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Gene: Trps1 MGI:1927616

Gene Summary

Name:

transcriptional repressor GATA binding 1

Synonyms:

D15Ertd586e, trichorhinophalangeal syndrome I (human)

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased fasting circulating glucose level		Trps1^{em1(IMPC)Wtsi}	HET		Early adult	1.57×10^-05
preweaning lethality, complete penetrance		Trps1^{em1(IMPC)Wtsi}	HOM		Early adult	0.00

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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.

Legacy Phenotype Associated Images

Trps1^{em1(IMPC)Wtsi}
HOM, Female, WTSI

Trps1^{em1(IMPC)Wtsi}
HOM, Male, WTSI

Trps1^{em1(IMPC)Wtsi}
head, abnormal snout morphology, asymmetric snout, snout, HET, Female, WTSI

Trps1^{em1(IMPC)Wtsi}
snout, abnormal snout morphology, asymmetric snout, head, HET, Female, WTSI

Trps1^{em1(IMPC)Wtsi}
asymmetric snout, abnormal snout morphology, head, snout, HET, Female, WTSI

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.

Human diseases associated with Trps1 (4 diseases)
Human diseases predicted to be associated with Trps1 (2372 diseases)

The table below shows human diseases associated to Trps1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Ivory e...	OMIM:190350
Trichorhinophalangeal Syndrome Type 2	Wide nasal bridge, Abnormality of the dentition, Long philtrum, Thick nasal alae, Bulbous nose, A...	ORPHA:502
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Dental crowding, Long philtrum, Underdeveloped nasal alae, Bulbous nose, Pear-shaped ...	OMIM:190351
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Long philtrum, Camptodactyly of finger, Bulbous nose, Micrognathia,...	ORPHA:77258

