
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb unde... OMIM:118651
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Open mouth, Mandibular prognathia, Smooth philtrum OMIM:618732
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Fontaine Progeroid Syndrome
Craniosynostosis, Depressed nasal bridge, Microdontia, Short nose, Pulmonary hypoplasia, Umbilica... OMIM:612289
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... OMIM:135100
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Short stature, Broad nasal tip, Protruding tongue, Join... OMIM:618106
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short nose, Hemiatrophy of upp... ORPHA:163649
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Intestinal malrotation, Neonatal respirato... ORPHA:244
Waardenburg Syndrome Type 3
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Synostosis of ca... ORPHA:896
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Hypercalcemia, Hyperpar... OMIM:145001
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, High palate, Talipes equinovarus, Cleft palate, Respiratory insufficiency, ... OMIM:614399
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Protruding tongue DECIPHER:52
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Incre... OMIM:601198
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Gingival overgrowth, Premature loss of teeth, Narrow palate, Long upper lip, Dep... ORPHA:99843
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Abnormal metaphysis morphology, Craniosynostosis, Short stature,... ORPHA:93329
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Depressed nasal ridge, Short stature, Micrognathia, Short philtrum, Metaphyseal cuppi... ORPHA:163966
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Micromelia, Spontaneous neonatal pneumothorax, Delayed closure of the anterior fontan... OMIM:225410
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Limited knee flexion/extension, Respiratory insufficiency, Limited elbow ... ORPHA:266
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Cleft palate, Micromelia, Pulmonary hypoplasia, Pterygium, Encephalocele, Short long... ORPHA:1865
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Abnormality of the ank... ORPHA:2496
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Bulbous nose, Severe short stature, Short metacarpal, Narrow m... OMIM:102370
Short Rib-Polydactyly Syndrome
Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones... ORPHA:1505
Achondrogenesis Type 2
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short stature, Hypo... ORPHA:93296
Icf Syndrome
Malabsorption, Macroglossia, Short stature, Depressed nasal bridge, Micrognathia, Protruding tong... ORPHA:2268
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Short stature, Long philtrum, Short nose, Protruding tongue, Recurrent pneum... OMIM:619179
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:615883
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Bile duct pro... OMIM:208540
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Abnormal ... ORPHA:2759
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Depressed nasal bridge,... ORPHA:261120
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Achondrogenesis Type 1B
Severe short stature, Talipes equinovarus, Micrognathia, Long philtrum, Micromelia, Short nose, S... ORPHA:93298
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Abnormal cartilage matrix, Tracheomalacia, Respiratory insufficiency, Neonatal... OMIM:245650
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Atrial septal defect, Hemangioma, Hydrops fetalis... ORPHA:90308
Langer Mesomelic Dysplasia
High palate, Disproportionate short-limb short stature, Severe short stature, Abnormal morphology... ORPHA:2632
Achondroplasia
Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Narrow greater sciatic n... ORPHA:15
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Internally rotated shoulders, Talipes equinovarus, Flexion contract... OMIM:617468
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Parenchymal consolidation, Wheezing, Atelectasis, Abnormal... ORPHA:2902
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Tracheomalacia, Depressed nasal bridge, Protruding tongue, Neona... OMIM:618797
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Achondrogenesis Type 1A
Recurrent fractures, Severe short stature, Micrognathia, Long philtrum, Micromelia, Short nose, S... ORPHA:93299
Hypophosphatemic Bone Disease
Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure, Wide nasal bridge OMIM:610127
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... OMIM:618363
Glutamine Deficiency, Congenital
Apnea, Flexion contracture, Thin vermilion border, Depressed nasal bridge, Wide nasal bridge, Neo... OMIM:610015
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Recurre... OMIM:300209
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Flared femo... ORPHA:1427
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Respiratory distress, High palate, Narrow mouth, Short sternum, Short metaca... OMIM:266910
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Adducted thumb, Flexion contracture, Micrognathia, H... ORPHA:75840
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Death in adolescence, Neonatal death, Camp... OMIM:619751
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Respiratory distress, Cone-shaped epiphyses of the phalanges of t... OMIM:617102
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Macroglossia, Open mouth, Respiratory insufficiency, Recurrent lower respira... ORPHA:258
