Gene Summary

transcriptional repressor GATA binding 1
D15Ertd586e,  trichorhinophalangeal syndrome I (human)

IMPC Data Collections

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
decreased fasting circulating glucose level Trps1em1(IMPC)Wtsi HET Early adult 1.57×10-05
preweaning lethality, complete penetrance Trps1em1(IMPC)Wtsi HOM   Early adult 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.

Legacy Phenotype Associated Images

Human diseases caused by Trps1 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 Trps1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Trps1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 3
Sparse scalp hair OMIM:613981
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Ichthyosis--Cheek--Eyebrow Syndrome
Sparse lateral eyebrow, Kyphoscoliosis, High palate OMIM:146720
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... ORPHA:1808
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Intellectual Developmental Disorder, X-Linked 19
Thick lower lip vermilion, Kyphoscoliosis, Everted lower lip vermilion, Scoliosis, Dental crowding OMIM:300844
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Lumbar hypertrichosis, Thoracic hypertrichosis, Kyphoscoliosis, Anterior cervical hypertrichosis,... OMIM:117850
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis, Joint laxity OMIM:236660
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness OMIM:616583
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Sparse scalp hair, Dystrophic fingernails OMIM:614927
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory insufficiency, Arthrogryposis multiplex congenita, Narrow ches... OMIM:208081
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Flynn-Aird Syndrome
Increased bone density with cystic changes, Carious teeth, Alopecia of scalp, Kyphoscoliosis, Ost... OMIM:136300
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Osteopenia, Respiratory distress, Narrow chest OMIM:618188
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Thin ribs, Pulmonary ... OMIM:259420
Nemaline Myopathy 9
Micrognathia, Respiratory insufficiency, Arthrogryposis multiplex congenita, Narrow chest, Scoliosis OMIM:615731
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Generalized hypotrichosis OMIM:207780
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Thin ribs, Respiratory insufficiency, Limb undergrowth, Platyspondyly, Multi... OMIM:166210
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre... OMIM:615220
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Irregular vertebral endpla... OMIM:271630
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Thin ribs, Neonatal death, Joint hypermobility, Respiratory distress, Retrognat... OMIM:300219
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Osteogenesis Imperfecta, Type X
Micrognathia, Thin ribs, Joint laxity, Chronic lung disease, Malar flattening, Platyspondyly, Gen... OMIM:613848
Odontochondrodysplasia 1
Genu varum, Death in infancy, Delayed eruption of teeth, Recurrent respiratory infections, Short ... OMIM:184260
Kagami-Ogata Syndrome
Long clavicles, Micrognathia, Thin ribs, Limb undergrowth, Kyphoscoliosis, Pulmonary arterial hyp... OMIM:608149
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Renal hypoplasia, Micrognathia, Thin ribs, Phocomelia, Pneumothorax, Aplasia of ... OMIM:266910
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Short ribs, Delayed eruption of teeth, Absent frontal sinuses, Progressive bowing of long bones, ... OMIM:224300
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Metatropic Dysplasia
Respiratory insufficiency, Long coccyx, Short finger, Short ribs, Platyspondyly, Kyphosis, Relati... OMIM:156530
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, High palate, Hip contracture, Coronal cleft vertebrae, Irregular ver... OMIM:618363
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Limb undergrowth, Short ribs, Narrow chest, Severe platyspondyly, Disc-like vertebral ... OMIM:151210
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Synophrys, Thick eyebrow, Abnormal rib morphology, Scoliosis, Radioulnar synost... ORPHA:3268
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, F... OMIM:312150
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Micrognathia, Thin bony cortex, Thin ribs, Joint laxity, Long eyelash... OMIM:617952
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Pectus carinatum, Short finger, Hip contracture, Platyspondyly, Knee f... OMIM:313420
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Thin ribs, Increased susceptibility to fractures, Asymmetry of the thorax, Hyperos... OMIM:604922
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, F... OMIM:253290
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs, Retrognathia, Respiratory insufficiency ORPHA:456328
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Acro-Renal-Mandibular Syndrome
Micrognathia, Butterfly vertebrae, Rudimentary fibula, Thin ribs, Hypoplastic scapulae, Pectus ca... ORPHA:958