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

Disease	Matching phenotypes	Source
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Hypotrichosis 2	Abnormality of the nail, Sparse scalp hair	OMIM:146520
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Ichthyosis--Cheek--Eyebrow Syndrome	High palate, Sparse lateral eyebrow, Kyphoscoliosis	OMIM:146720
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor...	ORPHA:2025
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Lowry-Maclean Syndrome	Convex nasal ridge, Craniosynostosis, Delayed eruption of teeth, Cleft palate	OMIM:600252
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate	ORPHA:2015
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v...	OMIM:619736
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Taurodontia, Pu...	OMIM:166750
17Q21.31 Microduplication Syndrome	Abnormality of the dentition, Anteverted nares, Micrognathia, Malar flattening, High palate, Shor...	ORPHA:217340
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hypertrichosis, Congenital Generalized, 2	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertrichosis, Kyphoscoliosis,...	OMIM:117850
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas...	OMIM:618761
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro...	ORPHA:2972
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Joint hypermobility, Kyphoscoliosis	OMIM:236660
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Ectodermal Dysplasia 5, Hair/Nail Type	Dystrophic fingernails, Absent toenail, Sparse scalp hair	OMIM:614927
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse eyebrow, Absent eyebrow, Sparse scalp hair, Sparse eyelashes	OMIM:620199
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Depressed ...	ORPHA:2863
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Short...	ORPHA:71267
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Retrognathia, Atelectasis, Death in infancy, Neonatal death, Joint hypermobility	OMIM:300219
Osteogenesis Imperfecta, Type X	Thin ribs, Micrognathia, Death in childhood, Osteopenia, Thoracic hypoplasia, Generalized joint h...	OMIM:613848
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Maxillonasal Dysplasia	Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Tooth agenesis, Open bi...	ORPHA:1248
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Thoracolumbar kyphosis, Narrow chest, Rhizomelia, Thoracic hypoplasia, Severe limb sho...	OMIM:151210
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Median cleft palate, Gingiva...	ORPHA:1832
Aredyld	Generalized hypotrichosis	OMIM:207780
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid's bow, Thick vermilion b...	OMIM:618506
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Odontochondrodysplasia	Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Death...	ORPHA:166272
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Atelectasis, Chronic sinusitis, Bronchiectasis	OMIM:615294
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hypermobility, Everted lower lip vermilion, Convex na...	ORPHA:1695
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair	OMIM:616099
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Depressed nasal bridge, Hypermobility of int...	OMIM:613849
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Short finger, Micrognathia, Increased susceptibility to fractures, Vertebral fusion, A...	OMIM:312150
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, Underdeveloped nasal alae, Anteverted ...	OMIM:618825
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent...	ORPHA:83451
Flynn-Aird Syndrome	Alopecia, Joint stiffness, Increased bone density with cystic changes, Alopecia of scalp, Kyphosc...	OMIM:136300
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis	ORPHA:93304
Craniometaphyseal Dysplasia, Autosomal Recessive	Wide nasal bridge, Depressed nasal ridge, Facial hyperostosis, Nasal congestion, Delayed eruption...	OMIM:218400
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr...	OMIM:616583
Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence	OMIM:261800
Tetrasomy 12P	Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Thoracic hypoplasia, Respiratory insufficiency, Bell-shaped thorax, Mul...	OMIM:166210
Frank-Ter Haar Syndrome	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Delayed eruption of teeth, Camp...	ORPHA:137834
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Micrognathia, Recurrent fractures, Bowing of limbs due to m...	OMIM:259420
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Deep ...	ORPHA:261120
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Hypoplasia of th...	ORPHA:958
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm...	ORPHA:1354
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Thick eyebrow, Radioulnar synostosis, Abnormal rib morphology, Scoliosis, Synop...	ORPHA:3268
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,...	ORPHA:2791
Kagami-Ogata Syndrome	Thin ribs, Hypoplasia of the maxilla, Retrognathia, Bell-shaped thorax, Micrognathia, Kyphoscolio...	OMIM:608149
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Short finger, Micrognathia, Increased susceptibility to fractures, Vertebral fusion, A...	OMIM:253290
Temple-Baraitser Syndrome	Wide nasal bridge, Depressed nasal bridge, Everted upper lip vermilion, Delayed eruption of teeth...	ORPHA:420561
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Hip osteoarthritis, Delayed eruption of teeth, Joint hypermobility	ORPHA:63442
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc...	OMIM:614237
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Long eyelashes, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Thin bo...	OMIM:617952
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Depressed nasal ridge, Delayed eruption of teeth	ORPHA:1816
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man...	ORPHA:2325
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Laron Syndrome	Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in...	ORPHA:633
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Aarskog-Scott Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of t...	ORPHA:915
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Elbow contracture, Hip contracture, Kyphoscoliosis, Wrist flexion contracture, Ankle contracture,...	OMIM:620386
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Abnormal form of the v...	ORPHA:73230
3M Syndrome	Thin ribs, Delayed eruption of teeth, Micromelia, Abnormal dental enamel morphology, Thick eyebro...	ORPHA:2616
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Microdontia, Delayed eruption of perman...	OMIM:619356
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Short femoral neck, Joint hypermobility, Narrow vertebral interpedicula...	OMIM:618395
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis	OMIM:612913
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Micromelia, ...	ORPHA:2635
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Multiple prenatal fractures, Flexion contracture, Arthrogr...	ORPHA:171430
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of ...	OMIM:616367
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
X-Linked Hypohidrotic Ectodermal Dysplasia	Depressed nasal ridge, Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Evert...	ORPHA:181
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Atelectasis	OMIM:300455
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Coffin-Siris Syndrome 3	Depressed nasal bridge, Long philtrum, Delayed eruption of permanent teeth, Anteverted nares, Joi...	OMIM:614608
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol...	OMIM:300717
Cole-Carpenter Syndrome 2	Thin ribs, Platyspondyly, Dentinogenesis imperfecta, Microretrognathia, Lambdoidal craniosynostos...	OMIM:616294
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Rhizomelia, Distal shortening of limbs, 11 pairs of ribs, Hypoplasia of...	OMIM:300863
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Retrognathia, Joint hypermobility, Respiratory insufficiency	ORPHA:456328
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Pseudopseudohypoparathyroidism	Osteoporosis, Depressed nasal bridge, Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence	OMIM:311895
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Dental malocclusion, Short nose	OMIM:155050
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Kyphosis, Respiratory insufficiency, Short finger, Sclerosis of ...	OMIM:313420
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi...	ORPHA:3019
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Retrognathia, Micrognathia, Decreased calvarial ossification, Craniosynostosis, Arthro...	OMIM:618265
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os...	OMIM:600561
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Osteolysis	ORPHA:2776
Coffin-Siris Syndrome 2	Depressed nasal bridge, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Ante...	OMIM:614607
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Spinocerebellar Ataxia, Autosomal Recessive 20	Wide nasal base, Dental crowding, Delayed eruption of teeth, Long philtrum, Bulbous nose, Antever...	OMIM:616354
Fibrochondrogenesis 1	Thin ribs, Platyspondyly, Hypoplastic scapulae, Small hand, Rhizomelia, Thoracic hypoplasia, Post...	OMIM:228520
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Decreased skull ossification, Calvarial osteosclerosis, Cor...	ORPHA:93324
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Delayed eruption of teeth	OMIM:619489
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle...	OMIM:214150
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,...	OMIM:156530
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Micrognathia, Long philtrum, Short nose	ORPHA:2598
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Spinal rigidity, Pulmonary hypoplasia, Shoulder flexion contracture, Thoracic hypoplas...	OMIM:620369
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Three M Syndrome 2	Thin ribs, Pectus carinatum, Short 5th finger, Dental malocclusion, Delayed eruption of teeth, Lu...	OMIM:612921
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Knee flexion contracture, Kyphoscoliosis	ORPHA:496689
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Platyspondyly, Hypoplasia of the odontoid process, Short finger, Thick eyebrow, Malar ...	OMIM:300232
Hall-Riggs Syndrome	Wide nasal bridge, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel...	ORPHA:2107
Fetal Akinesia Deformation Sequence 4	Wide nasal bridge, Retrognathia, Micrognathia, Prenatal death, Neonatal death, Camptodactyly, Hig...	OMIM:618393
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Aspiration pneumonia, Respiratory distress, Temporomandibular join...	ORPHA:141152
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro...	OMIM:137550
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Prominent nas...	ORPHA:50814
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Rhizomelia, Micrognathia, Death in infancy, Short foot, Short palm	ORPHA:163966
Ullrich Congenital Muscular Dystrophy 2	Joint hypermobility, High palate, Flexion contracture, Kyphoscoliosis	OMIM:616470
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Hirsutism, Lumbar scoliosis, Kyphoscoliosis, Irregular vertebral endplates	OMIM:612847
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Horseshoe kidney, Apnea, Thick ey...	ORPHA:2886
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Long philtrum, Joint hypermobility, Osteoarthritis, Short nose, Cleft ...	ORPHA:90653
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis, Flexion contracture	OMIM:168400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Depressed nasal bridge, Joint contracture of the hand, Dental malocclusion, Delayed ...	OMIM:612350
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Lowry-Maclean Syndrome	High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Pyloric stenosis, Osteopenia, Re...	ORPHA:2409
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Craniolenticulosutural Dysplasia	Wide nasal bridge, Bifid uvula, Osteopenia, Carious teeth, Delayed eruption of teeth, Long philtr...	OMIM:607812
Pycnodysostosis	Carious teeth, Persistence of primary teeth, Micrognathia, Prominent nose, Delayed eruption of pr...	OMIM:265800
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Wide nasal bridge, Coarse metaphyseal trabecularization, Delaye...	ORPHA:2780
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Short nose	OMIM:613670
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insuff...	OMIM:615993
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Kyphoscoliosis	OMIM:300844
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Decreased skull ossification, Calvarial osteosclerosis, Lon...	OMIM:244460
Spinal Muscular Atrophy, Ryukyuan Type	Kyphoscoliosis	OMIM:271200
Lethal Congenital Contracture Syndrome 5	Thin ribs, Congenital contracture, Respiratory insufficiency, Death in infancy, Flexion contracture	OMIM:615368
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Micrognathia, Sparse hair, Ovoid vertebral bodies	OMIM:620601
Congenital Myopathy 23	High palate, Flexion contracture, Kyphoscoliosis	OMIM:609285
Immunodeficiency 95	Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in...	OMIM:619773
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	High, narrow palate, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Kyphoscol...	ORPHA:3433
Codas Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de...	ORPHA:1458
Scarf Syndrome	Pectus carinatum, Perineal hypospadias, Joint hypermobility, Low posterior hairline, Short sternu...	ORPHA:3134
Nestor-Guillermo Progeria Syndrome	Thin ribs, Alopecia, Sparse eyebrow, Dental malocclusion, Microretrognathia, Pathologic fracture,...	OMIM:614008
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate	ORPHA:2016
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Wide nasal bridge, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of prima...	OMIM:618342
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormal palate morphology, Death in infancy...	ORPHA:1495
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Abnormal lung morphology, Tracheobronchomalacia, Pulmonary sequestration,...	ORPHA:70589
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ...	OMIM:271520
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas...	ORPHA:1818
Nemaline Myopathy 7	High palate, Knee flexion contracture, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:610687
Jeune Syndrome	Nephropathy, Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, ...	ORPHA:474
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Bifid nasal tip, Delayed eruption of teeth, Long...	ORPHA:2712
Cornelia De Lange Syndrome 1	Cutis marmorata, Micrognathia, Low posterior hairline, Dislocated radial head, Hypospadias, Ectop...	OMIM:122470
Osteogenesis Imperfecta, Type Viii	Thin ribs, Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Recurrent fractures, Barrel-shap...	OMIM:610915
Hyperekplexia 4	Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, High palate, Flexion contracture	OMIM:618011
Meier-Gorlin Syndrome 1	Thin ribs, Small hand, Joint contracture of the hand, Micrognathia, Patellar aplasia, Aplasia/Hyp...	OMIM:224690
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wid...	ORPHA:2429
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Long philtrum, Micrognathia, Prominent nasal bridge, Joint hypermobility, Thin u...	OMIM:613544
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan...	OMIM:186500
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, High palate, Short nose	OMIM:300577
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Abnormal thorax morphology, Respiratory tract infection, Pulmonary edema,...	ORPHA:70587
Microphthalmia, Syndromic 12	Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Neonatal ...	OMIM:615524
Diastrophic Dysplasia	Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Hip contracture, Kyphosc...	OMIM:222600
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Micrognathia, Death in infancy, Thin upper lip vermilion, High palate, Sh...	OMIM:615042
Tarp Syndrome	Clinodactyly, Horseshoe kidney, Micrognathia, Neonatal death, Postaxial polydactyly, Short sternu...	OMIM:311900
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Diaphanospondylodysostosis	Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib...	ORPHA:66637
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Hirsutism, Generalized osteoporosis, Kyphosis	OMIM:277950
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ...	OMIM:614744
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Anteverted nares, T...	OMIM:615866
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth	OMIM:183300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Osteoporosis of vertebrae, ...	OMIM:156510
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Maternal Uniparental Disomy Of Chromosome 9	Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck, Elbow ankylosis	ORPHA:96183
Mesomelic Limb Shortening And Bowing	Micrognathia, Retrognathia, Cleft palate, Camptodactyly of finger	OMIM:249710
Congenital Arthrogryposis With Anterior Horn Cell Disease	Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Neonatal death, Short neck, Respi...	OMIM:611890
Pseudo-Torch Syndrome 2	Thin ribs, Acute respiratory distress syndrome, Pleural effusion, Respiratory insufficiency	OMIM:617397
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Barrel-shaped chest, Low...	OMIM:312830
Perlman Syndrome	High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal upper lip morphology, Micrognathia...	ORPHA:2849
Chung-Jansen Syndrome	Long philtrum, Anteverted nares, Micrognathia, Joint hypermobility, Short philtrum, Thin vermilio...	OMIM:617991
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Parc Syndrome	Microretrognathia, Cleft palate	OMIM:600331
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathi...	ORPHA:163649
Fetal Akinesia Deformation Sequence 2	Wide nasal bridge, Micrognathia, Tented upper lip vermilion, High palate, Flexion contracture, Cl...	OMIM:618388
Stuve-Wiedemann Syndrome 1	Thin ribs, Carious teeth, Short tibia, Micrognathia, Short neck, Sparse hair, Ovoid vertebral bod...	OMIM:601559
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Kyphoscoliosis, Rib fusi...	OMIM:277300
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Death in infancy, ...	ORPHA:93946
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio...	OMIM:257850
Autosomal Dominant Spondylocostal Dysostosis	Abnormal sacrum morphology, Abnormal rib morphology, Vertebral segmentation defect, Missing ribs,...	ORPHA:1797
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Epiphyseal stippling, Calcific stippling of infantile cartilaginous skeleton, Kyphoscol...	OMIM:215100
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Micromelia, Jo...	ORPHA:1801
Pycnodysostosis	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Coro...	ORPHA:763
Whistling Face Syndrome, Recessive Form	Microglossia, Shoulder flexion contracture, Elbow flexion contracture, Knee flexion contracture, ...	OMIM:277720