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Disproportionate short-trunk s... OMIM:300106
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... ORPHA:1240
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress, G... OMIM:619057
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy... OMIM:215045
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Gingival overgrowth, Narrow mouth, Hypoplastic vertebral bodies, Thin bony corte... OMIM:230600
Fibrochondrogenesis 1
Cleft palate, Depressed nasal bridge, Short nose, Rhizomelia, Dumbbell-shaped long bone, Short lo... OMIM:228520
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Depre... OMIM:300863
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Central sleep apnea, Small hand, Broad nasal tip, Depressed nas... OMIM:619777
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Achondrogenesis
Severe short stature, Micrognathia, Long philtrum, Micromelia, Abnormality of bone mineral densit... ORPHA:932
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis ORPHA:2768
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Short stature, Micrognathia, Brachydactyly, Camptodactyly, Short nose,... OMIM:613604
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Cleft palate, Craniosynostosis, Osteopenia, Abnormality of th... ORPHA:2314
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Parathyroid adenoma, Hypermagnesemia OMIM:145980
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... ORPHA:950
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Triangular mouth, Short stature, Broad nasal tip, Micrognathia, Abnormality ... OMIM:618529
Hypophosphatasia
Recurrent fractures, Hypercalcemia, Craniosynostosis ORPHA:436
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Bulbous nose, Sleep apnea, Short stature, Depressed nasal bridge, Brachydac... OMIM:617809
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, High palate, Retrognathia, Neonatal death, Atelectasis, Death in infancy, J... OMIM:300219
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Disproportionate short-limb shor... OMIM:269250
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, D... ORPHA:1248
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Meckel Syndrome, Type 7
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Dental malocclusion, Short toe, High palate, Narrow mouth, Short ... ORPHA:1327
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Short stature, Everted lower lip vermilion, Depressed nasal brid... ORPHA:1695
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Brachydactyly, Limb undergrowth, Short nose, Short long bone ORPHA:221054
Sandestig-Stefanova Syndrome
High palate, Convex nasal ridge, Retrognathia, Prominent metopic ridge, Camptodactyly, Oral cleft... OMIM:618804
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Short stature, Micrognathia, Narrow nose, Brachydactyly, Micromel... OMIM:269870
Acromesomelic Dysplasia 2C
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... OMIM:201250
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ... OMIM:619736
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Joint stiffness, Abnormal morphology of ulna, Abnormality of the dent... ORPHA:1350
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Radio-Renal Syndrome
Respiratory distress, Convex nasal ridge, Chylothorax, Severe short stature, High, narrow palate,... ORPHA:3015
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Macroglossia, Depressed nasal bridge, Respirato... ORPHA:1914
Diastrophic Dysplasia
Hip contracture, Disproportionate short-limb short stature, Neonatal short-limb short stature, Ta... OMIM:222600
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... ORPHA:3104
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short nose, Pulmonary hypoplasia, Intrauterine growth retardation, Flex... OMIM:616897
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Short statur... ORPHA:93430
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Short philtrum, Upper limb undergro... ORPHA:439822
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Atelectasis... ORPHA:922
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Coarse metaphyseal trab... ORPHA:2635
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... ORPHA:1529
Chromosome 16P13.3 Duplication Syndrome
Short toe, Bulbous nose, Malar flattening, Short phalanx of finger, Tapered finger, Long fingers,... OMIM:613458
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Umbilical hernia, Prolonge... OMIM:301068
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Hypophosphatemia, Elevated circulating parathyroid hormone level, Primary hy... OMIM:239200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Wide mouth, Flexion contracture, Retrognathia, Camptodactyly of finger, Short philtrum, Death in ... ORPHA:1194
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Depresse... OMIM:617895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short stature, Short nose, ... ORPHA:1355
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, High palate, Wide anterior fontanel, Abnormality of the tongue, C... ORPHA:3098
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, 11 pairs of ribs, Short nos... OMIM:108720
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Severe short ... ORPHA:93316
Ruvalcaba Syndrome
Dental crowding, Narrow mouth, Clinodactyly of the 5th finger, Convex nasal ridge, Small hand, Th... ORPHA:3121
Kniest Dysplasia
Enlarged joints, Respiratory distress, Cleft palate, Depressed nasal bridge, Disproportionate sho... OMIM:156550