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Bilateral renal hypoplasia, Renal tubular atrophy, Micrognathia, Abnormal nephron morphology, Abn... ORPHA:2260
Orofaciodigital Syndrome Xi
Cleft palate, Kyphoscoliosis, Hypoplasia of the odontoid process OMIM:612913
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Atlantoaxial... OMIM:600561
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Rhizomelia, Platyspondyly, Distal shortening of limbs, 11 pairs of ribs, Decreased sku... OMIM:300863
3M Syndrome
Horizontal ribs, Thin ribs, Short thorax, Abnormal dental enamel morphology, Delayed eruption of ... ORPHA:2616
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Irregular vertebral endplates, Platyspondyly, Hypoplasia of the ulna, Short neck, Shor... OMIM:618395
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Recurrent aspiration pneumonia, Thin ribs, Generalized bone demineralization, Hyper... ORPHA:73230
Severe Congenital Nemaline Myopathy
Thin ribs, Multiple prenatal fractures, Abnormal thorax morphology, Arthrogryposis multiplex cong... ORPHA:171430
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Kyphosis, Mesomelic/rhizomelic limb shor... ORPHA:1354
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Arthrogryposis multiplex congenita OMIM:212540
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs, Platyspondyly, Kyphosis, Osteopenia, Dentinogenesis imperfecta, Coro... OMIM:616294
Lethal Congenital Contracture Syndrome 5
Death in infancy, Thin ribs, Respiratory insufficiency, Flexion contracture, Congenital contracture OMIM:615368
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Thin ribs, Low anterior hairline, Short finger, Malar flattening, Platyspon... OMIM:300232
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Stuve-Wiedemann Syndrome 1
Micrognathia, Thin ribs, Respiratory insufficiency, Elbow flexion contracture, Flexion contractur... OMIM:601559
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lungs, Abnormal f... ORPHA:2635
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Pectus excavatum, Respiratory insufficiency, Respiratory failure, Respiratory distress, Camptodac... OMIM:614399
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Micrognathia, Craniosynostosis, Thin ribs OMIM:618265
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Micrognathia, Premature sternal synostosis OMIM:184800
Jeune Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Cone-shaped epiphysis... ORPHA:474
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Mandibular prognathia, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Fibrochondrogenesis 1
Thin clavicles, Long clavicles, Thoracic hypoplasia, Anterior rib cupping, Thin ribs, Hypoplastic... OMIM:228520
Diastrophic Dysplasia
Costal cartilage calcification, Cleft palate, Hip contracture, Kyphoscoliosis, Cervical kyphosis,... OMIM:222600
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Micrognathia, Temporomandibular joint ankylosis, Upper airway obst... ORPHA:141152
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Ullrich Congenital Muscular Dystrophy 2
Joint hypermobility, Kyphoscoliosis, High palate, Flexion contracture OMIM:616470
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Carious teeth, Cortical thickening of long bone diaphyses, Thin ribs, Small hand,... ORPHA:93324
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Three M Syndrome 2
Thin ribs, Pectus carinatum, Short thorax, Malar flattening, Delayed eruption of teeth, Short 5th... OMIM:612921
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Death in infancy, Thin ribs, Rhizomelia, Platyspondyly, Short foot, Short palm ORPHA:163966
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, High palate, Long philtrum, Kyphoscoliosis, Microglossia, Whistling... OMIM:277720
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Short neck, Vertebral clefting, Rib fusion, Restrictive ventilatory defect, Recurr... OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Leukodystrophy, Hypomyelinating, 17
Widely spaced teeth, Hirsutism, Kyphoscoliosis, Gingival overgrowth, Flexion contracture OMIM:618006
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Tongue atrophy, Knee flexion contracture ORPHA:496689
Stillbirth OMIM:265880
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... OMIM:610921
Hyperekplexia 4
Distal arthrogryposis, High palate, Kyphoscoliosis, Flexion contracture, Camptodactyly OMIM:618011
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Hypodontia, Kyphoscoliosis, Alopecia, Flexion contracture OMIM:612079
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Hirsutism, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... OMIM:257960
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
High, narrow palate, Kyphoscoliosis, Atlantoaxial abnormality, Hypermobility of interphalangeal j... ORPHA:3433
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Brach... OMIM:186500
Marshall-Smith Syndrome
Pectus excavatum, Recurrent aspiration pneumonia, Obstructive sleep apnea, Large sternal ossifica... OMIM:602535