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Recurrent pneumonia, Sparse eyebrow, Decreased number of...	OMIM:234100
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Long philtrum, Short nose	OMIM:125700
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger...	ORPHA:1327
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Depressed nasal bridge, Carious teeth, Hypopla...	ORPHA:1452
Frontonasal Dysplasia 1	Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Joint contracture...	OMIM:136760
Peho-Like Syndrome	Open mouth, Retrognathia, Short nose	OMIM:617507
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Depressed nasal bridge, Premature osteoarthritis, Anteverted nares, Malar flattening, Cleft palat...	OMIM:184840
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae, Recurre...	OMIM:608681
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili...	OMIM:620076
Marshall-Smith Syndrome	Hypoplasia of the odontoid process, Aspiration pneumonia, Death in childhood, Prominence of the p...	OMIM:602535
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Osteomyel...	ORPHA:2314
Frontometaphyseal Dysplasia 1	Partial fusion of carpals, Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Hig...	OMIM:305620
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Kyphoscoliosis, Vertebral segmentation defect, Generalized joint hy...	ORPHA:85198
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental e...	ORPHA:10
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Absent nipple, Narrow chest, Abnormal sacral segmentation, Rudim...	OMIM:200980
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Thin upper lip vermi...	OMIM:613604
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Miscarriage, Neonatal asphyxia, Respiratory insufficiency due to muscle weakness	ORPHA:169189
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bon...	ORPHA:2114
Nemaline Myopathy 9	High palate, Micrognathia, Arthrogryposis multiplex congenita, Cleft palate	OMIM:615731
Spondyloepiphyseal Dysplasia Tarda	Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter...	ORPHA:93284
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Retrognathia, Hypertrichosis, Clinodactyly of the 5th toe, Short sternu...	OMIM:620113
Distal Duplication 18Q	Choanal atresia, Carious teeth, Camptodactyly of finger, Abnormal dental morphology, Anteverted n...	ORPHA:1716
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Dela...	ORPHA:950
Momo Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip...	OMIM:157980
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal...	ORPHA:2759
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair	OMIM:129490
Ulbright-Hodes Syndrome	Thin ribs, Abnormal penis morphology, Renal hypoplasia, Pulmonary hypoplasia, Abnormal forearm bo...	ORPHA:3404
Brachydactyly, Type B1	Joint contracture of the hand, Camptodactyly, Vertebral fusion, Delayed eruption of permanent tee...	OMIM:113000
Achondrogenesis Type 1B	Narrow chest, Micromelia, Abnormal rib morphology, Abnormal enchondral ossification, Micrognathia...	ORPHA:93298
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Cutis marmorata, Femoral bowing, Taurodontia, Sho...	ORPHA:2563
Mosaic Trisomy 14	Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bridg...	ORPHA:1703
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Depressed nasal bridge, Dela...	ORPHA:192
Hypophosphatasia	Narrow chest, Respiratory insufficiency, Emphysema, Abnormal rib morphology, Craniosynostosis, Re...	ORPHA:436
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Narrow mouth, Malar flattening, Abnor...	ORPHA:2412
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Widely spaced teeth, Delayed eruption of teeth, Thick lo...	OMIM:619797
Intellectual Developmental Disorder, X-Linked 21	Dental crowding, Tented upper lip vermilion, Open mouth, Joint hypermobility, Mandibular prognath...	OMIM:300143
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal l...	ORPHA:2357
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne...	OMIM:184100
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Bronchiectasis, Abn...	ORPHA:922
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Kyphoscoliosis	OMIM:619099
Bullous Dystrophy, Hereditary Macular Type	Short finger, Alopecia totalis, Death in childhood, Acrocyanosis, Tapered finger	OMIM:302000
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Thoracic hypoplasia, M...	OMIM:256050
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs ...	OMIM:259440
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of...	OMIM:619110
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Hypoplasia of the maxilla, Delayed eruption of teeth, ...	OMIM:601812
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ...	OMIM:263000
Lethal Recessive Chondrodysplasia	Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Generalize...	ORPHA:1423
Perching Syndrome	Respiratory distress, Camptodactyly, Cyanosis, Joint contracture	OMIM:617055
Meconium Aspiration Syndrome	Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothor...	ORPHA:70588
Treacher Collins Syndrome 4	Choanal stenosis, Micrognathia, Malar flattening, Cleft palate	OMIM:618939
Osteoglosphonic Dysplasia	Choanal atresia, Tooth agenesis, Anteverted nares, Micrognathia, Multiple unerupted teeth, Abnorm...	ORPHA:2645
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Delayed eruption of teeth	OMIM:614450
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na...	OMIM:614069
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxia...	OMIM:615633
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Lumbar hemivertebrae, Osteopenia, Malar flattening, Hirsutism, Low posterior hairline,...	ORPHA:2463
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Capitate-hamate fusion, Micrognathia, Narrow mouth, ...	OMIM:614078
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Pectus carinatum, Hypoplasia of the maxilla, Joint contracture of the hand, Dental mal...	OMIM:182212
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Congenital contrac...	ORPHA:536516
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Cleft palate	OMIM:246560
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped nasal alae, Anteriorly pl...	ORPHA:2315
Arthrogryposis, Distal, Type 3	Bifid uvula, Arthrogryposis multiplex congenita, Camptodactyly of finger, Lumbar hyperlordosis, S...	OMIM:114300
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Calvarial hyperostosis	OMIM:112350
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microglossia, Micrognathia, Death in infancy, Median cleft upper lip, Sho...	OMIM:241800
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Prominent nasal bridge, Mandibular prognathia, High palate	OMIM:300676
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Vitamin D-Dependent Rickets, Type 2A	Wide nasal bridge, Delayed epiphyseal ossification, Carious teeth, Rickets, Delayed eruption of t...	OMIM:277440
Rhiny	Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Ivory e...	OMIM:190350
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Delayed ossification of carpal bones, Delayed pubic bone o...	OMIM:620099
Achondrogenesis	Abnormal enchondral ossification, Long philtrum, Anteverted nares, Micrognathia, Abnormality of b...	ORPHA:932
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Long clavicles, Hypospadias, Increased density of long bone...	OMIM:269150
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Malar flattening, Convex nasal ridge, Short nose, Craniosynostosis, Cleft palate	ORPHA:2145
Axial Spondylometaphyseal Dysplasia	Platyspondyly, Osteopenia, Neonatal respiratory distress, Narrow chest, Posterior wedging of vert...	ORPHA:168549
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Kyphoscoliosis, Thin bony cortex, Calvarial hyperos...	OMIM:176920
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B...	ORPHA:40
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Microretrognathia, Long philtrum, Short nose	ORPHA:1389
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Death in infancy	OMIM:272300
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Clubbing, Reticular patter...	OMIM:610921
Leukodystrophy, Hypomyelinating, 17	Flexion contracture, Hirsutism, Kyphoscoliosis	OMIM:618006
Diaphanospondylodysostosis	Pulmonary hypoplasia, Tracheomalacia, Thoracic hypoplasia, Nephrogenic rest, Respiratory distress...	OMIM:608022
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Micromelia, Horizontal ribs, Short ribs...	OMIM:617895
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Micrognathia, Abnormal corti...	ORPHA:1486
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Joint hypermobility, Osteopenia, Kyphoscoliosis	ORPHA:300179
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Cleft upper lip, Anteverted nares, Micrognathia, Open ...	ORPHA:819
Achondrogenesis Type 1A	Narrow chest, Micromelia, Abnormal enchondral ossification, Micrognathia, Multiple rib fractures,...	ORPHA:93299
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Kyphoscoliosis, Joint hypermobility, Hyperlordosis, Advanced ossification of car...	OMIM:618363
Recon Progeroid Syndrome	Dental crowding, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence ...	OMIM:620370
Short Stature, Brussels Type	Delayed epiphyseal ossification, Narrow chest, Microretrognathia, Horseshoe kidney, Calcification...	ORPHA:2867
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Arthritis, Bronchiectasis, Atelectasis	OMIM:620321
Andersen Cardiodysrhythmic Periodic Paralysis	Hypoplasia of the maxilla, Dental crowding, Bulbous nose, Persistence of primary teeth, Micrognat...	OMIM:170390
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Retrognathia, Camptodactyly of finger, Abnormal lung lobation, Abn...	ORPHA:2631
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Kyphoscoliosis	OMIM:600384
Diastrophic Dysplasia	Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodi...	ORPHA:628
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Unilambdoid synostosis, Broad p...	OMIM:618577
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Delayed eruption of teeth, Abnormal...	ORPHA:96264
Bamforth-Lazarus Syndrome	Choanal atresia, Retrognathia, Cleft palate	ORPHA:1226
Orofaciodigital Syndrome Type 3	Postaxial foot polydactyly, Stage 5 chronic kidney disease, Short sternum, Postaxial hand polydac...	ORPHA:2752
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Narrow chest, Natal tooth, Short toe, Atelectasis, Respiratory insufficienc...	OMIM:269860
Aase-Smith Syndrome	Camptodactyly of finger, Joint stiffness, Multiple joint contractures, Trismus, Cleft palate	ORPHA:916
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, R...	ORPHA:60032
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado...	OMIM:619751
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Micrognathia, Cleft palate, Glossoptosis	ORPHA:3104
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai...	OMIM:613102
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ...	OMIM:249620
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f...	OMIM:241310
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, White hair, Atelectasis, Camptodactyly of finger, Joi...	ORPHA:896
Elsahy-Waters Syndrome	High palate, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, Thin upper lip v...	OMIM:211380
Trichothiodystrophy 9, Nonphotosensitive	Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy	OMIM:619692
Adenylosuccinate Lyase Deficiency	Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose	ORPHA:46
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Enlarged vertebral pedicles, Micrognathia, Decreased skull ossification...	ORPHA:666
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Retrognathia, Internally rotated shoulders, Elbow flexion contracture,...	OMIM:617468
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Osteopenia, Abnormality of carpal bone ossification, Hypoplasia of ...	OMIM:608154
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hypoplasia of the maxilla, Ankle flexion contracture, Delayed eruption of teeth, Carp...	OMIM:259600
Pontocerebellar Hypoplasia, Type 1C	Joint contracture, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:616081
Periventricular Nodular Heterotopia 7	Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:617201
Catel-Manzke Syndrome	Oral synechia, Camptodactyly of finger, Joint stiffness, Micrognathia, Malar flattening, Joint hy...	ORPHA:1388
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Atelectasis, Ground-glass opacification, Cystic pattern on pulmona...	OMIM:610978
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Sclerosis of s...	OMIM:269300
Verheij Syndrome	Wide nasal bridge, Broad nasal tip, Branchial cyst, Long philtrum, Retrognathia, Anteverted nares...	OMIM:615583
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Supernum...	OMIM:258850
Ck Syndrome	Joint hypermobility, High palate, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:251383
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Narrow chest, Recurrent pneumonia, Rhizomelia, Thoracic hypoplasia, Short femoral ...	OMIM:602271
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo...	OMIM:619322
Orofaciodigital Syndrome Xix	Wide nasal bridge, Narrow palate, Bifid nasal tip, Carious teeth, Retrognathia, Downturned corner...	OMIM:620107
Pseudohypoparathyroidism, Type Ia	Depressed nasal bridge, Delayed eruption of teeth, Subcutaneous ossification, Enamel hypoplasia, ...	OMIM:103580
Ullrich Congenital Muscular Dystrophy	Elbow flexion contracture, Wrist hypermobility, Micrognathia, Increased laxity of fingers, Knee f...	ORPHA:75840
Kondoh Syndrome	Sparse hair, Thick eyebrow, Widow's peak	OMIM:606242
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Non-Distal Duplication 13Q	Abnormality of the dentition, Long philtrum, Micrognathia, Everted lower lip vermilion, Thin verm...	ORPHA:1702
Orofacial Cleft 13	Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia	OMIM:613857
Clark-Baraitser Syndrome	Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated...	OMIM:617752
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer...	ORPHA:254361
Auriculocondylar Syndrome 4	Micrognathia, Narrow mouth, Glossoptosis, Cleft palate	OMIM:620457
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Micrognathia, Thin upper lip vermilion, Smooth philtrum, Joint contracture, Slender nose, Wide mo...	OMIM:615419
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Choanal atresia, Depressed nasal bridge, Delayed eruption...	ORPHA:87
4H Leukodystrophy	Hypodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:289494
Acrootoocular Syndrome	High, narrow palate, Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Grayish ena...	ORPHA:2980
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Arthrogryposis multiplex congenita, Cleft palate	OMIM:616570
Pfeiffer Syndrome	Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Dental crowding, Coronal cran...	OMIM:101600
Ring Chromosome 8 Syndrome	Anteverted nares, Abnormal palate morphology, Short nose	ORPHA:1450
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Concave nasal ridge, Osteoporosis, Micrognathia, Delayed eruption of teeth	ORPHA:73272
Hypotrichosis 3	Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca...	OMIM:613981
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Micromelia, Absent vertebral body mineralization, Delayed pubic b...	ORPHA:93296
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth...	ORPHA:261295
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Respiratory insufficiency, Pectus excavatum, Scoliosis, Respiratory failure	OMIM:614399
48,Xxxy Syndrome	Depressed nasal ridge, Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morpholog...	ORPHA:96263
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Prominent nasal bridge, Camptodactyly of finger, High palate	ORPHA:85279
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Narrow nasal bridge, Micrognathia, Short nose	ORPHA:1514
Coffin-Lowry Syndrome	Pectus carinatum, Bifid sternum, Highly arched eyebrow, Coarse hair, Dental malocclusion, Cutis m...	OMIM:303600
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Cleft lip, Delayed eruption of teeth, Anteriorly placed anus,...	OMIM:619148
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Bulbous nose, Thin upper lip vermilion, Smooth philtrum, Widely-spaced...	OMIM:618737
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Pseudohypoparathyroidism Type 1B	Depressed nasal bridge, Delayed eruption of teeth, Increased bone density with cystic changes, En...	ORPHA:94089
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Hypoplasia of the maxilla, Joint contracture of the hand, Campto...	OMIM:600920
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Ureteral stenosis, Patellar hypoplasia, Apnea, Micrognathia...	ORPHA:2257
Gapo Syndrome	Choanal atresia, Depressed nasal bridge, Delayed eruption of teeth, Long philtrum, Thick nasal al...	ORPHA:2067
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture	OMIM:614833
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair	OMIM:618535
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ...	ORPHA:1133
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Depressed nasal bridge, Enamel hypoplasia, Delayed eruption of teeth	OMIM:612462
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res...	ORPHA:3348
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,...	OMIM:610968
Edinburgh Malformation Syndrome	Choanal atresia, Downturned corners of mouth, Anteverted nares, Micrognathia, Narrow mouth, Joint...	ORPHA:1895
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Wide nasal bridge, Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental...	ORPHA:1071
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Long philtrum, Anteverted nares...	OMIM:618529
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Carious teeth, Micrognathia, Radioulnar synostosis, Beaking of vertebra...	ORPHA:536467
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Limitation of joint mobility, Camptodactyly of finger, Duodenal stenosis, Micrognathia, Short nose	ORPHA:2547
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal ridge...	ORPHA:178303
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Joint contracture, Kyphoscoliosis	OMIM:617977
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor...	ORPHA:1782
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Depressed nasal bridge, Natal tooth, Micrognathia, Death in childhood, Death in infancy, Sagittal...	OMIM:616901
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Moynahan Syndrome	Alopecia, Sparse hair	ORPHA:2574
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Dental crowding, Natal tooth...	OMIM:145420
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture...	OMIM:616531
Stickler Syndrome, Type Ii	High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar f...	OMIM:604841
Donnai-Barrow Syndrome	Proteinuria, Short sternum, Malar flattening, Non-acidotic proximal tubulopathy	OMIM:222448
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:1006
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Joint stiffness, Microdontia, Thin upper lip vermilion, Smooth ph...	ORPHA:1915