Pierpont Syndrome
Short toe, Prominent median palatal raphe, Prominent fingertip pads, Short stature, Malar flatten... OMIM:602342
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Severe short stature, Abnormal morphology of ulna... ORPHA:3344
Kaposi Sarcoma
Hemangioma, Lymphoproliferative disorder, Neoplasm of the skin, Abnormality of the spleen, Abnorm... ORPHA:33276
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets OMIM:193100
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypophosphatemia, Redu... ORPHA:157215
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Short stature, Short ribs, Depressed nasal bridge, Iliac crest serration, Mi... OMIM:613320
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, Short stature, High iliac wing, Metatars... ORPHA:85170
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Retrognathia, Respiratory insufficiency, Respiratory failure, Arthrogryposis multipl... OMIM:615330
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Syno... ORPHA:2741
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Pursed lips, Femoral bowing, Ulnar deviation of finger, Carious teeth, Sh... OMIM:601559
Metaphyseal Chondrodysplasia, Kaitila Type
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... OMIM:250230
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Talipes equinovarus, Malar flattening, Micrognathia, Long philtrum, Ca... OMIM:277720
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... ORPHA:2831
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delayed closure of the ... OMIM:311300
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bronchiolitis... ORPHA:254361
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Short nose, Sandal gap, Cleft upper lip, Talip... OMIM:206920
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Malar flattening, Short ribs, Hypoplastic ilia, Respiratory in... OMIM:600972
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxemia, Respi... ORPHA:70587
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short nose, Short co... OMIM:155050
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Abnormal pleura morphology, Cough, At... ORPHA:2357
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:616081
Farber Disease
Respiratory distress, Joint swelling, Short toe, Flexion contracture, Nodular pattern on pulmonar... ORPHA:333
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... OMIM:200700
Hypochondroplasia
Childhood onset short-limb short stature, Abnormality of femur morphology, Short toe, Sleep apnea... ORPHA:429
Autosomal Dominant Omodysplasia
Malar flattening, Short 1st metacarpal, Depressed nasal bridge, Short humerus, Micrognathia, Long... ORPHA:93328
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Degcags Syndrome
High palate, Wide mouth, Hiatus hernia, Craniosynostosis, Osteopenia, Pyloric stenosis, Genu valg... OMIM:619488
Ruvalcaba Syndrome
Short stature, Small hand, Narrow nose, Short phalanx of finger, Limited elbow extension, Microme... OMIM:180870
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Talipes equinovarus, Micrognathia, Overlapping fingers, Pul... OMIM:616531
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Malar flatten... OMIM:300244
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, S... ORPHA:46
Acrodysostosis 2 With Or Without Hormone Resistance
Malar flattening, Depressed nasal bridge, Cone-shaped epiphysis, Brachydactyly, Short phalanx of ... OMIM:614613
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Dyspnea, Cough, Decreased DLCO, Ground-glass opacificat... OMIM:619611
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Disproportionate short-limb short stature, Abnormal joint morphology, Limitation of jo... ORPHA:93351
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, High palate, Micrognathia, Short nose, Thin upper lip vermilion, Death in i... OMIM:615042
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Respiratory insufficiency, Respiratory failure, Hip dislocation, Abn... ORPHA:370968
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Microretrognathia, Talipes equi... OMIM:236500
Joubert Syndrome 1
Neonatal breathing dysregulation, Episodic tachypnea, Macroglossia, Central apnea, Postaxial hand... OMIM:213300
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Flexion contracture OMIM:615348
Edinburgh Malformation Syndrome
Joint stiffness, Narrow mouth, Slender finger, Thin vermilion border, Micrognathia, Respiratory i... ORPHA:1895
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Metaphyseal dysplasia, Joint dislocation, Depressed nasal ridge,... ORPHA:1842
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Depressed nasal brid... ORPHA:457395
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu ... ORPHA:56304
Aspergillosis
Ground-glass opacification, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Ost... ORPHA:1163
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Primary hyperparathyroidism, Osteomalacia, Hypercalcemia, Hypermagnesemia OMIM:600740
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Apical pulmonary opacity, Abnormal jejunum morp... ORPHA:449280
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Disproportionate short... OMIM:271530
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Abnormal palate morphology, Deviation of finger ORPHA:1450
Laron Syndrome
Severe short stature, Delayed menarche, Limb undergrowth, Abnormal joint morphology, Short long bone OMIM:262500
Opsismodysplasia
Joint stiffness, Hypoplastic vertebral bodies, Severe short stature, Abnormally ossified vertebra... ORPHA:2746