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Nestor-Guillermo Progeria Syndrome
Sparse eyelashes, Pathologic fracture, Mandibular osteolysis, Sparse and thin eyebrow, Limited el... OMIM:614008
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Micrognathia, Pectus excavatum, Rocker bottom foot, Postaxial p... ORPHA:2886
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Respiratory insufficiency due to muscle weakness, Arthrogryposis multiplex congenit... OMIM:618291
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Abnormal thorax morphology, Respiratory tract infection, Pulmona... ORPHA:70587
Campomelic Dysplasia
Thoracic hypoplasia, Shortening of all phalanges of the toes, Micrognathia, Thin ribs, Hypoplasti... OMIM:114290
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Kyphoscoliosis, Osteoporosis, Long eyelashes, Platyspondyly, Thin vermilion border... OMIM:614856
Kenny-Caffey Syndrome, Type 1
Thin clavicles, Long clavicles, Carious teeth, Thin ribs, Small hand, Calvarial osteosclerosis, D... OMIM:244460
Scarf Syndrome
Hypoplastic nipples, Hypocalcification of dental enamel, Pectus carinatum, Craniosynostosis, Shor... ORPHA:3134
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Kyphoscoliosis OMIM:616668
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Respiratory insufficiency due to muscle weakness, Neonatal death, Arthrogryposis mu... OMIM:611890
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Split hand, Radial deviation of finger, Decreased numbers of nephrons, Renal in... OMIM:201310
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Flexion contracture OMIM:617977
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Micrognathia, Pectus excavatum, Postaxial polydactyly, Hypoplas... OMIM:311900
Osteogenesis Imperfecta, Type Xi
Biconcave vertebral bodies, Vertebral wedging, Increased susceptibility to fractures, Kyphoscolio... OMIM:610968
Nemaline Myopathy 4
Kyphoscoliosis, High palate, Flexion contracture OMIM:609285
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... OMIM:610978
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Hyperglycemia, Hyperinsulinemia OMIM:616214
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Cerebrooculofacioskeletal Syndrome 1
Hirsutism, Long philtrum, Kyphoscoliosis, Osteoporosis, Thin vermilion border, Joint contracture ... OMIM:214150
Myasthenic Syndrome, Congenital, 19
Micrognathia, Respiratory insufficiency, Pectus carinatum, Recurrent lower respiratory tract infe... OMIM:616720
Cornelia De Lange Syndrome 1
Hypospadias, 2-3 toe syndactyly, Hypoplastic nipples, Hirsutism, Phocomelia, Curly eyelashes, Pro... OMIM:122470
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Bronchiolitis, Respiratory distress, Recurrent respi... OMIM:615993
Maternal Uniparental Disomy Of Chromosome 9
Elbow ankylosis, Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck ORPHA:96183
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ribs, Short ribs, Supernumer... OMIM:271520
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Mandibular aplasia, Short neck, Respiratory distress, Retrognathia, Respiratory fai... ORPHA:1832
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Respiratory distress, Recurre... ORPHA:2759
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Proteus Syndrome
Mandibular hyperostosis, Spinal canal stenosis, Thin bony cortex, Kyphoscoliosis, Open mouth, Cal... OMIM:176920
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Tubulointerstitial fibrosis, Cough, Respiratory... OMIM:263000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... OMIM:613102
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Abnormal form of the vertebral bodies,... ORPHA:1801
Hallermann-Streiff Syndrome
Sparse eyelashes, Malar flattening, Sparse and thin eyebrow, Recurrent respiratory infections, Sp... OMIM:234100
Scarf Syndrome
Hypoplastic nipples, Pectus carinatum, Low anterior hairline, Low posterior hairline, Short stern... OMIM:312830
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Rhizomelic Chondrodysplasia Punctata, Type 1
Cleft palate, Coronal cleft vertebrae, Epiphyseal stippling, Kyphoscoliosis, Alopecia, Calcific s... OMIM:215100
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Platyspondyly, Anisospondyly, Vertebral... ORPHA:85198
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... OMIM:265120
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Cleft palate, High palate, Long upper lip, Abnormal vertebral morphology, Beaking of vertebral bo... ORPHA:93359
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... ORPHA:1433
Osteogenesis Imperfecta, Type Viii
Thin ribs, Platyspondyly, Multiple prenatal fractures, Kyphosis, Osteopenia, Type 1 collagen over... OMIM:610915
Ulbright-Hodes Syndrome
Phocomelia, Short ribs, Hypoplasia of the radius, Short humerus, Respiratory failure, Micrognathi... ORPHA:3404
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Respiratory insufficiency, Lateral clavicle hook, Postaxial polydactyly, Nephroc... OMIM:615633