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Butterfly vertebrae, Delayed pubic bone ossification, Kyphoscolio...	OMIM:613330
Split-Foot Deformity With Mandibulofacial Dysostosis	Micrognathia, Malar flattening, Cleft palate	OMIM:183700
Greenberg Dysplasia	Platyspondyly, Narrow chest, Rhizomelia, Abnormal form of the vertebral bodies, Micromelia, Abnor...	ORPHA:1426
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:93945
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Ankle flexion contracture, Wrist flexion contracture, Kyphoscoliosis	OMIM:616668
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Micrognathia, Malar flattening, Nephroblastoma, Short sternum, Rena...	OMIM:257300
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, T...	OMIM:271530
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death in infancy, ...	ORPHA:1790
Robinow Syndrome, Autosomal Dominant 2	Abnormality of the dentition, Depressed nasal bridge, Dental malocclusion, Dental crowding, Long ...	OMIM:616331
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Scoliosis, Respiratory failure, Respiratory insufficiency due to ...	ORPHA:2590
Melnick-Needles Syndrome	Anisospondyly, Narrow chest, Craniofacial hyperostosis, Short distal phalanx of finger, Delayed e...	ORPHA:2484
Schopf-Schulz-Passarge Syndrome	Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr...	OMIM:224750
Radio-Renal Syndrome	Multicystic kidney dysplasia, Chylothorax, Retrognathia, Micromelia, Renal agenesis, Respiratory ...	ORPHA:3015
Fetal Trimethadione Syndrome	Depressed nasal bridge, High palate, Micrognathia, Short nose	ORPHA:1913
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Long philtrum, Anteverted nares, Thin upper lip vermilion, Everted l...	OMIM:617877
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth, Esophageal stricture	OMIM:616029
Char Syndrome	Depressed nasal ridge, Depressed nasal bridge, Agenesis of permanent teeth, Persistence of primar...	ORPHA:46627
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,...	OMIM:122860
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Short nose, Cleft palate, Accessory or...	ORPHA:79113
Thoracic Dysostosis, Isolated	Pectus excavatum, Recurrent respiratory infections, Bell-shaped thorax, Short ribs	OMIM:187750
Burn-Mckeown Syndrome	Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,...	ORPHA:1200
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Marshall-Smith Syndrome	Choanal atresia, Retrognathia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tong...	ORPHA:561
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Narrow chest, Fractured rib, Undulate ribs, Short ribs, Subperiosteal bone...	OMIM:618188
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Kyphoscoliosis, Short neck, Generalized osteoporosis, Sm...	OMIM:184095
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Recurrent fractures, Delayed eruption of teeth	ORPHA:1656
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Protein-losing enteropathy, Joint contracture of the h...	OMIM:235510
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Congenital contracture, Arthrogryposis multiplex congenita, Camptodact...	ORPHA:115
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Malar flattening, Smooth philtrum, Short nose, Thin vermilion border, Craniosyn...	OMIM:601853
Emanuel Syndrome	Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Delayed eruption...	ORPHA:96170
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim...	OMIM:259710
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Deep phil...	ORPHA:2701
Pierpont Syndrome	Broad nasal tip, Widely spaced teeth, Prominent median palatal raphe, Malar flattening, Smooth ph...	OMIM:602342
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Arthrogryposis multiplex congenita, Kyphoscoliosis, Flexion contracture of finger, Flexion contra...	OMIM:618484
Trisomy 12P	Wide nasal bridge, Downturned corners of mouth, Micrognathia, Malar flattening, Everted lower lip...	ORPHA:1699
Congenital Disorder Of Glycosylation, Type Iik	Joint hypermobility, Osteoporosis, Kyphoscoliosis	OMIM:614727
Gracile Bone Dysplasia	Thin ribs, Death in infancy, Decreased skull ossification	OMIM:602361
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Delayed eruption of teeth	OMIM:617105
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:618302
Genitopatellar Syndrome	Delayed eruption of teeth, Long philtrum, Prominent nose, Micrognathia, Prominent nasal bridge, H...	ORPHA:85201
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contra...	OMIM:617194
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Braddock-Carey Syndrome 2	Retrognathia, Bulbous nose, Wide mouth, Cleft palate, Pierre-Robin sequence	OMIM:619981
Isotretinoin Syndrome	Depressed nasal bridge, Spina bifida occulta, Micrognathia, Cleft palate	ORPHA:2305
Marshall Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal bridg...	ORPHA:560
2Q32Q33 Microdeletion Syndrome	Dental crowding, Long philtrum, Anteverted nares, Micrognathia, Narrow mouth, Prominent nasal bri...	ORPHA:251019
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Short columella, Malar fla...	ORPHA:171839
Bartsocas-Papas Syndrome	Synostosis of joints, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Median cleft upper l...	ORPHA:1234
Osteoglophonic Dysplasia	Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Osteopenia, Delayed eruption ...	OMIM:166250
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Rhizomelic Syndrome, Urbach Type	Depressed nasal bridge, Limitation of joint mobility, Micrognathia, High palate, Cleft palate, Wi...	ORPHA:3098
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respirator...	ORPHA:244
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Broad columella, Widely spaced teeth, Open m...	OMIM:617865
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Anteve...	ORPHA:83
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip verm...	OMIM:247200
Barber-Say Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Velopharyngeal insuffi...	OMIM:209885
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Bilateral renal atrophy, Carpal osteolysis, Metacarpal ost...	OMIM:166300
Raine Syndrome	Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, High palate, Mandibul...	OMIM:259775
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Micrognathia, Malar flattening, Osteoarthritis, Glossoptosis, Cleft palate	ORPHA:166100
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Broad nasal tip, Micrognathia, Knee flexion contracture, Cleft h...	ORPHA:166016
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Warburg Micro Syndrome 1	Facial hypertrichosis, Hypertrichosis, Joint hypermobility, Kyphoscoliosis, Osteoporosis	OMIM:600118
Zechi-Ceide Syndrome	Wide nasal bridge, Cleft upper lip, Underdeveloped nasal alae, Malar flattening, Oligodontia, Cle...	OMIM:612916
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Flexion contracture, Kyphoscoliosis	OMIM:607855
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Long philtrum, Anteverted nares, Narrow mouth, Malar flattening, Joint hypermobili...	OMIM:219200
Acrodysostosis 1 With Or Without Hormone Resistance	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ...	OMIM:101800
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Abnormal lung lobation, Tr...	ORPHA:3301
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Downturned corners o...	ORPHA:391372
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit...	OMIM:602400
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Micrognathia, Hypospadias, Clinodactyly	OMIM:300934
Oculomaxillofacial Dysostosis	Wide nasal bridge, Abnormality of the dentition, Tessier cleft, Abnormality of the nose, Underdev...	ORPHA:1794
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe...	OMIM:156550
Emanuel Syndrome	Broad jaw, Dental crowding, Long philtrum, Intestinal malrotation, Micrognathia, Recurrent sinusi...	OMIM:609029
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Volvulus, Micrognathia, Short nose	OMIM:617802
17P13.3 Microduplication Syndrome	High palate, Narrow mouth, Short nose, Wide nose	ORPHA:217385
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology	ORPHA:1513
Short Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, U...	OMIM:269880
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline	OMIM:227260
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Joint hypermobility, Short neck, High palate, Scoliosis, Th...	OMIM:619542
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short lingual frenulum, Short hard palate, High palate, Short nose, Downturned corn...	OMIM:180700
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose	ORPHA:438178
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair	ORPHA:79133
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Pulmonary hypoplasia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diame...	OMIM:616897
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Progressive congenital scoliosis, Recurrent pneumonia, Platyspondyly, Osteopenia, Resp...	OMIM:225400
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,...	ORPHA:254875
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Bowing of the long bones, Flat acetabular roof, Sparse hair, Hypospadias, P...	OMIM:614091
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Turnpenny-Fry Syndrome	Pectus carinatum, Small hand, Narrow chest, Dental malocclusion, Clinodactyly, Recurrent respirat...	OMIM:618371
Weiss-Kruszka Syndrome	Broad philtrum, Prominent nasal tip, Exaggerated cupid's bow, Short nose	ORPHA:502430
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Low posterior hairline, Cervic...	ORPHA:2345
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair, Palmoplantar keratoderma	OMIM:620415
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma...	ORPHA:2521
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Abnormality of the dentition, Conical tooth, Solitary median maxillary central inc...	ORPHA:952
Acrofacial Dysostosis, Catania Type	Carious teeth, Prominent nose, Micrognathia, Malar flattening, Spina bifida occulta, Cleft palate	OMIM:101805
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Fibrodysplasia Ossificans Progressiva	Alopecia, Short 1st metacarpal, Small cervical vertebral bodies, Respiratory insufficiency, Ectop...	OMIM:135100
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar...	OMIM:604536
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Atelosteogenesis Type I	Laryngotracheal stenosis, Narrow chest, Pulmonary hypoplasia, Rhizomelia, Thoracic hypoplasia, Ab...	ORPHA:1190
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses...	OMIM:208500
Skraban-Deardorff Syndrome	Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio...	OMIM:617616
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, High palate, Flexion contracture, Short nose	OMIM:218000
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Micrognathia, Cleft palate	ORPHA:1779
Restrictive Dermopathy	Thin ribs, Osteopenia, Sparse eyebrow, Short nail, Natal tooth, Arthrogryposis multiplex congenit...	ORPHA:1662
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Synostosis of carpal bones, Humeror...	OMIM:101200
Cleidocranial Dysplasia 1	High, narrow palate, Narrow palate, Wide nasal bridge, Depressed nasal bridge, Absent paranasal s...	OMIM:119600
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin...	ORPHA:2902
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair	ORPHA:2251
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Short ...	OMIM:620250
Joubert Syndrome 18	Kyphoscoliosis, Joint hypermobility, Camptodactyly, Cleft palate, Lobulated tongue	OMIM:614815
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Nasal polyposis, Recurrent sinusitis, Chronic...	OMIM:608647
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b...	ORPHA:1906
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Prominent nasal bridge, Delay...	OMIM:619269
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Short thorax, Arthrogryposis multiplex congenita, Pulmon...	OMIM:601809
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Broad philtrum...	ORPHA:398156
Kleefstra Syndrome	Limitation of joint mobility, Delayed eruption of teeth, Downturned corners of mouth, Tracheomala...	ORPHA:261494
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Abnormal hair morphology, Parakeratosis, H...	OMIM:604117
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Abnormal thorax morphology, Pleural effusion, D...	ORPHA:50251
6Q25 Microdeletion Syndrome	Wide nasal bridge, Long philtrum, Camptodactyly of finger, Micrognathia, Malar flattening, High p...	ORPHA:251056
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Horizontal ribs, Death in infancy, Short ribs, Lateral clavicle hook	OMIM:617405
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m...	OMIM:616867
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Microdontia,...	ORPHA:782
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Long philtrum, Micrognathia, Malar flattening, Short nose	ORPHA:93328
Oliver-Mcfarlane Syndrome	Long eyelashes, Long eyebrows, Alopecia, Sparse hair	OMIM:275400
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair	OMIM:618625
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, 3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Barber-Say Syndrome	Wide nasal bridge, Delayed eruption of teeth, Bulbous nose, Anteverted nares, Wide mouth	ORPHA:1231
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption	OMIM:606893
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Microretrognathia, Ureteral agenesis, Neonatal death, 2-3 toe syndactyly, Renal...	OMIM:236500
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Joint stiffness, Micrognathia, Abnor...	ORPHA:245
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Limited elbow flexion, Respiratory failure, Limited knee flexion/extension, Respiratory insuffici...	ORPHA:266
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon...	ORPHA:174
Fetal Akinesia Deformation Sequence 1	Thin ribs, Congenital contracture, Thoracic hypoplasia, Camptodactyly of finger, Elbow contractur...	OMIM:208150
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Kyphoscoliosis	OMIM:605588
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Thin vermilion border, Reduced bone mineral density, Narrow mouth, Short nose	ORPHA:2370
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Arthrogryposis-like hand anomal...	ORPHA:369891
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia	ORPHA:90117
Burn-Mckeown Syndrome	Bifid uvula, Choanal atresia, Bilateral choanal atresia, Cleft upper lip, Bilateral choanal atres...	OMIM:608572
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Gout, De...	OMIM:137920
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Underdeveloped nasal alae, Cleft mandible, Bulbous nose, Sho...	ORPHA:364577
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ...	OMIM:602196
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Hypoplasia of the maxilla, Abnormality of canine, Abnormality of the dentition...	ORPHA:363417
Richieri Costa-Da Silva Syndrome	Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Kyphoscoliosis...	ORPHA:3101
Fryns Syndrome	Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Microretrognathia, Chyl...	OMIM:229850
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormal hair morphol...	OMIM:250460
Achondroplasia	Radial bowing, Genu varum, Thoracic hypoplasia, Femoral bowing, Limited elbow extension, Ulnar bo...	OMIM:100800
Schwartz-Jampel Syndrome, Type 1	Platyspondyly, Joint contracture of the hand, Cervical kyphosis, Shoulder flexion contracture, Lu...	OMIM:255800
Cleft Velum	Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Albinism, Osteoporosis, Hypopigmentation of hair, Kyphosis	ORPHA:2786
Braddock Syndrome	Neonatal respiratory distress, Micrognathia, Missing ribs, Abnormal hair pattern, Short neck, Hem...	ORPHA:52047
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Micrognathia, Thin upper lip v...	ORPHA:329178
Distal Deletion 10P	Wide nasal bridge, Joint stiffness, Micrognathia, Ectopic anus, Convex nasal ridge, Anal atresia,...	ORPHA:1580
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Short palm	ORPHA:168555
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Micrognathia, Decreased sk...	ORPHA:93267
Congenital Myopathy 14	Elbow flexion contracture, Hip contracture, Knee flexion contracture, Death in infancy, Respirato...	OMIM:618414
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Micrognathia, Abnormal cortical bone morphology, ...	ORPHA:2097
Chromosome 22Q11.2 Deletion Syndrome, Distal	Underdeveloped nasal alae, Malar flattening, Thin upper lip vermilion, Smooth philtrum, Cleft palate	OMIM:611867
Intellectual Developmental Disorder, X-Linked 111	Kyphoscoliosis	OMIM:301107
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micrognathia, Open ...	OMIM:309520
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat...	ORPHA:1798
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Progressive clavicular acroosteolysis, Micrognathia, Narrow mouth, Death in earl...	OMIM:608612
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Flexion contracture of...	OMIM:193700
Larsen-Like Syndrome	Dental malocclusion, Malar flattening, Absent nasal bridge, Joint hypermobility, Cleft palate, Wi...	OMIM:608545
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Malar prominence, Micrognathia, Short neck, Hyperlordosis, Abnormal...	ORPHA:2522
Femoral-Facial Syndrome	Long philtrum, Micrognathia, Thin upper lip vermilion, Radioulnar synostosis, Orofacial cleft, Sh...	ORPHA:1988
Mucopolysaccharidosis, Type Iva	Platyspondyly, Pectus carinatum, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:253000
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy	OMIM:254120
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Decreased cervical spine mobility, Multiple joint contractures, Scolio...	ORPHA:370968
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Early balding, Frontal balding, Hyperextensibility of the finger joints, Lumbar hyperlordosis, Fl...	ORPHA:3041
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne...	ORPHA:2032
Acrocraniofacial Dysostosis	Choanal atresia, Anteverted nares, Micrognathia, Prominent nasal bridge, Advanced eruption of tee...	ORPHA:949
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Advanced tarsal ossification, Micrognath...	OMIM:215045
Atelosteogenesis, Type Iii	Depressed nasal bridge, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate	OMIM:108721
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Joint hypermobility, Multiple renal cy...	ORPHA:3033
Cornelia De Lange Syndrome 5	Depressed nasal bridge, Broad nasal tip, Retrognathia, Downturned corners of mouth, Long philtrum...	OMIM:300882
Familial Osteodysplasia, Anderson Type	Tooth malposition, Depressed nasal ridge, Carious teeth, Failure of eruption of permanent teeth, ...	ORPHA:2769
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Respiratory distress, Cyan...	OMIM:619793
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Everted lower ...	ORPHA:261144
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Respiratory insufficiency, Abnormality of the temporomandibular joint, Intercostal m...	ORPHA:258