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Choleste... OMIM:600803
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Epiphyseal dysplasia, Bulbous nose, Short metacarpal, Flexion contracture, Short... OMIM:215150
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Hypercalcemia, Hypermagnesemia OMIM:145981
Rhizomelic Chondrodysplasia Punctata
Growth delay, Short stature, Abnormality of the dentition, Spina bifida occulta, Limb undergrowth... ORPHA:177
Infantile Myofibromatosis
Osteolysis, Limitation of joint mobility, Hypercalcemia ORPHA:2591
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Congenital Sialidosis Type 2
Gingival overgrowth, Polydactyly, Protruding tongue, Respiratory tract infection, Umbilical hernia ORPHA:93400
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates, Polyarticular arthritis OMIM:235900
Clark-Baraitser Syndrome
High palate, Wide mouth, Low hanging columella, Depressed nasal bridge, Short philtrum, Long phil... OMIM:617752
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, Increa... ORPHA:94089
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Micromelia, Severe short st... OMIM:250215
Chung-Jansen Syndrome
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Tapered finger, ... OMIM:617991
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... ORPHA:2639
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Osteopenia, Pathologic fracture, Hypercalc... OMIM:156400
Cleidocranial Dysplasia
Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Down-sloping shoulders, Delay... ORPHA:1452
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Intrauterine growth retardation, Flexion contracture of finger, Flexion contract... ORPHA:254528
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Fractures of the long bones, Osteolysis, Increased susceptibility to fra... OMIM:602080
Auriculocondylar Syndrome 2
Dental malocclusion, Apnea, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micr... OMIM:614669
Hall-Riggs Syndrome
Abnormal dental enamel morphology, Joint stiffness, Wide mouth, Short stature, Brachydactyly, Del... ORPHA:2107
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Malar flattening, Craniosynostosis, Thin vermilion border, Depressed nasal bridge, Micrognathia, ... ORPHA:171839
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notc... OMIM:602557
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Hypoplasia of the maxilla, Mand... OMIM:105830
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Everted lower lip vermilion, Downturned corners of mouth, Short nose, Protruding to... ORPHA:96147
Hydrocephalus With Associated Malformations
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Pulmonary hypoplasia, Low... OMIM:236640
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Short metacarpal, Depressed nasal bridge, Small epiphyses, Short long bone, Thick low... OMIM:611717
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Triangular mouth, Cleft palate, Depressed nasal bridge, Abnormality of the dentition,... OMIM:616331
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Disproportionate short-limb short stature, Metaphyseal cupping, M... ORPHA:85166
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Joint dislocation, Hypodontia, High, narrow palate, Sh... ORPHA:3201
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Respiratory fail... OMIM:245400
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Absent glenoid fossa, Clinodactyly of the 3rd finger, ... ORPHA:96334
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Short philtrum, Brachydactyly, Wormian bones, Downturned corners... OMIM:601224
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Wide mouth ORPHA:98795
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Rhizomelia, Short long bone, Metaphyseal irre... OMIM:250220
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Diaphanospondylodysostosis
Respiratory distress, Talipes equinovarus, Depressed nasal ridge, Tracheomalacia, Cleft palate, D... OMIM:608022
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Limitation of movement at ankles, Widely spaced teeth, Protruding tongue, Mandibular ... ORPHA:98794
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Joint contracture of the hand, Depressed nasal ridge, Cleft palate, Overlapping ... OMIM:601016
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Bowing of the legs, Disproportionate short-limb short stature, Short stature, Li... ORPHA:156728
Thanatophoric Dysplasia
Intrauterine growth retardation, Disproportionate short-limb short stature, Joint stiffness, Depr... ORPHA:2655
Pneumocystosis
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... ORPHA:723
Acromesomelic Dysplasia, Grebe Type
Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of the middle phalange... ORPHA:2098
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the radius, Retrognathia, Micrognathia, Short 5th finger, Neonatal de... OMIM:227270
Arthrogryposis Multiplex Congenita 6
Adducted thumb, Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex co... OMIM:619334
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Short stature, Abnormality of limb bone morphology, Limb undergro... ORPHA:2204
Greenberg Dysplasia
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ... OMIM:215140
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Malar flattening, Craniosynostosis, Short stature, Femoral bowing, Depressed nas... OMIM:616723