Pachyonychia Congenita 4
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormal lumbar spine morphology, Increased bone mineral density, Premature ... ORPHA:93284
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... ORPHA:70588
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Back pain, Abnormal lumbar spine morphology, Abnormality of ... ORPHA:2357
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Kyphosis, Abnormal ossification involving the femoral head a... ORPHA:2114
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Narrow... ORPHA:66637
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Macroglossia, Kyphoscoliosis, Protruding tongue OMIM:227250
Shprintzen-Goldberg Craniosynostosis Syndrome
Pectus excavatum, Micrognathia, Lateral clavicle hook, Thin ribs, Pectus carinatum, Obstructive s... OMIM:182212
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Arthritis, Sh... OMIM:184100
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Posterior rib fusion, Short thorax, Missing ribs, Spina bifida occult... ORPHA:1797
Momo Syndrome
Abnormal bone ossification, Congenital pseudoarthrosis of the clavicle, Delayed eruption of teeth... ORPHA:2563
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Respiratory ... ORPHA:1423
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Kyphosis, Osteopenia, Short neck, Squared-off platyspo... OMIM:271530
Meier-Gorlin Syndrome 1
Short ribs, Joint contracture of the hand, Camptodactyly, Hypoplasia of the maxilla, Breast hypop... OMIM:224690
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Malar flattening, Abnormal bone structure, Multiple prenata... OMIM:215140
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Van Den Ende-Gupta Syndrome
Pectus excavatum, Stridor, Lateral clavicle hook, Thin ribs, Glenoid fossa hypoplasia, Malar flat... OMIM:600920
Acrorenal-Mandibular Syndrome
Micrognathia, Butterfly vertebrae, Thin ribs, Hypoplastic scapulae, Hemivertebrae, Kyphoscoliosis... OMIM:200980
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Schopf-Schulz-Passarge Syndrome
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... OMIM:224750
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Ankle flexion contracture, High, narrow palate, Sh... ORPHA:536516
Bullous Dystrophy, Hereditary Macular Type
Short finger, Tapered finger, Alopecia totalis, Acrocyanosis, Death in childhood OMIM:302000
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Limb undergrowth, Short ribs, Narrow chest, Respiratory failure, Thora... OMIM:273730
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, R... OMIM:256050
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Short ribs, Hypoplasia of the radius... OMIM:617895
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic nipples, Hypoplasia of first ribs, Thickened cortex of long bones, Malar... OMIM:269150
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... OMIM:609813
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Platyspo... OMIM:259440
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited elbow flexion, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced... ORPHA:266
Achondrogenesis Type 1B
Micrognathia, Aplasia/Hypoplasia of the lungs, Short thorax, Short foot, Narrow chest, Abnormal r... ORPHA:93298
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Metatarsal osteolysis, Metacarpal osteolysis, Osteolysis involving tarsal bones, Os... OMIM:166300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Hirsutism, Thin ribs, Malar flattening, Osteopenia, Joint hypermobility, Lumbar... ORPHA:2463
Ck Syndrome
High palate, Kyphoscoliosis, Joint hypermobility, Lumbar hyperlordosis, Dental crowding ORPHA:251383
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Bell-shaped thorax, Short long bo... OMIM:611702
You-Hoover-Fong Syndrome
Kyphoscoliosis OMIM:616954
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cleft palate, Long upper lip, Kyphoscoliosis, Platyspondyly, Carpal synostosis, Advanced ossifica... OMIM:615349
Warburg Micro Syndrome 1
Hypertrichosis, Kyphoscoliosis, Osteoporosis, Facial hypertrichosis, Thin vermilion border, Joint... OMIM:600118
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Kyphosis, ... ORPHA:40
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flaring of lower rib cage, Neonatal respiratory distress, Posterior wedging ... ORPHA:168549
Myopathy, Congenital, Bailey-Bloch
High palate, Cleft palate, Kyphoscoliosis, Downturned corners of mouth, Flexion contracture OMIM:255995
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Osteoporosis, Amelogenesis imperfecta, Joint laxity OMIM:614727
Respiratory insufficiency, Craniosynostosis, Narrow chest, Abnormal rib morphology, Recurrent fra... ORPHA:436
Short Stature, Brussels Type
Horseshoe kidney, Delayed epiphyseal ossification, Calcification of cartilage, Narrow chest, Micr... ORPHA:2867
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Joint hypermobility, Kyphoscoliosis, Osteopenia ORPHA:300179