Nemaline Myopathy 8	Flexion contracture, Respiratory failure, Death in infancy	OMIM:615348
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Overhanging nasal tip, Short philtrum, Access...	OMIM:619142
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Keipert Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi...	ORPHA:2662
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Farber Disease	Recurrent upper respiratory tract infections, Short toe, Atelectasis, Respiratory insufficiency, ...	ORPHA:333
Holt-Oram Syndrome	Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Absent thumb, Joint stiffness, Do...	ORPHA:392
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Broad nasal tip, Downturned corners of mouth, Cleft upper lip, Anteriorly plac...	OMIM:239300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Concave nasal ridge, Short philtrum, Natal tooth, Cleft palate	OMIM:617337
Mucopolysaccharidosis-Plus Syndrome	Death in childhood, Low posterior hairline, Nephrotic syndrome, Renal tubular atrophy, Clubbing, ...	OMIM:617303
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Malar flattening, Sinu...	OMIM:242860
Zechi-Ceide Syndrome	Wide nasal bridge, Cleft lip, Downturned corners of mouth, Oligodontia, Thin vermilion border, Sh...	ORPHA:217017
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Retrognathia, Thick nasal alae, Micrognathia, Short nose	ORPHA:163961
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypodontia, Delayed eruption of teeth, Oligodontia	ORPHA:447896
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Abnormal renal corticomedullary differentiation, Flexion contracture, Renal...	OMIM:616733
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ...	ORPHA:2050
Autosomal Recessive Spondylocostal Dysostosis	Short thorax, Abnormal form of the vertebral bodies, Respiratory insufficiency, Camptodactyly of ...	ORPHA:2311
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis...	ORPHA:35173
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Sparse scalp hair, Cutis marmorata, Aplasia/Hypoplasia of the pa...	OMIM:135900
Terminal Osseous Dysplasia	Camptodactyly of finger, Depressed nasal tip, Malar flattening, Multiple joint contractures, Abno...	OMIM:300244
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Capitate-hamate fusion, Retrognathia, Cleft upper lip, C...	OMIM:206920
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met...	OMIM:187600
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Aspergillosis	Pneumonia, Abnormality of the vertebral column, Ground-glass opacification, Osteomyelitis, Pleura...	ORPHA:1163
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Increased bone mineral density, Long eyelashes, Reduced bone mineral density, Kyph...	OMIM:614856
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Absent frontal ...	OMIM:244400
Mitochondrial Complex I Deficiency, Nuclear Type 8	Stiff neck, Kyphoscoliosis	OMIM:618230
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Gillessen-Kaesbach-Nishimura Syndrome	Frontotemporal hypertrichosis, Retrognathia, Abnormal lung lobation, Micrognathia, Decreased skul...	OMIM:263210
Odontotrichoungual-Digital-Palmar Syndrome	Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border	OMIM:601957
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Delayed eruption of teeth, Anteriorly placed anus, Agenesis of permanent ...	OMIM:268400
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Carious teeth, Sandal gap, Re...	OMIM:617102
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Micrognathia, Prominent nasal bridge, Oligodontia, Hypodo...	OMIM:613823
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Sparse bone trabeculae, Enam...	OMIM:264700
Pneumocystosis	Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti...	ORPHA:723
Trigonocephaly 1	High, narrow palate, Wide nasal bridge, Meckel diverticulum, Long philtrum, Craniosynostosis, Sho...	OMIM:190440
Acromicric Dysplasia	Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Joint stiffness, Narrow...	ORPHA:969
Roussy-Lévy Syndrome	Scoliosis, Kyphoscoliosis	ORPHA:3115
Joint Laxity, Short Stature, And Myopia	Joint hypermobility, Cervical kyphosis, Kyphoscoliosis	OMIM:617662
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Malar flattening, Ectopic anus, Short philtrum, Mandibular prognathi...	ORPHA:94066
Contractural Arachnodactyly, Congenital	Osteopenia, Congenital kyphoscoliosis, Elbow flexion contracture, Limited elbow extension, Hip co...	OMIM:121050
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Supernumerary nipple, 2-3 finger syndactyly, Broad toe, Short greater sciatic notch,...	OMIM:312870
Intellectual Developmental Disorder, Autosomal Recessive 39	Synophrys, Kyphoscoliosis	OMIM:615541
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Stippling of the epiph...	ORPHA:79345
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia, Microglossia, Prominent nasal bridge, Narrow mouth,...	ORPHA:1307
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Conical tooth, Dental malocclusion, Thick nasal alae, Persistence of primary t...	OMIM:618727
Cockayne Syndrome Type 2	Widely spaced primary teeth, Hypoplasia of the primary teeth, Anodontia, Delayed eruption of prim...	ORPHA:90322
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Alopecia of scalp, Kyphoscoliosis, Cervical spondylosis, Back pain	ORPHA:199354
Lethal Congenital Contracture Syndrome 1	Abnormal thorax morphology, Micrognathia, Neonatal death, Widening of cervical spinal canal, Arth...	OMIM:253310
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Multiple suture craniosynostosis, Convex nasal ridge,...	ORPHA:207
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Craniosynostosis, Short nose	ORPHA:93329
Mucopolysaccharidosis, Type Iiic	Coarse hair, Dense calvaria, Hypertrichosis, Joint stiffness, Kyphoscoliosis, Hirsutism, Ovoid th...	OMIM:252930
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis	ORPHA:85193
Turner Syndrome Due To Structural X Chromosome Anomalies	Genu valgum, Micrognathia, Renal hypoplasia/aplasia, Low posterior hairline, Splayed toes, Ectopi...	ORPHA:99413
Mosaic Monosomy X	Genu valgum, Micrognathia, Renal hypoplasia/aplasia, Low posterior hairline, Splayed toes, Ectopi...	ORPHA:99228
Monosomy X	Genu valgum, Micrognathia, Renal hypoplasia/aplasia, Low posterior hairline, Splayed toes, Ectopi...	ORPHA:99226
Turner Syndrome	Genu valgum, Micrognathia, Renal hypoplasia/aplasia, Low posterior hairline, Splayed toes, Ectopi...	ORPHA:881
Waardenburg Syndrome Type 1	Wide nasal bridge, Cleft upper lip, Underdeveloped nasal alae, Tented upper lip vermilion, Agangl...	ORPHA:894
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Abnormal hair morphology, Hyperextensibility of the finger joints, Inc...	OMIM:231070
Charcot-Marie-Tooth Disease Type 1A	Kyphoscoliosis	ORPHA:101081
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Tracheomalacia, Ante...	OMIM:217980
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Wide nose, Cleft palate, Short nose	OMIM:614261
Zimmermann-Laband Syndrome 1	Wide nasal bridge, Broad nasal tip, Delayed eruption of teeth, Downturned corners of mouth, Long ...	OMIM:135500
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Micrognathia, Acetabu...	ORPHA:1143
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia	OMIM:614381
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Depressed nasal bridge, Pyloric stenosis, Anteverted nares, Micrognathia, Narrow mou...	ORPHA:96184
Intellectual Developmental Disorder, X-Linked 30	Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v...	OMIM:300558
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Mandibular prognathia, Short nose, Wide nose	ORPHA:2831
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Malar flattening, Advanced ossification of carpal bones...	OMIM:614613
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Limitation of joint mobility, Biconcave vertebral bodies, Kyphoscoliosi...	OMIM:236200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Respiratory insufficiency, Abnormal lung lobation, D...	ORPHA:1120
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog...	OMIM:194300
Acrocallosal Syndrome	Everted upper lip vermilion, Narrow mouth, Open mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Dental crowding, Retrognathia, Long philtrum, Bulbous ...	OMIM:617061
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Otopalatodigital Syndrome Type 1	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Synostosis of carpal bon...	ORPHA:90650
Baker-Gordon Syndrome	Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose	OMIM:618218
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Sparse eyebrow, Horizontal ri...	OMIM:616300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Thin upper lip vermilion, Abnormal no...	ORPHA:1295
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Persistence of primary teeth, Increased susceptibil...	OMIM:619752
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta...	OMIM:601216
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Enamel hypoplasia, Abnormal rib morphology	ORPHA:2643
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Convex nasal ridge, Abnormal palate morphology	ORPHA:1540
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man...	OMIM:602483
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Abnormal nasal morphology, Non-midl...	ORPHA:236
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Kyphoscoliosis	OMIM:607831
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Apical pulmonary opacity, Arthralgia/arthritis, Sinusitis, ...	ORPHA:449280
Orofaciodigital Syndrome X	Depressed nasal bridge, Coalescence of tarsal bones, Retrognathia, Cleft palate	OMIM:165590
Neuralgic Amyotrophy	Sprengel anomaly, Acrocyanosis, Scapular winging, Syndactyly	ORPHA:2901
Poland Syndrome	Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of the sternum, Renal hypoplasia/a...	ORPHA:2911
Intermediate Nemaline Myopathy	Abnormal thorax morphology, Multiple prenatal fractures, Flexion contracture, Arthrogryposis mult...	ORPHA:171433
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Bulb...	OMIM:618571
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Anteverte...	OMIM:614701
Seckel Syndrome 8	Kyphoscoliosis	OMIM:615807
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Limitation of joint mobility, Micromelia, Synostosis of carpal b...	ORPHA:93351
Temple Syndrome	Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Joint hypermobility, High pa...	OMIM:616222
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Downturned corners of mouth, Intestinal malrotation, Narrow nose,...	OMIM:617602
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Osteopenia, Sparse eyebrow, Joint stiffness, Micrognathia, Nail dystrophy, Death in ch...	OMIM:619127
Meier-Gorlin Syndrome 3	Micrognathia, Patellar aplasia, Aplasia/Hypoplasia of the patella, Hypospadias, Genu varum, Spars...	OMIM:613803
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Peho Syndrome	Tented upper lip vermilion, Open mouth, Retrognathia, Short nose	OMIM:260565
Orofaciodigital Syndrome Ii	Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Depressed nasal bridge, Lobulated to...	OMIM:252100
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Anteverted nares, Joint hypermobil...	OMIM:305400
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Coarse hair, Dense calvaria, Joint stiffness, Hirsu...	OMIM:252900
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Micrognathia, Mal...	OMIM:614524
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the ...	ORPHA:1786
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Short n...	OMIM:615716
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Flexion contracture, Short nose	OMIM:618379
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car...	ORPHA:3238
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Depressed nasal bridge, Dental crowding, Delayed eruption of teeth, Micrognathia, Na...	OMIM:300990
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Retrognathia, Long philtrum, Bulbous nose, Malar flattening, Thin vermilion ...	ORPHA:485405
Cooper-Jabs Syndrome	Respiratory insufficiency, Camptodactyly of finger, Reduced bone mineral density, Malar flattenin...	ORPHA:1488
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short nose, Downturned corners of mouth, Absent uvula, Thin upper lip vermilion, Or...	OMIM:268310
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Micrognathia, Prominent nasal bridge, Glossoptosis, Cleft palate, Hyperextensi...	OMIM:618356
Andersen-Tawil Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Bulb...	ORPHA:37553
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Convex ...	ORPHA:93262
Tetraploidy	Radial club hand, Micrognathia, Convex nasal ridge, Short philtrum, Cleft palate	ORPHA:3305
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow chest, Micromel...	ORPHA:85166
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Carious teeth, Del...	ORPHA:221016
Craniorachischisis	Bifid sternum	ORPHA:63260
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Odontomicronychial Dysplasia	Abnormality of the dentition, Carious teeth, Premature eruption of permanent teeth, Premature los...	ORPHA:1811
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Micrognathia, Lower limb undergrowth, Abnormal rib morphology, Abnormally ossified vertebrae, Pul...	ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordosis...	OMIM:271650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Pulmonary hypoplasia, Coarse hair, Retrognathia, Contracture...	ORPHA:83617
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Micrognathia, Malar ...	OMIM:620157
Roussy-Levy Hereditary Areflexic Dystasia	Kyphoscoliosis	OMIM:180800
Trisomy 8Q	Wide nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Abnormal oral frenulum...	ORPHA:1752
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Arthrogryposis multiplex congenita, Micrognathia, Multiple joint contractures, Femur fr...	OMIM:618291
Baraitser-Winter Syndrome 1	Wide nasal bridge, Retrognathia, Long philtrum, Cleft upper lip, Anteverted nares, Thin upper lip...	OMIM:243310
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose	OMIM:170100
Microphthalmia, Syndromic 13	Kyphoscoliosis	OMIM:300915
Potocki-Shaffer Syndrome	Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Short philtrum, Short ...	OMIM:601224
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Broad columella, Thick nasal alae, Bulbous nose, Depressed nasal tip, Cleft soft pa...	ORPHA:293725
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Respiratory ins...	OMIM:276950
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Chst3-Related Skeletal Dysplasia	Flexion contracture, Delayed eruption of teeth, Long philtrum	ORPHA:263463
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Anteverted nares, Micrognathia, Malar flattening, Deep philtrum, Esophageal atre...	OMIM:610536
Carey-Fineman-Ziter Syndrome	Long philtrum, Aplasia/Hypoplasia of the tongue, Anteverted nares, Micrognathia, Short nose, Thin...	ORPHA:1358
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Broad nasal tip, Cleft upper lip, Micrognathia, Narrow mouth, Bifid nose, Cleft pa...	OMIM:239800
Hennekam Syndrome	Abnormal oral mucosa morphology, Wide nasal bridge, Depressed nasal bridge, Delayed eruption of t...	ORPHA:2136
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Wide nasal bridge, Retrognathia, Long philtrum, Contractures of the large jo...	ORPHA:96092
Meckel Syndrome 14	Pulmonary hypoplasia, Postaxial foot polydactyly, Microretrognathia, Retrognathia, Micrognathia, ...	OMIM:619879
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short philtru...	ORPHA:521445
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia	ORPHA:93950
Becker Nevus Syndrome	Pectus carinatum, Micromelia, Supernumerary nipple, Rib fusion, Supernumerary ribs, Spina bifida ...	ORPHA:64755
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Decre...	OMIM:614592
Martsolf Syndrome 1	Micrognathia, Low posterior hairline, Broad fingertip, Finger joint hypermobility, Short metacarp...	OMIM:212720
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ...	OMIM:613443
Microphthalmia, Syndromic 8	Widely-spaced maxillary central incisors, Cleft upper lip, Orofacial cleft, Mandibular prognathia...	OMIM:601349
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Underdeveloped nasal alae, Narrow nose,...	OMIM:164200
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Van Maldergem Syndrome 1	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners...	OMIM:601390
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Elbow flexion contracture, Furrowed tongue, Bulbo...	OMIM:615065
Uruguay Faciocardiomusculoskeletal Syndrome	Joint contracture of the hand, Thick eyebrow, Kyphoscoliosis, Limited elbow movement, Camptodacty...	OMIM:300280
Dubowitz Syndrome	Wide nasal bridge, Carious teeth, Broad nasal tip, Velopharyngeal insufficiency, Delayed eruption...	OMIM:223370
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Pulmonary hypoplasia, Aplasia/Hypoplasia of the sacrum, R...	ORPHA:3027
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Narrow mouth, Joint hypermobility, Orofacial cleft, Odo...	ORPHA:77301
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morpholo...	ORPHA:439822
Central Core Disease	Joint hypermobility, Multiple joint contractures, Kyphoscoliosis	ORPHA:597
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent to...	OMIM:308050
Tetrasomy 5P	Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Short nose, High palate, Wide a...	ORPHA:3309
Dubowitz Syndrome	Abnormality of the dentition, Depressed nasal bridge, Anal stenosis, Delayed eruption of teeth, M...	ORPHA:235
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Microdontia, Hypodontia, Everted low...	OMIM:601499
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathia, Narrow mouth, Oligodo...	ORPHA:391408
3Mc Syndrome 2	Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Depressed nasal tip, Prominent n...	OMIM:265050
Renpenning Syndrome	High, narrow palate, Broad columella, Macrodontia, Prominent nose, Joint stiffness, Narrow mouth,...	ORPHA:3242
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Anteverted nares, Malar flattening, Protruding tongue,...	OMIM:610253
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Underdeveloped nasal alae, Joint stiffness, Micrognathia, Cleft palate	ORPHA:2516
Dihydropyrimidine Dehydrogenase Deficiency	Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Anteverted nares, Open mouth, Pr...	ORPHA:1675
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Respiratory failure, Spinal rigidity	OMIM:620326
Marshall Syndrome	Macrodontia of permanent maxillary central incisor, Bifid uvula, Depressed nasal bridge, Long phi...	OMIM:154780
Acrorenal Syndrome	Micrognathia, Cleft palate	ORPHA:971
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Anal atresia,...	ORPHA:2063
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal bridg...	OMIM:608156
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Abnormal mandible morphology, Camptodactyly of finger, Submucous cleft hard ...	ORPHA:3201