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Ulnar deviation of the hand, Convex nasal ridge, Narrow greater sciatic n... OMIM:263210
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Dental crowding, Short toe, Clinodactyly of the 5th finger, Short stature, Everted l... OMIM:617877
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Hypercalcemia ORPHA:94080
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Malar flattening, ... OMIM:602613
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radia... ORPHA:1972
Codas Syndrome
Short stature, Depressed nasal bridge, Congenital hip dislocation, Brachydactyly, Joint hyperflex... ORPHA:1458
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short nose, Rocker bottom foot, Mandibul... OMIM:193700
Dysostosis, Stanescu Type
Abnormality of the dentition, Micromelia, Carious teeth, Abnormal epiphysis morphology, Hypoplasi... ORPHA:1798
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Disproport... OMIM:127300
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Short stature, Arachnodactyly, Long fingers, Postnatal growth retarda... OMIM:619489
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Wide mouth, Slender finger, Depressed nasal bridge, Tapered finger, Genu valgum, Ten... OMIM:309580
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia, Diabetes mellitus OMIM:612526
Fatty Acyl-Coa Reductase 1 Deficiency
Short stature, Depressed nasal bridge, Long philtrum, Short nose, Growth delay, Thin upper lip ve... ORPHA:438178
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Jeune Syndrome
Short stature, Cone-shaped epiphysis, Respiratory insufficiency, Brachydactyly, Micromelia, Posta... ORPHA:474
Hypophosphatasia, Infantile
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Increased susc... OMIM:241500
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany... OMIM:612462
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Neonatal respiratory distress, Split hand, Respiratory failure, Wide ... ORPHA:168486
Osteoglophonic Dysplasia
Respiratory distress, High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short... OMIM:166250
Saul-Wilson Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... OMIM:618150
Proteus Syndrome
Lymphangioma, Lipoma, Splenomegaly, Hemangioma, Multiple lipomas, Limbal dermoid, Venous malforma... OMIM:176920
Thoracomelic Dysplasia
Disproportionate short-limb short stature, Short ribs, Abnormality of fibula morphology, Limb und... ORPHA:1803
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Wide mouth ORPHA:411511
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Convex nasal ridge, Talipes equinovarus, Cleft palate, Cranios... OMIM:251230
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bulbous nose, Cleft palate, Abnormally ossified vertebrae, Long nose, Osteopenia, Abnormality of ... ORPHA:2636
Greenberg Dysplasia
Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calcifications, Abn... ORPHA:1426
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Intestinal malrotation, Brachydactyly, Wide nasal bridge, Long philtrum, ... ORPHA:401935
Kyphomelic Dysplasia
Joint stiffness, Micrognathia, Micromelia, Large hands, Missing ribs, Bowing of the long bones, A... ORPHA:1801
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Long philtrum, Abnormality of vertebral epiphysis morphology, Short... ORPHA:90653
Desbuquois Dysplasia 2
Cleft palate, Depressed nasal bridge, Cutaneous syndactyly, Monkey wrench femoral neck, Radial he... OMIM:615777
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Depr... OMIM:268310
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short metacarpal OMIM:611263
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure, Flexion contracture OMIM:613869
Ollier Disease
Joint stiffness, Micromelia, Abnormal cartilage morphology, Osteolysis, Abnormal metaphysis morph... ORPHA:296
Mohr Syndrome
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated tongue, Tongue nodu... OMIM:252100
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Hypocalcemic tetany,... ORPHA:36913
Lethal Kniest-Like Dysplasia
Severe short-limb dwarfism, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinov... ORPHA:2347
Down Syndrome
Anal atresia, Duodenal stenosis, Aganglionic megacolon, Malar flattening, Short stature, Macroglo... OMIM:190685
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Short philtrum, Down-sloping shoulders, Short nose, Proportionate short stature, ... ORPHA:391408
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hy... ORPHA:405
Orofaciodigital Syndrome Type 4
Abnormality of the tongue, Depressed nasal ridge, Cleft palate, Short philtrum, Micromelia, Oral ... ORPHA:2753
Distal Trisomy 18Q
High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finge... ORPHA:1716
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Cleft palate, Short femur, Short... ORPHA:1988
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Wide mouth, High, narrow palate, Abnormal lip morphology, Arachnodactyly, R... ORPHA:2707
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Flexion contracture, Short stature, Retrognathia, Osteopenia, Respiratory insufficie... OMIM:618005
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Wid... OMIM:600081
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Micrognathia, Long philtrum, Ulnar deviation of the wrist, Short nose, Cl... OMIM:618577
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy, Epiphyseal stippling OMIM:614876
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:608647
Mulibrey Nanism
Dental crowding, Dental malocclusion, Hypodontia, Short stature, Depressed nasal bridge, Recurren... OMIM:253250