Bazex-Dupré-Christol Syndrome
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... ORPHA:113
Coffin-Lowry Syndrome
Highly arched eyebrow, Pectus excavatum, Abnormal hair morphology, Pectus carinatum, Tapered fing... OMIM:303600
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair OMIM:129490
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Dystrophic fingernails, Craniosynostosis, Cough, Delayed eruption of te... ORPHA:2314
Cystic renal dysplasia, Thoracic hypoplasia, Micrognathia, Absent in utero ossification of verteb... OMIM:608022
Osteogenesis Imperfecta
Carious teeth, Neonatal respiratory distress, Abnormal form of the vertebral bodies, Abnormal den... ORPHA:666
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Narrow chest, Short ribs, Respiratory insufficiency OMIM:211120
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, Aspirati... ORPHA:90117
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Flexion contracture OMIM:617105
Diastrophic Dysplasia
Micrognathia, Respiratory insufficiency, Short finger, Abnormal clavicle morphology, Abnormal for... ORPHA:628
Joubert Syndrome 18
Joint laxity, Kyphoscoliosis, Camptodactyly OMIM:614815
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Micrognathia, Neonatal respiratory distress, Tachypnea, Pneumot... ORPHA:2257
Death in infancy, Cone-shaped epiphysis, Bowing of the long bones, Abnormality of the metaphysis,... ORPHA:166272
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Cleft palate, High palate, Submucous cleft hard palate, Kyphoscoliosis, Ar... OMIM:114300
Sinusitis, Abnormality of the vertebral column, Pleuritis, Chronic pulmonary obstruction, Hyperse... ORPHA:1163
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Knee flexion contracture, Kyphosis, Spinal rigidity, Hyperextensibility at wrists, ... ORPHA:75840
Radio-Renal Syndrome
Micrognathia, Micromelia, Abnormal form of the vertebral bodies, Hypoplasia of the radius, Short ... ORPHA:3015
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Bronchiolitis, Exertional dyspnea, Decreased cervical spine flexion ... ORPHA:254361
Orofaciodigital Syndrome Iii
Pectus excavatum, Supernumerary tooth, Short sternum, Postaxial foot polydactyly, Postaxial hand ... OMIM:258850
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Long thorax, Sparse axillary hair, Progeroid facial appearance, Disharmonious carpal bone, Genu v... OMIM:608154
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Irregular vertebral endplates, Beaking of vertebral bodies, Increased... OMIM:231070
Achondrogenesis Type 1A
Micrognathia, Aplasia/Hypoplasia of the lungs, Multiple rib fractures, Short thorax, Short foot, ... ORPHA:93299
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Synophrys OMIM:615541
Momo Syndrome
Delayed eruption of teeth, Short sternum, Taurodontia, Cutis marmorata, Dental malocclusion OMIM:157980
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Autosomal Dominant Centronuclear Myopathy
Neonatal asphyxia, Respiratory insufficiency due to muscle weakness, Thin ribs ORPHA:169189
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Ectopic ossification in muscle tissue, Ectopic ossification in ligamen... OMIM:135100
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Flexion contracture OMIM:616081
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the ... OMIM:612350
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Hyperlordosis, Flexion contracture, Short neck, Scoliosis OMIM:300718
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
High palate, Frontal balding, Lumbar kyphosis in infancy, Short philtrum, Early balding, Kyphosco... ORPHA:3041
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Flexion contracture OMIM:607855
Orofaciodigital Syndrome Type 3
Pectus excavatum, Stage 5 chronic kidney disease, Short sternum, Thoracic kyphosis, Postaxial foo... ORPHA:2752
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis OMIM:268500
Cerebrooculofacioskeletal Syndrome 2
Kyphoscoliosis, Sparse hair, Camptodactyly of finger OMIM:610756
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Recurrent... ORPHA:1486
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea, Clubbing OMIM:219400
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Sparse hair, Thick eyebrow OMIM:606242
Melnick-Needles Syndrome
Short thorax, Delayed eruption of teeth, Recurrent respiratory infections, Cone-shaped epiphyses ... ORPHA:2484
Leukodystrophy, Hypomyelinating, 3
Progressive flexion contractures, Kyphoscoliosis, Arthrogryposis multiplex congenita OMIM:260600
Progressive Pseudorheumatoid Dysplasia
Decreased cervical spine mobility, Kyphoscoliosis, Osteoporosis, Joint contracture of the hand, P... OMIM:208230
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Prominent interphalangeal joints, Long thorax, Pectus excavatum, Obstruc... OMIM:618371
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Hip contracture, Hamstring contractures, Spinal rigidity, H... ORPHA:97244