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Capitate-hamate fusion, Synostosis of carpal bones, Selective tooth agenesis, ...	OMIM:311300
Harel-Yoon Syndrome	Micrognathia, Mandibular prognathia, Short nose	OMIM:617183
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Vertebral wedging, Kyphoscoliosis	OMIM:255710
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Abnormal hair morphology, Tracheal stenosis, Abnormal thorax morphology, Hip dysplasia, Hypoplasi...	OMIM:601427
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Narrow chest, Pulmonary hypoplasia, Limitation of joint mobility, Micromelia, B...	ORPHA:1865
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the dentition, Osteopenia, Dental malocclusion, Dental crowding, Long philtrum, Ag...	ORPHA:251028
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Limb joint contracture, Alopecia, Kyphoscoliosis	OMIM:612079
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Elbow flexion contracture...	ORPHA:93360
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Carpal synostosis, Increased susceptibility to fractures, Kyphoscolios...	OMIM:615349
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Platyspondyly, Narrow chest, Micromelia, Respiratory insufficie...	OMIM:187601
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding...	OMIM:123500
Cat-Eye Syndrome	Abnormal rib morphology, Renal hypoplasia/aplasia, Hydronephrosis, Hip dysplasia, Abnormal locali...	ORPHA:195
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Underdeveloped nasal alae, Midline ...	OMIM:229400
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth, Arthritis	ORPHA:375
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Joint stiff...	ORPHA:93308
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc...	OMIM:129400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Retrognathia, Joint contracture, High palate, Short nose	OMIM:618005
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Deep ph...	OMIM:617808
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Narrow palate, Hypoplasia of the maxilla, Depressed nasal bridge, De...	OMIM:614188
Glass Syndrome	Generalized osteoporosis, Conical tooth, Broad nasal tip, Dental crowding, Long philtrum, Bulbous...	OMIM:612313
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia, Short lo...	OMIM:618845
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Micrognathia, Tented upper lip vermilion, Deep philtrum...	ORPHA:314655
Robinow Syndrome	Flared nostrils, Tooth malposition, Depressed nasal bridge, Broad nasal tip, Dental malocclusion,...	ORPHA:97360
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Smooth philtrum, Thin vermilion border, Short nose	ORPHA:1920
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Retrognathia, Atelectasis,...	OMIM:613177
Fg Syndrome 5	Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Short nose	OMIM:300581
Gapo Syndrome	High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver...	OMIM:230740
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Distal Xq28 Microduplication Syndrome	Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Dental crowding, Recurrent upper respirato...	ORPHA:293939
Anauxetic Dysplasia 2	Sparse hair, Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Macroglossia, Flex...	OMIM:617396
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir...	OMIM:187760
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Carious teeth, Abnormal rib morphology, Spinal canal stenosis, A...	ORPHA:582
Moebius Syndrome	Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis...	OMIM:157900
Rahman Syndrome	Camptodactyly, High anterior hairline, Kyphoscoliosis	OMIM:617537
Braddock-Carey Syndrome 1	Wide nasal bridge, Anteriorly placed anus, Anteverted nares, Enamel hypoplasia, Everted lower lip...	OMIM:619980
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod...	ORPHA:99931
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u...	ORPHA:887
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses, Micromelia, S...	OMIM:608728
Chitayat Syndrome	Tracheomalacia, Abnormal pulmonary interstitial morphology, Respiratory distress, Hallux valgus, ...	OMIM:617180
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Long philtrum, Intestinal malrotation, Prominent nasal bridge, Limited elbow e...	ORPHA:401935
Charcot-Marie-Tooth Disease, Type 4K	Kyphoscoliosis	OMIM:616684
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormality of the ure...	ORPHA:1834
Kabuki Syndrome 2	Broad nasal tip, Natal tooth, Dental malocclusion, Depressed nasal tip, Micrognathia, Short colum...	OMIM:300867
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Schilbach-Rott Syndrome	Bifid uvula, Prominent nose, Micrognathia, Narrow mouth, Submucous cleft hard palate, Long nose	OMIM:164220
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Coarse hair, Dense calvaria, Joint stiffness, Hirsu...	OMIM:252920
9q subtelomeric deletion syndrome	Anteverted nares, Protruding tongue, Short nose	DECIPHER:52
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Muscular Dystrophy, Congenital, 1B	Achilles tendon contracture, Respiratory failure, Spinal rigidity	OMIM:604801
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
Oligodontia-Colorectal Cancer Syndrome	Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair	OMIM:608615
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, Camptodactyly of finger...	ORPHA:2215
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla, Urinary bladder sphincter dysfunction,...	OMIM:300266
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Unilateral cleft lip, ...	OMIM:610828
Desmosterolosis	Hypoplastic nasal bridge, Joint contracture of the hand, Anteverted nares, Micrognathia, Alveolar...	OMIM:602398
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair	ORPHA:3363
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Sparse eyebrow, Sparse eyelashes, Kyphoscoliosis, Joint hypermobility, Flexion contra...	ORPHA:75496
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis	OMIM:300886
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, ...	ORPHA:2180
Cenani-Lenz Syndrome	High, narrow palate, Synostosis of joints, Synostosis of carpal bones, Abnormal dental enamel mor...	ORPHA:3258
Shwachman-Diamond Syndrome 1	Narrow chest, Nephrocalcinosis, Proximal femoral epiphysiolysis, Respiratory distress, Metaphysea...	OMIM:260400
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Uretera...	ORPHA:2437
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Micrognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Distal...	OMIM:619833
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Choanal atresia, Natal tooth, Depressed nasal bridge, Anteriorly plac...	OMIM:123790
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Sparse scalp hair	ORPHA:1660
Congenital Disorder Of Glycosylation, Type 2V	Wide nasal bridge, Retrognathia, Underdeveloped nasal alae, Bulbous nose, Thin upper lip vermilio...	OMIM:619493
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Thick lower lip vermilion, Persistence of prim...	OMIM:600002
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, High palate, Mandibular prognathia	OMIM:262190
Neuropathy, Congenital Hypomyelinating, 3	Retrognathia, Respiratory insufficiency, Micrognathia, Neonatal death, Limb joint contracture, Fl...	OMIM:618186
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Genu valgum, Bell-shaped thorax, Micrognathia, Broad phalanx, Tho...	ORPHA:56304
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Chylothorax, Death in childhood, Death in infancy, Thoracic scolio...	OMIM:620278
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Prominent nose, Abnormal cortical bone morphology, Prominence of the premaxill...	OMIM:614886
Rhizomelic Chondrodysplasia Punctata, Type 2	Wide nasal bridge, Depressed nasal bridge, Osteopenia, Anteverted nares, Micrognathia, Epiphyseal...	OMIM:222765
Sotos Syndrome	High, narrow palate, Narrow palate, Depressed nasal bridge, Broad nasal tip, Enlarged naris, Ante...	OMIM:117550
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Tac...	OMIM:616414
Zimmermann-Laband Syndrome	Bifid uvula, Bulbous nose, Micrognathia, Wide mouth, Joint hypermobility, Gingival fibromatosis, ...	ORPHA:3473
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re...	OMIM:610910
Desmosterolosis	Bifid uvula, Depressed nasal bridge, Retrognathia, Abnormality of the nose, Intestinal malrotatio...	ORPHA:35107
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic...	ORPHA:60025
Schneckenbecken Dysplasia	Stillbirth, Short nose, Malar flattening, Advanced ossification of carpal bones, Advanced tarsal ...	OMIM:269250
Bainbridge-Ropers Syndrome	Micrognathia, Everted lower lip vermilion, High palate, Short nose, Broad nasal tip, Thin upper l...	OMIM:615485
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, High palate, Rectovaginal fistula, Choanal atresia, Hypopl...	ORPHA:861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Kyphosis, Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scolio...	OMIM:606612
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Flexion contracture, Abnormal pattern of ...	ORPHA:77260
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Flexion contracture, Elbow flexion contracture, Multiple joint con...	ORPHA:70
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Osteomalacia, Increased susc...	ORPHA:289157
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Joint contracture...	OMIM:201000
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Sparse lateral eyebrow, Vertebral compression fracture, Kyphoscoliosis, Mu...	OMIM:618644
Foxg1 Syndrome	Scoliosis, Kyphoscoliosis	ORPHA:561854
Miller-Dieker Syndrome	Abnormal upper lip morphology, Anteverted nares, Short nose	ORPHA:531
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Low posterior hairline, Vertebral segmentation defect, Short neck, Abnormal rib morphology	ORPHA:2578
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Anteverted nares, Micr...	OMIM:613026
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Kyphoscoliosis, Wrist flexion contracture, Short neck, High palate, Scoliosis, Flexion contracture	OMIM:300055
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Cupped ribs, Beaking of v...	OMIM:609616
Leukodystrophy, Hypomyelinating, 10	Long philtrum, Bulbous nose, Anteverted nares, Malar flattening, Smooth philtrum, Thin vermilion ...	OMIM:616420
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Long philtrum, Underdeveloped nasal alae, Jo...	OMIM:604173
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Cyanotic episode	OMIM:610992
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Elbow flexion contracture, Kyphoscoliosis, Sho...	OMIM:184252
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Camptodactyly of finger, Bulbous nose, Anteverted nares, Open mouth, Absent na...	ORPHA:261211
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Pectus carinatum, Recurrent pneumonia, Sparse eyebrow, Arthrogryposis multiplex congenita, Fractu...	ORPHA:496641
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Thoracic hypoplasia, Upper limb undergrowth	OMIM:613124
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel mo...	ORPHA:1812
Desbuquois Dysplasia 1	Depressed nasal bridge, Microretrognathia, Long philtrum, Advanced tarsal ossification, Narrow mo...	OMIM:251450
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Neonatal death, Camptodactyly, Thin ...	OMIM:610015
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Depressed nasal bridge, Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Absent nasal b...	OMIM:617925
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo...	ORPHA:228396
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Depressed nasal bridge, Thick lower lip vermilion, Open mouth, Submucous cleft hard ...	OMIM:617412
Frontofacionasal Dysplasia	Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, D...	ORPHA:1791
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Hypodontia, Anal atresia, High palate, Short nose	OMIM:616854
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Joint hypermobility, Camptodactyly, High palate, Sh...	OMIM:615539
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis, Respiratory insufficiency	ORPHA:1164
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Congenital Diaphragmatic Hernia	Respiratory distress, Prominent sternum, Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Brown-Vialetto-Van Laere Syndrome 2	Scoliosis, Kyphoscoliosis	OMIM:614707
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Widely spaced teeth, Thick lower lip ve...	OMIM:309900
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Long philtrum, Thick vermilion border	ORPHA:833
Lymphangiectasia, Intestinal	Abnormal hair morphology, Prominent floating ribs, Stillbirth	OMIM:152800
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho...	ORPHA:369950
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Dental crowding, Persistence of primary teeth, Hiat...	OMIM:619769
Ellis-Van Creveld Syndrome	Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Capitate-hamate fusion, Abno...	OMIM:225500
Choanal Atresia	Tracheomalacia, Respiratory distress, Cyanosis, Chronic sinusitis, Polydactyly, Craniosynostosis,...	ORPHA:137914
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Depressed nasal bridge, Joint contracture of the hand, Limitation o...	ORPHA:363528
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Acut...	ORPHA:36238
Pfeiffer Syndrome Type 2	Choanal atresia, Depressed nasal bridge, Limitation of joint mobility, Tracheomalacia, Intestinal...	ORPHA:93259
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Fine hair, Increased vertebral height, Kyphoscoliosis, Hyperlordos...	OMIM:616817
Congenital Muscular Dystrophy Without Intellectual Disability	Achilles tendon contracture, Kyphoscoliosis	ORPHA:370980
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, High palate, Short nose	OMIM:618774
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Sparse body hair, Abno...	ORPHA:3068
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Abnormal posturing, Horizontal ribs, Micrognathia	OMIM:614857
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Anosmia, Failure of eruption of permanent teeth, Single naris, Hy...	ORPHA:2250
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Gen...	ORPHA:321
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Natal tooth, Cranial hyperostosis, Oligodontia	OMIM:601345
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Thoracic hypo...	ORPHA:93352
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract in...	ORPHA:2970
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Natal tooth, Micrognathia, Sparse eyelashes, Absent eyelashes, Short neck, Absent eyeb...	OMIM:264090
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Micrognathia, Short nose	ORPHA:1129
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Osteopenia, Downturned corners of mouth, Malar flattening, Joint hypermob...	OMIM:618590
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Anteverted nares, Epiphyseal stippling, Macroglossia, Sh...	ORPHA:1914
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Abnormal bone ossification, Met...	ORPHA:175
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Anteverted nares, Micrognathia, Submucous cleft hard palate, Joint hypermob...	OMIM:619122
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Short nose	ORPHA:2083
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Pectus carinatum, Microretrognathia, Narrow jaw, Cyanosis, Joint hype...	ORPHA:98914
Congenital Myasthenic Syndrome	Congenital hip dislocation, Pectus carinatum, Microretrognathia, Narrow jaw, Cyanosis, Joint hype...	ORPHA:590
Severe Acute Respiratory Syndrome	Acute kidney injury, Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia	ORPHA:140896
Van Maldergem Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Osteopenia, Dental malocclu...	OMIM:615546
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Osteomalacia, Micrognathia, Respiratory insufficiency, Taurodontia, Arthritis, Rec...	ORPHA:534
Codas Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Anteverted nares, Generalized joint hypermobil...	OMIM:600373
C Syndrome	Wide nasal bridge, Fused sternal ossification centers, Anteverted nares, Micrognathia, Thick ante...	OMIM:211750
Micro Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Joint stiffness, High palate, Short philtrum, ...	ORPHA:2510
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Hig...	ORPHA:476126
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Orofaciodigital Syndrome Type 2	Wide nasal bridge, Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral inciso...	ORPHA:2751
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Thanatophoric Dysplasia	Abnormal ilium morphology, Narrow chest, Short thorax, Micromelia, Joint stiffness, Joint hypermo...	ORPHA:2655
Oculodentodigital Dysplasia	Carious teeth, Micrognathia, Non-midline cleft of the upper lip, Short nose, Abnormality of the n...	ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Sparse eyebrow, Hyperextensibility of the finger joints, Kyphos...	OMIM:309583
Agnathia-Otocephaly Complex	Microglossia, Tracheomalacia, Aglossia, Micrognathia, Narrow mouth, Mandibular aplasia, Cleft pal...	OMIM:202650
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Isolated Arrhinia	Tessier cleft, Underdeveloped nasal alae, Aplasia of the nose, Midline defect of the nose, Aplasi...	ORPHA:1134
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors	ORPHA:397973
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Microphthalmia, Lenz Type	Abnormality of the dentition, Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental...	ORPHA:568
3C Syndrome	High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Intestinal malrotation, Micrognat...	ORPHA:7
Distal Duplication 5Q	Carious teeth, Long philtrum, Micrognathia, Narrow mouth, Prominent nasal bridge, Thin vermilion ...	ORPHA:96097
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Bronchiectasis	OMIM:604571
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal rib morphology, Abnormal sternum morphology, Respiratory distress, Broad ribs, Supernume...	ORPHA:2519
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Kyphoscoliosis, Joint hypermobility, Osteoporosis, Vertebral compression fracture,...	OMIM:616507
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Long philtru...	ORPHA:404440
Wrinkly Skin Syndrome	Wide nasal bridge, Osteopenia, Carious teeth, Microretrognathia, Delayed eruption of teeth, Long ...	OMIM:278250
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Limitation of joint mobility	ORPHA:171719
Autosomal Recessive Stickler Syndrome	Micrognathia, Malar flattening, Cleft palate, Joint hypermobility	ORPHA:250984
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Retrognathia, Joint hypermobility, Prominent sternum, Flexion contracture of...	ORPHA:254528
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Sparse eyebrow, Rhizomelia, Tracheal stenosis, Stippled c...	OMIM:302960
Meckel Syndrome, Type 8	Depressed nasal ridge, Cleft upper lip, Cleft palate, Short nose	OMIM:613885
Faciocardiomelic Dysplasia, Lethal	Microglossia, Retrognathia, Micrognathia, Narrow mouth, Neonatal death	OMIM:227270