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pleural empyema, Acu... ORPHA:36238
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short stature, Long philtrum, Postaxial hand polydactyly, Short nose, Abnormal... ORPHA:1389
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Clinodactyly of the 5th finger, Congenital hip dislocation, Wide nose,... ORPHA:217385
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, Cleft palate, Osteopenia, Abnormality of the dentition, Short philtr... ORPHA:251028
Distal Monosomy 17Q
Narrow mouth, Abnormal hip bone morphology, Small hand, Short stature, Prominent metopic ridge, R... ORPHA:1597
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa vara, Joint stiffness, Joint dislocation, Severe short stature, Hiatus hernia, Retrognathia,... ORPHA:1901
Tetrasomy 5P
Respiratory distress, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Hi... ORPHA:3309
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture... OMIM:113000
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Genu valgum, A... ORPHA:534
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Chronic rhinitis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Ciliary ... OMIM:244400
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Cleft palate, Depressed nasal bridge, Disproporti... ORPHA:485
Rhiny
Anteverted nares, Short nose, Thin vermilion border OMIM:180360
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Short nose, Thick nasal alae, Hypoplas... ORPHA:79345
Weismann-Netter Syndrome
Severe short stature, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared ili... OMIM:112350
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
High palate, Broad phalanx, Depressed nasal bridge, Micromelia, C1-C2 subluxation, Short nose, Hi... OMIM:271665
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia ORPHA:2238
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Disproportionate short-trunk short stature,... ORPHA:93284
C Syndrome
High palate, Wide mouth, Micromelia, Ulnar deviation of finger, Short nose, Micrognathia, Postaxi... OMIM:211750
Ohdo Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Short stature, Thin vermilion border, Depressed nas... OMIM:249620
Glycine Encephalopathy With Normal Serum Glycine
Overlapping toe, Hip contracture, Apnea, Genu recurvatum, Hand clenching, Flexion contracture, Ta... OMIM:617301
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Wide mouth, Wide anterior fontanel, Depressed nasal bridge, Long ... OMIM:616638
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... ORPHA:99931
Fibrous Dysplasia Of Bone
Abnormality of the endocrine system, Precocious puberty in females, Thyroid carcinoma, Elevated c... ORPHA:249
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypocalcemic tetany, Calvarial osteosclerosis, Decre... ORPHA:93324
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Flexion contracture, Tapered finger, Long fingers, Short nose, H... OMIM:218000
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Wide nasal br... OMIM:616430
Sponastrime Dysplasia
Depressed nasal bridge, Microdontia, Hypoplasia of the nasal bone, Genu valgum, Short nose, Hip s... ORPHA:93357
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... OMIM:249700
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Bulbous nose, Cleft palate, Abnormality of canine, Short nose, Tented upper lip vermilion, Intrau... ORPHA:364577
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany... OMIM:103580
Otopalatodigital Syndrome Type 2
Cleft palate, Depressed nasal bridge, Short nose, Pulmonary hypoplasia, Bowing of the long bones,... ORPHA:90652
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Secondary hyperparathyroidism, Abnormality of the parathyroid gland, Abnormal circulating calcium... ORPHA:140286
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Apnea, Asthma, Hypoxemia, Cleft palate, Micrognathia, Tachypnea,... ORPHA:2257
Developmental And Epileptic Encephalopathy 73
Short nose, Hip dysplasia, Flexion contracture, Narrow nasal bridge OMIM:618379
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Robinow Syndrome, Autosomal Dominant 1
High palate, Dental crowding, Triangular mouth, Depressed nasal bridge, Duplication of the distal... OMIM:180700
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Apnea, Respiratory failure, Death in infancy OMIM:617248
Fanconi Renotubular Syndrome 2
Osteopenia, Hypophosphatemia, Rickets OMIM:613388
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent fingertip pads, Flexion contracture, Retrognathia, Broad nasal tip, Recurrent upper res... ORPHA:391372
Burn-Mckeown Syndrome
Short stature, Bilateral choanal atresia, Short nose, Abnormal palate morphology, Prominent nasal... ORPHA:1200
Bilateral Perisylvian Polymicrogyria
Apnea, Flexion contracture, Micrognathia, Distal arthrogryposis, Choanal atresia, Protruding tong... ORPHA:98889
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth OMIM:613670
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Short stature, Reduced bone mineral density, Spina bifida occulta, Slender long ... ORPHA:1185
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cleft palate, Craniosynostosis, Abnormal epiphysis morphology, Hypoplasia o... ORPHA:2554
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal palate morphology, Short stature, Thin vermilion border, Brachydactyly, Abnormality of t... ORPHA:2701
Craniodigital-Intellectual Disability Syndrome
Short stature, Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Finger syndac...