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity, Achilles tendon contracture OMIM:604801
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Long philtrum, Cleft soft palate, Kyphoscoliosis, Gingival overgrowth, Sacral di... OMIM:616331
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology ORPHA:1006
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... ORPHA:244
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Anterior rib cupping, Rhizomelia, Platyspondyly, Recurrent pneumonia, Short ... OMIM:602271
Microphthalmia, Syndromic 13
Kyphoscoliosis, Diastema OMIM:300915
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis, Massively thickened long bone cortices OMIM:122900
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Dystonia, Juvenile-Onset
Cleft upper lip, Kyphoscoliosis, Cleft palate OMIM:607371
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dystrophy, Nail dysplasia, Sparse hair, Supernumerary nipple OMIM:275450
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Pulmonary hypoplasia, Abnormal lung lobation, Abnormality of epip... ORPHA:2631
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ri... OMIM:613686
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Respiratory insufficiency, Renal dysplasia, B... OMIM:617641
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Abnormal thorax morphology, Respiratory distress, ... ORPHA:50251
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Hypoplastic nipples, Respiratory insufficiency, Hypoplastic scapulae, Short fing... OMIM:269860
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Neonatal death, Mesomelia, Respiratory failure, Hypoplas... OMIM:228940
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Flexion contracture OMIM:613869
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Hidrotic Ectodermal Dysplasia, Halal Type
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Abnormal toenail morphology, Na... ORPHA:1809
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Progressive congenital scoliosis, Respiratory insufficiency, Kyphoscoliosis, Osteoporo... OMIM:225400
Pallister-Hall-Like Syndrome
Micrognathia, Death in infancy, Renal dysplasia, Short ribs, Hip dislocation, Micropenis, Postaxi... OMIM:241800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, 2-3 toe syndactyly, Microretrognathia, Renal dysplasia, Neonatal death, Renal c... OMIM:236500
Congenital Contractural Arachnodactyly
High palate, Duodenal atresia, Arthrogryposis multiplex congenita, Intestinal malrotation, Trache... ORPHA:115
Achondrogenesis Type 2
Micromelia, Delayed proximal femoral epiphyseal ossification, Pulmonary hypoplasia, Short ribs, A... ORPHA:93296
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Atlantoaxial dislocation, Restrictive ventilatory defect, Congenital kyphoscoliosi... ORPHA:536467
Warburg Micro Syndrome 3
Hypertrichosis, Low anterior hairline, Kyphoscoliosis, Narrow palate, Downturned corners of mouth... OMIM:614222
Greenberg Dysplasia
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... ORPHA:1426
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Flexion contracture OMIM:615348
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Distichiasis, Low anterior hairline, Sparse hair OMIM:227260
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, High palate, Hip contract... ORPHA:1145
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Abnormal respiratory system physiology, ... ORPHA:449280
King-Denborough Syndrome
High palate, Kyphoscoliosis, Deep philtrum, Joint hypermobility, Thoracic kyphosis, Short neck, S... OMIM:619542
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Aplasia/Hypoplasia of the lungs, Craniosynostosis, Malar flattening, Split hand, Fi... ORPHA:2145
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Respiratory insufficiency, Wide-cupped costochondral junctions,... OMIM:187601
Rahman Syndrome
Kyphoscoliosis, Camptodactyly OMIM:617537
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Chst3-Related Skeletal Dysplasia
Highly arched eyebrow, Intervertebral space narrowing, Long philtrum, Kyphoscoliosis, Abnormal fo... ORPHA:263463
Apnea, Central Sleep
Abnormal pattern of respiration, Cyanosis, Urinary incontinence, Sleep apnea, Irregular respiration OMIM:207720
Braddock Syndrome
Pectus excavatum, Neonatal respiratory distress, Micrognathia, Hemivertebrae, Pulmonary arterial ... ORPHA:52047
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Platyspondyly, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyelashes, Kyphoscoliosis, Sparse scalp hair, Osteopenia, Abnormality of primary teeth, Gi... ORPHA:75496
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress, Micrognathia, Clinodactyly OMIM:300934
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Spastic Paraplegia 20, Autosomal Recessive
Hyperextensible hand joints, Kyphoscoliosis, Drooling, Flexion contracture, Camptodactyly OMIM:275900
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Respiratory insufficiency, Decreased cervical spine mobility, Spinal... ORPHA:370968