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Broad ribs, Osteomyelitis, Flaring of rib cage, Pu...	OMIM:612852
Amish Lethal Microcephaly	Limitation of joint mobility, Cleft soft palate, Micrognathia, Death in infancy, Decreased skull ...	ORPHA:99742
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Long philtrum, Bulbous nose, Anteverted nares, Wrist hypermobility, Jo...	ORPHA:481152
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Scarring alopecia of scalp, Sparse scalp hair	ORPHA:59303
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Kyphoscoliosis	OMIM:118220
Scholte Syndrome	Kyphoscoliosis	OMIM:300977
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad ribs, Micrognathia, Malar flattening, Thin bony cortex, Curly hair, Obtuse angl...	ORPHA:85184
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Anteverted nares, Prominent nasal bridge, Deep philtrum, Hyperextensible han...	OMIM:227330
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Carious teeth, Del...	ORPHA:2909
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R...	ORPHA:289176
Holoprosencephaly 9	Choanal atresia, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Do...	OMIM:610829
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Bowing of the long ...	ORPHA:90652
Juberg-Hayward Syndrome	Highly arched eyebrow, Toe syndactyly, Short thumb, Horseshoe kidney, Abnormal eyebrow morphology...	ORPHA:2319
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Elbow contracture, Hyperlordosis, Achilles tendon contracture, Scoliosis, Re...	OMIM:620249
Hurler-Scheie Syndrome	Camptodactyly of finger, Heparan sulfate excretion in urine, Joint stiffness, Tracheal stenosis, ...	OMIM:607015
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, B...	OMIM:615630
Warburg Micro Syndrome 3	Downturned corners of mouth, Micrognathia, Narrow palate, Flexion contracture, Short nose	OMIM:614222
White Forelock With Malformations	White forelock, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spina bifida occulta	ORPHA:2475
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Joint stiffness, Prominent nasal bridge, Bicoronal syn...	OMIM:619184
Multiple Mitochondrial Dysfunctions Syndrome 3	Retrognathia, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency	OMIM:615330
Keutel Syndrome	Short distal phalanx of finger, Alopecia, Calcification of cartilage, Recurrent sinusitis, Trache...	ORPHA:85202
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Depressed nasal bridge, Natal tooth, Long philtrum, Anteverted nares, Micro...	ORPHA:50945
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Hemifacial Microsomia With Radial Defects	Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami	OMIM:141400
Schinzel-Giedion Syndrome	Broad nasal tip, Delayed eruption of teeth, Retrognathia, Anteriorly placed anus, Sclerosis of sk...	ORPHA:798
Charcot-Marie-Tooth Disease, Type 4B2	Kyphoscoliosis	OMIM:604563
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Narrow mouth, Generalized joint hypermobility, Small, coni...	ORPHA:2962
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid process, ...	OMIM:253010
Smith-Kingsmore Syndrome	Depressed nasal bridge, Long philtrum, Open mouth, Thin upper lip vermilion, Smooth philtrum, Sho...	OMIM:616638
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Tessier cleft, Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Unde...	ORPHA:306542
Tonne-Kalscheuer Syndrome	Broad thumb, Fine hair, Micrognathia, Malar flattening, Brachydactyly, Micropenis, Hypospadias, P...	OMIM:300978
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla	OMIM:167730
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia	ORPHA:3032
Omodysplasia 2	Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Long philtrum, Limited elbow flexion,...	OMIM:164745
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Cleft lip, Retrognathia, Bulbous nose, Joint contractu...	OMIM:620098
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Micrognathia, Anal atresia, High palate, Pierre-Robin...	OMIM:300373
Monosomy 18P	Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, H...	ORPHA:1598
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Recurrent upper respiratory tract infections, Hypoplasia of the m...	OMIM:300534
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Respiratory insufficiency, Death in childhood, Pectus excavatum, Recurrent respirato...	OMIM:618278
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Sparse body hair, Short neck, Hemivertebrae, Abnormal rib ...	ORPHA:2234
Alfadhel Syndrome	Highly arched eyebrow, Retrognathia, Horseshoe kidney, Joint hypermobility, Nasal flaring	OMIM:620655
Congenital Myopathy 17	Narrow chest, Renal hypoplasia, Pulmonary hypoplasia, Clinodactyly, Dental malocclusion, Overlapp...	OMIM:618975
High Altitude Pulmonary Edema	Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia	ORPHA:330012
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Donnai-Barrow Syndrome	Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel, Short nose	ORPHA:2143
Distal Triplication 15Q	Dilatation of the renal pelvis, Retrognathia, Abnormal sternum morphology, Horseshoe kidney, Micr...	ORPHA:314588
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:610127
Dyggve-Melchior-Clausen Disease	Platyspondyly, Pectus carinatum, Recurrent upper respiratory tract infections, Hypoplasia of the ...	ORPHA:239
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mu...	OMIM:254210
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Neonatal death, Hydronephrosis, Hand polydactyly, Tracheoesophageal fistula, Ureth...	OMIM:314390
Mesomelic Dysplasia, Kantaputra Type	Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmentation defect, Abnormal rib ...	ORPHA:1836
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Cleft lip, Dental malocclusion, Downturned corners of ...	OMIM:616894
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Retrognathia, Downturned corners of mouth, Widely spaced teeth, Bulbous no...	OMIM:156200
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Depressed nasal ridge, Tooth agenesis, Bilateral cleft palate, Absent nasal septal cartilage, Non...	ORPHA:2003
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Genitopalatocardiac Syndrome	Micrognathia, Cleft palate, Cleft upper lip	OMIM:231060
Poland Syndrome	Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae	OMIM:173800
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Anteverted nares, Micrognathi...	OMIM:619005
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Carious teeth, Broad nasal tip, Long philtrum, Anteverted nares, Malar flattening, Generalized jo...	ORPHA:357074
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn...	OMIM:251230
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Anteverted nares, Protruding tongue, Death in childhood, Alveolar ridg...	OMIM:612938
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Long philtrum, Bulbous nose, Anteverted nares, Tented upper lip vermilion...	OMIM:614105
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor...	OMIM:613320
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo...	ORPHA:178320
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Respira...	OMIM:619334
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Hypertrichosis, Respiratory distress, Arachnodactyly, Mul...	OMIM:271225
Rhombencephalosynapsis	Microretrognathia, Anteverted nares, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistu...	ORPHA:59315
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu...	OMIM:620233
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Genu valgum, Hypophosphatem...	OMIM:618913
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis, Respiratory failure	ORPHA:79327
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Broad columella, Long philtrum, Narrow nasal bridge, Anteverted nares, Tented ...	OMIM:619383
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Cleft lip, Delayed erup...	OMIM:280000
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair	ORPHA:1264
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ...	ORPHA:1135
Dystonia-Deafness Syndrome 1	Cleft palate, Kyphoscoliosis	OMIM:607371
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Micromelia, Respirator...	ORPHA:2021
Charcot-Marie-Tooth Disease Type 4D	Kyphoscoliosis	ORPHA:99950
Trichodermodysplasia-Dental Alterations Syndrome	Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis	ORPHA:3353
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome, Acrocyanosis	OMIM:123540
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Retrognathia, Anteverted nares, Gingi...	ORPHA:363659
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Camptodactyly of finger, Kyphoscoliosis	OMIM:610756
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur...	ORPHA:2772
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Holoprosencephaly 4	Depressed nasal bridge, Depressed nasal tip, Median cleft palate, Median cleft upper lip, Absent ...	OMIM:142946
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Micrognathia	OMIM:300580
Leukodystrophy, Hypomyelinating, 3	Joint contracture, Kyphoscoliosis	OMIM:260600
Pontocerebellar Hypoplasia, Type 2E	Micrognathia, Osteoporosis, Flexion contracture, Short nose, Wide nose	OMIM:615851
Lead Poisoning	Delayed eruption of teeth, Cranial hyperostosis, Miscarriage	ORPHA:330015
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Open bite, Anteverted nares, Micrognathia, Prominent nasal bridge, Joint hypermobi...	ORPHA:1974
X-Linked Hypophosphatemia	Renal phosphate wasting, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Too...	ORPHA:89936
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Camptodactyly, High palate, Arthrogryposi...	OMIM:617822
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos...	ORPHA:199241
Crisponi/Cold-Induced Sweating Syndrome 1	Elbow flexion contracture, Limited elbow extension, Kyphoscoliosis, Short neck, Camptodactyly, Hi...	OMIM:272430
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Short tibia, Sanda...	OMIM:607143
Dystonia 31	Abnormal posturing	OMIM:619565
Marden-Walker Syndrome	High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Anteve...	OMIM:248700
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Nephrocalcinosis, Pathologic fracture, Micrognathia, Hyperphosph...	OMIM:156400
Klippel-Feil Syndrome 1, Autosomal Dominant	Low posterior hairline, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal r...	OMIM:118100
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Hypospadias, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Slender...	ORPHA:2554
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Choanal atresia, Natal tooth, Tracheomalacia, ...	ORPHA:2108
Becker Nevus Syndrome	Cervical ribs, Hemivertebrae, Unilateral breast hypoplasia, Pectus excavatum, Scoliosis	OMIM:604919
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognath...	ORPHA:989
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Stickler Syndrome, Type I	Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Joint stiffness, Malar flatt...	OMIM:108300
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory distress, Micrognathia...	OMIM:608799
Ataxia-Oculomotor Apraxia Type 4	Kyphoscoliosis	ORPHA:459033
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Micrognathia, Mandibular prognathia, Short nose	ORPHA:496790
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Renal agenesis, Micrognathia, Sprengel anomaly, Abnormal rib morpholog...	OMIM:601076
Phaver Syndrome	Short thumb, Abnormal form of the vertebral bodies, Camptodactyly of finger, Joint stiffness, But...	ORPHA:2876
Campomelia, Cumming Type	Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, Death in ...	ORPHA:1318
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Eem Syndrome	Absent eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:1897
Orofaciodigital Syndrome Type 4	Micrognathia, Perineal fistula, Rectal atresia, Anal atresia, Rectovaginal fistula, Short nose, W...	ORPHA:2753
Treacher Collins Syndrome 3	Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate	OMIM:248390
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cartilage morpholog...	ORPHA:2347
Melnick-Needles Syndrome	Tooth malposition, Delayed eruption of teeth, Micrognathia, Limited elbow extension, Osteolytic d...	OMIM:309350
Localized Junctional Epidermolysis Bullosa	Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary...	ORPHA:251393
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno...	ORPHA:137888
Larsen-Like Syndrome, Lethal Type	Neonatal death, Abnormal cartilage matrix, Tracheomalacia, Pulmonary hypoplasia	OMIM:245650
Stickler Syndrome	Open bite, Micrognathia, Short hard palate, Short nose, Depressed nasal ridge, Hypoplasia of the ...	ORPHA:828
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Microretrognathia, Decreased calvarial ossif...	OMIM:616229
Cerebrooculofacioskeletal Syndrome 4	Abnormality of the vertebral column, Camptodactyly of finger, Elbow flexion contracture, Knee fle...	OMIM:610758
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Respiratory distr...	OMIM:231680
Peho Syndrome	Limitation of joint mobility, Abnormal upper lip morphology, Gingival overgrowth, Open mouth, Mal...	ORPHA:2836
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Mandibular prognathia, Microretrognathia, Tracheomalacia, Atelectasis, Res...	OMIM:620371
Crane-Heise Syndrome	Depressed nasal bridge, Joint stiffness, Anteverted nares, Micrognathia, Abnormally ossified vert...	ORPHA:1512
Ollier Disease	Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Trisomy 17P	Thick nasal alae, Flexion contracture, Prominent nose, Micrognathia, Narrow mouth, Malar flatteni...	ORPHA:261290
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Long philtrum, Proboscis, Anteverted nares, Prominent...	OMIM:605627
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Micrognathia, Short...	ORPHA:96334
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion...	OMIM:619854
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Kyphoscoliosis	OMIM:118200
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Depressed nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Premature osteoarthritis, M...	OMIM:215150
Restrictive Dermopathy 1	Choanal atresia, Depressed nasal bridge, Natal tooth, Temporomandibular joint ankylosis, Microgna...	OMIM:275210
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Anterior ...	OMIM:271665
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs...	OMIM:200610
Bruck Syndrome	Platyspondyly, Joint stiffness, Recurrent fractures, Osteoporosis, Scoliosis, Arthrogryposis mult...	ORPHA:2771
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Ankyloglossia, Limited hip movement, Micrognathia, Short lingual fr...	ORPHA:740
Frontorhiny	Hypoplasia of the maxilla, Camptodactyly of finger, Hypoplastic frontal sinuses, Bifid tongue, Cl...	ORPHA:391474
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Malar flattening, Concave nasal ridge, Macroglossia, Sh...	OMIM:613038
Doors Syndrome	Wide nasal base, Short lingual frenulum, Open mouth, High palate, Broad nasal tip, Downturned cor...	ORPHA:79500
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Emphysema, Breast hypoplasia, Micrognathia, Patellar aplasia, Lateral ...	OMIM:613804
Tetrasomy 15Q26	Camptodactyly, High palate, Kyphoscoliosis	OMIM:614846
Dyssegmental Dysplasia, Silverman-Handmaker Type	Thoracic hypoplasia, Micromelia, Micrognathia, Malar flattening, Neonatal death, Bowing of the lo...	OMIM:224410
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Abnormal per...	ORPHA:313855
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Long philtrum, Micrognathia, Prominent nasal bridge, Smooth p...	OMIM:300749
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Malaria	Respiratory distress, Acute kidney injury	ORPHA:673
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria	ORPHA:26792
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Kyphoscoliosis	ORPHA:101003
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma	OMIM:301845
Coffin-Siris Syndrome 11	Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Cleft soft palate...	OMIM:618779
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Bell-sh...	ORPHA:485
Alopecia-Intellectual Disability Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:2850
Fetal Akinesia Deformation Sequence	Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Multiple joint contractures, Intes...	ORPHA:994
Orofaciodigital Syndrome Type 10	Depressed nasal bridge, Retrognathia, Long philtrum, Cleft soft palate, Micrognathia, Tarsal syno...	ORPHA:2756
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Anteverted nares, Retrognathia, Short nose	OMIM:234050
Acrocephalopolydactyly	Depressed nasal ridge, Short nose	ORPHA:221054
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Respiratory insufficiency due to muscle weakness, Respiratory fai...	ORPHA:352447
Mucopolysaccharidosis, Type Vi	Depressed nasal bridge, Recurrent upper respiratory tract infections, Carious teeth, Delayed erup...	OMIM:253200
Say Syndrome	Micrognathia, Cleft palate	OMIM:181180
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory insufficiency, Respiratory tract infection, Hyperlordosis, Respiratory i...	ORPHA:365
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Butterfly vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Thoracic scoliosi...	OMIM:611209
Hydrocephalus-Obesity-Hypogonadism Syndrome	Low posterior hairline, Absent facial hair, Sparse facial hair	ORPHA:2183
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
W Syndrome	Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Submucous cleft hard palate,...	ORPHA:2804
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti...	OMIM:620011
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Delayed pubic bone ossificat...	OMIM:184250
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose	OMIM:618087
19P13.3 Microduplication Syndrome	Osteoporosis, Cleft palate, Kyphoscoliosis	ORPHA:447980
Cockayne Syndrome Type 1	Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ...	ORPHA:90321
Spondylocarpotarsal Synostosis Syndrome	Block vertebrae, Broad nasal tip, Failure of eruption of permanent teeth, Carpal synostosis, Ante...	OMIM:272460
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Prominent crus ...	OMIM:101400
Saethre-Chotzen Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent crus of helix, Open bite, Prominent ...	ORPHA:794
Treacher Collins Syndrome 2	Choanal atresia, Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Fusion of mid...	OMIM:613717
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Coarse metaphyseal trabecularization, Death in childhood, Short ribs, Limb undergro...	OMIM:618961
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Micrognathia, Narrow mouth, Acroosteolysis of distal phalanges (fee...	ORPHA:90154
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short philtrum, Open mouth, Short nose	ORPHA:228384
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Respiratory distress, Horseshoe kidney, Horizontal ribs, Sho...	OMIM:617088