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Metaphyseal irregularity, Short ribs, Foot polydactyly, Hand polydactyly, Chron... OMIM:208500
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse eyelashes, Sparse body hair OMIM:618535
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Central apnea, Neonatal respiratory distr... ORPHA:79345
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Long eyelashes, Alopecia OMIM:275400
Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Limited elbow extension, Abn... OMIM:146000
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Osteolytic defec... OMIM:265800
Richieri Costa-Da Silva Syndrome
Generalized bone demineralization, Vertebral wedging, Beaking of vertebral bodies, Kyphoscoliosis... ORPHA:3101
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Mandibular prognathia, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical ... OMIM:122860
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Albinism, Kyphosis, Hypopigmentation of hair ORPHA:2786
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Kyphoscoliosis, High palate, Enamel hypoplasia OMIM:600991
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... ORPHA:36238
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Neuralgic Amyotrophy
Scapular winging, Sprengel anomaly, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Hemivertebrae, Posterior rib fusion, Mis... OMIM:122600
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Short thorax, Sandal ga... OMIM:617102
Split-Hand/Foot Malformation 3
Renal hypoplasia, Nail dystrophy, Split hand, Camptodactyly, Hypoplasia of the maxilla, Microretr... OMIM:246560
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Micrognathia, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae,... ORPHA:2522
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Respiratory failure,... ORPHA:99931
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Distal arthrogryposis, Ankle flexion contracture, Micrognathia, Hip contracture, Pulmonary hypopl... OMIM:617468
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Micrognathia, Pulmonary hypoplasia, Bowing of the long bones, Neonatal death... OMIM:224410
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Cleft soft palate, Kyphoscoliosis, Platyspondyly, Scoliosis ORPHA:93316
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Abnormal clavicle morphology, Rhizomelia, Platyspondyly, Decreased skull ossificati... ORPHA:93267
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Multiple glomerular cysts, Renal cyst, Nephrolithiasis, Glycosuria... OMIM:137920
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... OMIM:259610
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Recurrent respiratory infections, Short ribs OMIM:187750
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Rothmund-Thomson Syndrome, Type 1
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Sparse hair OMIM:618625
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:146110
Restrictive Dermopathy
Thoracic kyphoscoliosis, Increased anterioposterior diameter of thorax, Thin clavicles, Micrognat... ORPHA:1662
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Abnormal cortical bone morphology, Sprengel anoma... ORPHA:2097
Spondylospinal Thoracic Dysostosis
Micrognathia, Short thorax, Arthrogryposis multiplex congenita, Hypoplasia of the maxilla, Pulmon... OMIM:601809
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:602400
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Low posterior hairline, Recurrent respiratory infections, Nephrotic syndrome, Pectus c... OMIM:617303
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Ciliary dyskinesia, Chronic si... OMIM:244400
Monosomy 18P
Carious teeth, Hypodontia, Cleft palate, Short philtrum, Kyphoscoliosis, Alopecia, Tooth malposit... ORPHA:1598
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Thoracic hypoplasia, Hydronephrosis, Micrognathia, Adducted thumb, Decreased fibular... OMIM:616897
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Respiratory distress, Abnormal renal corticomedullary differentiation, Flexion c... OMIM:616733
Intermediate Nemaline Myopathy
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Abnormal thorax morphology, Flex... ORPHA:171433
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Micrognathia, Malar flattening, Renal cyst, Short sternum, Micropenis, Nephroblastoma OMIM:257300
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Hirsutism, Kyphoscoliosis, Coarse hair, Dense calvaria, Everted lo... OMIM:252930
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Neonatal respiratory distress, Short greater sciatic notch, Short nail, Broad toe, S... OMIM:312870
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Respiratory insufficiency, Malar flattening, Still... OMIM:600972
Fetal Akinesia Deformation Sequence 1
Thoracic hypoplasia, Micrognathia, Elbow ankylosis, Thin ribs, Stillbirth, Arthrogryposis multipl... OMIM:208150
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Malar flattening, Stillbirth, Short ribs, Advanced ossi... OMIM:215045
Scholte Syndrome
Kyphoscoliosis, Everted lower lip vermilion OMIM:300977
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short ribs, Syndactyly, Sparse hair, Short long bone, Flat acetabular roof, Fine hai... OMIM:614091
Fryns Syndrome
Thoracic hypoplasia, Microretrognathia, Thin ribs, Stillbirth, Joint contracture of the hand, Sho... OMIM:229850
Mucopolysaccharidosis, Type Iva
Carious teeth, Cervical subluxation, Mandibular prognathia, Osteoporosis, Platyspondyly, Prominen... OMIM:253000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Micrognathia, Thin ribs, Coarse hair, Fused cervical vertebrae, Respiratory distr... ORPHA:83617
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Oligodontia, Abnormal vertebral morphology, Kyphoscoliosis, Downturned corners of mout... OMIM:616817
Mucopolysaccharidosis, Type Ivb
Carious teeth, Cervical subluxation, Mandibular prognathia, Osteoporosis, Platyspondyly, Prominen... OMIM:253010
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, High palate, Epiphyseal stippling, Anterior rib punctate calcifications, Spinal... ORPHA:35173
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... ORPHA:210110
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis... OMIM:156510
Coffin-Siris Syndrome 1
Hypospadias, Delayed eruption of teeth, Cutis marmorata, Ectopic kidney, Recurrent respiratory in... OMIM:135900
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Biconcave vertebral bodies, High palate, Brittle hair, Osteoporosis, Kyphoscoliosis, Limitation o... OMIM:236200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Short philtrum, Low anterior hairline, Oligodontia, Long philtrum, Synophrys, Kyphosco... ORPHA:391408
Fine hair, Sparse hair ORPHA:2118
Cooper-Jabs Syndrome
Respiratory insufficiency, Malar flattening, Missing ribs, Reduced bone mineral density, Abnormal... ORPHA:1488
Roussy-Lévy Syndrome
Kyphoscoliosis, Scoliosis ORPHA:3115
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Kyphoscoliosis ORPHA:370980
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Recurren... ORPHA:258
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis OMIM:607831
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Micrognathia, Hip contracture, Rocker bottom foot, Respiratory insuffi... ORPHA:1143
Pseudopelade Of Brocq
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... ORPHA:129
Joint Laxity, Short Stature, And Myopia
Short neck, Kyphoscoliosis, Osteopenia OMIM:617662
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Clubbing, Cyanosis, Recurrent respiratory infections, ... OMIM:610910
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis, Tongue fasciculations OMIM:614707
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Broad hallux phalanx, Micrognathia, Abnormal hair ... ORPHA:3082
Meier-Gorlin Syndrome 3
Hypospadias, Aplasia/Hypoplasia of the patella, Genu varum, Microretrognathia, Micrognathia, Spar... OMIM:613803
Schwartz-Jampel Syndrome, Type 1
Long eyelashes in irregular rows, Shoulder flexion contracture, Hip contracture, Flexion contract... OMIM:255800
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Waardenburg Syndrome Type 3
White hair, Synostosis of carpal bones, Thick eyebrow, Camptodactyly of finger, Joint stiffness, ... ORPHA:896
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Respiratory insufficiency, Rib segmentation abnormalitie... ORPHA:2311
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormal scapula morphology, ... ORPHA:2141
Arthrogryposis, Distal, Type 2A
Hip contracture, Whistling appearance, Joint contracture of the hand, Camptodactyly, Elbow flexio... OMIM:193700
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis, Vertebral compression fracture, Kyphosis ORPHA:85193
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Spinal canal stenosis, Hypodontia, Dens in dente, Vertebral fusion, Hemiverteb... OMIM:263540
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Alopecia of scalp, Kyphoscoliosis, Back pain, Localized osteoporosis, Cervical spondylosis ORPHA:199354
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Dystrophic toenail, Abnormal dental enamel morphology, Delayed eruption... ORPHA:1452
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Mosaic Trisomy 14
Micrognathia, Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck ORPHA:1703
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Missing... ORPHA:3301
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Pontocerebellar Hypoplasia, Type 10
Highly arched eyebrow, High palate, Kyphoscoliosis, Long eyelashes, Thin upper lip vermilion OMIM:615803
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Pectus carinatum, Short metatarsal, Osteoporosis, Platyspondyly, Synostos... ORPHA:93351
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Calcium nephrolithiasis, ... ORPHA:60025
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse eyelashes, Sparse hair, Sparse eyebrow, Hypoplastic toenails OMIM:616901