Spinocerebellar Ataxia-Dysmorphism Syndrome	Downturned corners of mouth, Anteverted nares, Joint hypermobility, Thick vermilion border, Spina...	ORPHA:1185
Spondyloepiphyseal Dysplasia Congenita	Pectus carinatum, Hypoplasia of the odontoid process, Respiratory distress, Limited hip movement,...	OMIM:183900
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Neonatal death, Pulmonary hypoplasia, Lacticaciduria	OMIM:619003
Baller-Gerold Syndrome	Anteriorly placed anus, Narrow nasal bridge, Micrognathia, Narrow mouth, Prominent nasal bridge, ...	ORPHA:1225
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Micrognathia, Contractures of the large joints, Sho...	ORPHA:3078
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Thin vermilion border, Spina bifida occulta, Short philtrum, Reduced...	ORPHA:2983
Microphthalmia, Syndromic 2	Bifid uvula, Bifid nasal tip, Broad nasal tip, Dental malocclusion, Delayed eruption of teeth, Lo...	OMIM:300166
46,Xy Sex Reversal 4	Depressed nasal ridge, Long philtrum, Prominent nose, Micrognathia, Anteverted nares, Distal symp...	OMIM:154230
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb...	OMIM:618728
Trisomy 13	Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal rib morphology, Abno...	ORPHA:3378
Pseudohypoparathyroidism Type 1C	Depressed nasal bridge, Ectopic ossification, Delayed eruption of teeth, Enamel hypoplasia, Incre...	ORPHA:79444
Fraser Syndrome 3	Hypoplasia of the bladder, Short toe, Bilateral renal agenesis, Abnormal lung lobation, Ureteral ...	OMIM:617667
Hypertrophic Neuropathy Of Dejerine-Sottas	Scoliosis, Kyphoscoliosis	OMIM:145900
Hajdu-Cheney Syndrome	Osteopenia, Foot acroosteolysis, Short nail, Tall lumbar vertebral bodies, Intestinal malrotation...	OMIM:102500
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft upper lip, Micrognathia, Solitary median maxillary central incisor, High palate, Cleft palate	OMIM:602418
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Neonatal death	OMIM:609638
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Aspiration pneumonia, Elbow flexion contracture, Micrognathia, Hip con...	ORPHA:2020
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Abnormality of the dentition, Depressed nasal bridge, Osteopenia, Do...	OMIM:615398
Au-Kline Syndrome	Bifid uvula, Bifid nasal tip, Dental malocclusion, Downturned corners of mouth, Retrognathia, Und...	OMIM:616580
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Micromelia, Broad long...	OMIM:224400
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Underdeveloped nasal alae, Ante...	OMIM:616835
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Distichiasis, Abnormal hair pattern, Sparse hair, ...	ORPHA:1807
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ...	OMIM:618042
Sandestig-Stefanova Syndrome	Highly arched eyebrow, Retrognathia, Sparse medial eyebrow, Short neck, Camptodactyly, Laterally ...	OMIM:618804
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Everted upper lip vermilion, Retrognathia, Anteverted nares, Micrognathia...	OMIM:608013
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Spastic Paraplegia 20, Autosomal Recessive	Camptodactyly, Flexion contracture, Hyperextensible hand joints, Kyphoscoliosis	OMIM:275900
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Anteverted nares, Cleft soft palate, Micrognathia, Submucous cleft soft palate...	ORPHA:2282
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Recurrent respir...	ORPHA:3347
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P...	ORPHA:1106
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Micrognathia, Knee flexion contracture, Cyanotic episode, Limb joint c...	ORPHA:284417
Sponastrime Dysplasia	Delayed epiphyseal ossification, Depressed nasal bridge, Delayed eruption of permanent teeth, Ant...	ORPHA:93357
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Anosmia, Cleft lip, Bifid nose, Osteoporosis, Cleft palate, Hyposmia	OMIM:614838
Al-Raqad Syndrome	Thin upper lip vermilion, Narrow mouth, Short nose, Joint hypermobility	OMIM:616459
Incontinentia Pigmenti	Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal d...	ORPHA:464
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary interstitial...	OMIM:612387
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair	OMIM:616819
Distal Deletion 10Q	Wide nasal bridge, Prominent nose, Micrognathia, Prominent nasal bridge, Thin upper lip vermilion...	ORPHA:96148
Trisomy 20P	Abnormality of the dentition, Downturned corners of mouth, Camptodactyly of finger, Anteverted na...	ORPHA:261318
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Narrow mouth, Malar flattening, Thin upper lip vermilio...	ORPHA:357001
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Mucolipidosis Type Iii Alpha/Beta	Joint stiffness, Kyphoscoliosis, Short neck, Generalized osteoporosis, Flexion contracture, Osteo...	ORPHA:423461
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Overlapping toe, Micrognathia, Low posterior hairline, Sprengel anomaly, Hy...	OMIM:213980
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins...	OMIM:615067
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Highly arched eyebrow, Pulmonary artery atresia, Hypertrichosis, Overlapping toe, Overlapping fin...	OMIM:618316
X-Linked Intellectual Disability, Cantagrel Type	Short philtrum, Tented upper lip vermilion, Short nose	ORPHA:85277
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Carious teeth, Broad nasal tip, Retrognathia, Downturned corners of mouth, Prominent...	ORPHA:177907
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate	ORPHA:2736
Holzgreve Syndrome	Joint stiffness, Aplasia/Hypoplasia of the lungs, Abnormally ossified vertebrae, Abnormal rib mor...	ORPHA:2167
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Mosaic Trisomy 1	Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, Renal cortical c...	ORPHA:1692
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conical tooth, Bilateral choanal atresia...	OMIM:106260
Avian Influenza	Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Res...	ORPHA:454836
Craniosynostosis 2	Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Craniosynostosis, Supernumerary t...	OMIM:604757
Renal And Mullerian Duct Hypoplasia	Micrognathia, Short nose	OMIM:266810
Cryptogenic Organizing Pneumonia	Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia	ORPHA:1302
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Depressed nasal bridge, Osteopenia, Long philtrum, Underdevelope...	OMIM:616007
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Smooth philtrum, Micrognathia, Esophageal atresia	OMIM:614526
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Pulmonary hypoplasia, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplas...	OMIM:615503
Hydrolethalus	Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Micrognathia, Submucous cleft ha...	ORPHA:2189
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Hypoplasia of the maxilla, Micrognathia, Death in childhood, ...	OMIM:301108
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anal stenosis, Long philtrum, Anteverted nares, Micrognathia, Open mouth,...	OMIM:614080
Atelosteogenesis, Type I	Depressed nasal bridge, Stillbirth, Micrognathia, Malar flattening, Neonatal death, Multinucleate...	OMIM:108720
Developmental And Epileptic Encephalopathy 89	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Long philtrum, Anteverted nares, De...	OMIM:619124
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Choanal atresia, Retrognathia, Prominent nasal bridge, High palate, Cleft palate	ORPHA:52055
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Scoliosis, Respiratory failure	ORPHA:98913
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory failure, Pulmonary infiltrates	ORPHA:70578
Laryngotracheoesophageal Cleft Type 4	Respiratory insufficiency, Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Pleural effusion, Cyanosis	ORPHA:2414
Ayme-Gripp Syndrome	Wide nasal bridge, Craniofacial asymmetry, Abnormality of the dentition, Depressed nasal bridge, ...	OMIM:601088
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Synophrys, Scoliosis, Kyphoscoliosis	ORPHA:391307
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Micrognathia, Prominent nasal bridge, Thin vermilion border, High palate, Shor...	ORPHA:251071
Shprintzen-Goldberg Syndrome	Osteopenia, Pectus carinatum, Narrow chest, Hypoplasia of the maxilla, Retrognathia, Camptodactyl...	ORPHA:2462
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormality of the vertebral column, Cleft soft palate, Kyphoscoliosis, Scoliosis	ORPHA:93316
Pachyonychia Congenita	Advanced eruption of teeth, Angular cheilitis, Natal tooth, Oral leukoplakia	ORPHA:2309
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Synostosis of carpal bones, Delaye...	ORPHA:289
3P25.3 Microdeletion Syndrome	High, narrow palate, Depressed nasal bridge, Downturned corners of mouth, Prominent nose, Microgn...	ORPHA:435638
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Brittle hair, Coarse hair	ORPHA:1883
Tetrasomy 18P	Thin vermilion border, Narrow mouth, Long philtrum, Short nose	ORPHA:3307
Cerebrofacioarticular Syndrome	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Anal stenosis, Tracheomalacia, Anterior...	ORPHA:314679
Episodic Ataxia Type 1	Scoliosis, Kyphoscoliosis	ORPHA:37612
Microform Holoprosencephaly	Choanal atresia, Narrow nasal bridge, Anteverted nares, Tented upper lip vermilion, Midnasal sten...	ORPHA:280200
Spondyloenchondrodysplasia	Juvenile rheumatoid arthritis, Dental malocclusion, Delayed eruption of teeth, Arthritis	ORPHA:1855
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Short nose, Wide nasal bridge	OMIM:620292
Diamond-Blackfan Anemia 8	Thick upper lip vermilion, Short nose, Wide nasal bridge	OMIM:612563
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphysis, Thoracic hypoplasia, Femoral...	OMIM:613091
Toriello-Carey Syndrome	Anteriorly placed anus, Micrognathia, Abnormal palate morphology, Aganglionic megacolon, Short no...	ORPHA:3338
Charcot-Marie-Tooth Disease, Type 4A	Kyphoscoliosis	OMIM:214400
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short columella, Aganglio...	OMIM:613603
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Anteverted nares,...	OMIM:300912
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Joint hypermobility, Recurrent respiratory infections, Scoliosis, Respiratory failure,...	ORPHA:98905
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Fetal Hydantoin Syndrome	Depressed nasal ridge, Everted lower lip vermilion, Short nose, Wide mouth, Cleft palate	ORPHA:1912
Combined Oxidative Phosphorylation Deficiency 32	Joint contracture, Kyphoscoliosis	OMIM:617664
Bcard Syndrome	Abnormality of the dentition, Osteopenia, Downturned corners of mouth, Contracture of the proxima...	OMIM:612394
Johnson Neuroectodermal Syndrome	Choanal atresia, Anosmia, Carious teeth, Bulbous nose, Everted lower lip vermilion, Cleft palate	ORPHA:2316
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo...	OMIM:614941
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent upper respiratory tract infections, Gingival overgrowth, Delayed eruption of teeth	ORPHA:508542
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, Cleft lip, Bulbous nose, Narrow nose, Micrognathia, An...	OMIM:618454
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Cleft lip, Microretrognathia, Long philtrum, Narrow mouth, Generalize...	ORPHA:2953
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia	OMIM:614096
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Aplasia/Hypopl...	ORPHA:2095
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nasal septum, Short nose	OMIM:302950
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Wide nasal bridge, Underdeveloped nasal alae, ...	ORPHA:96169
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia,...	ORPHA:2256
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Pulmonary hypoplasia, Postaxial polysyn...	OMIM:263520
Trichothiodystrophy 3, Photosensitive	Carious teeth, Meckel diverticulum, Natal tooth, Eclabion, Pyloric stenosis	OMIM:616395
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Knee flexion contracture, Achilles tendon contracture, Hyperlordosis, Res...	OMIM:310200
Paternal Uniparental Disomy Of Chromosome 5	Kyphoscoliosis	ORPHA:96190
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Long philtrum, Micrognathia, Tented upper lip vermilion, Smooth...	ORPHA:521426
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Hypophosphatemic rickets, Kyphoscoliosis, Recurrent fractures	OMIM:163200
Cadds	Micrognathia, Short nose	ORPHA:369942
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal epiphysis morphology, Retrognathia, Fine hair, Micromelia, Hypoplastic iliac wing, Trach...	ORPHA:2637
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Abnormality of the dentition, Depressed nasal bridge, Osteopenia, Delayed ossification of carpal ...	OMIM:271510
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Anteverted nares, Gingival overgr...	ORPHA:769
Diamond-Blackfan Anemia 6	Bifid uvula, Retrognathia, Cleft upper lip, Tracheomalacia, Micrognathia, Cleft palate	OMIM:612561
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Micrognathia, Narrow mouth, Protruding tongue, Death in infancy, Smooth philtrum, T...	OMIM:608779
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Natal tooth, Thick upper lip vermilion, Depressed nasal tip, Micrognathia, Med...	OMIM:612651
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Short ribs, Joint hy...	OMIM:250420
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Hypochondroplasia	Flared metaphysis, Limited elbow extension, Trident hand, Malar flattening, Aplasia/hypoplasia of...	OMIM:146000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Left unicoronal sy...	OMIM:614749
Autosomal Recessive Robinow Syndrome	Synostosis of carpal bones, Open bite, Ankyloglossia, Micrognathia, Short nose, Downturned corner...	ORPHA:1507
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Fra...	ORPHA:79404
Gand Syndrome	Sparse hair	OMIM:615074
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Osteopenia, Tented upper lip vermilion, Malar flattening, Limited elbow e...	OMIM:616723
Lethal Congenital Contracture Syndrome 10	Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral bowing, Micrognathia, Thoracic...	OMIM:617022
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Otospondylomegaepiphyseal Dysplasia	Depressed nasal bridge, Bifid uvula, Limitation of joint mobility, Anteverted nares, Micrognathia...	ORPHA:1427
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Long philtrum, Micrognathia, Tented upper lip vermilion, Smooth...	OMIM:617527
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Anteverted nares, Open mouth, Short philtrum, Short nose	OMIM:618437
Pseudohypoparathyroidism Type 1A	Depressed nasal bridge, Ectopic ossification, Delayed eruption of teeth, Enamel hypoplasia, Incre...	ORPHA:79443
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Camptodactyly of finger, Death in infancy, Flexion contracture, Respiratory failure	ORPHA:1194
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Choanal atresia, Retrognathia, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal...	OMIM:619227
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridge overgrowth, M...	OMIM:301072
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Narrow chest, Rhizomelia, Lumbar hyperlordosis, Neonatal death, Respiratory failur...	OMIM:616482
Cockayne Syndrome B	Carious teeth, Dental malocclusion, Limitation of joint mobility, Prominent nasal bridge, Death i...	OMIM:133540
Phosphoribosylaminoimidazole Carboxylase Deficiency	Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Anteverted nares, Neonatal de...	OMIM:619859
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy	OMIM:242300
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Scoliosis, Intercostal muscle weakness, Down-sloping shoulders	OMIM:606071
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Facial hypertrichosis, Kyphoscoliosis, Camptodactyly, Macroglossia, High palate, Neuropathic spin...	ORPHA:397709
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Neurodegeneration With Brain Iron Accumulation 2A	Micrognathia, Short nose	OMIM:256600
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Aganglionic megaco...	OMIM:613870
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Carious teeth, Del...	ORPHA:221008
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Broad ribs, Joint stiffness, Short neck, Sinusitis,...	ORPHA:583
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z...	ORPHA:193
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia, Club...	ORPHA:747
Trichohepatoenteric Syndrome 2	Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair	OMIM:614602
Lathosterolosis	Downturned corners of mouth, Long philtrum, Bulbous nose, Anteverted nares, Micrognathia, Gingiva...	ORPHA:46059
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Anal atresia, Cervical instability, Delaye...	OMIM:617425
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Absent nipple, Brittle hair, Absent hair	OMIM:614940
Lathosterolosis	Long philtrum, Thick upper lip vermilion, Anteverted nares, Micrognathia, Alveolar ridge overgrow...	OMIM:607330
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Depressed nasal bridge, Osteopenia, Dental malocclusion, Open bite,...	OMIM:115150
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long eyelashes, Short long bone, Short ...	OMIM:102370
Osteogenesis Imperfecta, Type Vii	Osteopenia, Narrow chest, Dentinogenesis imperfecta, Rhizomelia, Micromelia, Hypoplastic pulmonar...	OMIM:610682
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Cutis marmorata, Mic...	ORPHA:818
Carpenter Syndrome	Craniosynostosis, Kyphoscoliosis	ORPHA:65759
Wrinkly Skin Syndrome	Osteopenia, Carious teeth, Broad nasal tip, Delayed eruption of teeth, Long philtrum, Generalized...	ORPHA:2834
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Submucous cleft hard palate, Contracture of the proximal interphalangeal joint of ...	ORPHA:457279
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Joint contracture of the hand, Kyphoscoliosis, Trichodysplasia, Absent eyebrow, Campt...	OMIM:601701
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Organic aciduria	OMIM:614741
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Respiratory distress, Tracheoesophageal fistula, Dyspnea, Neoplasm of t...	ORPHA:142
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den...	ORPHA:238468
Leigh Syndrome, Nuclear	Respiratory insufficiency, Respiratory failure, Hypertrichosis	OMIM:256000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Wide nasal bridge, Anteverted nares, Micrognathia, Narrow mouth, Neonatal death	OMIM:618810
Blepharocheilodontic Syndrome 1	High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair	OMIM:119580
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Widely-spaced maxillary central incisors, Diastema, Thick lower lip vermi...	OMIM:301040
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Respiratory failure	ORPHA:70472
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Broad thumb, Tracheo...	ORPHA:93260
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse eyebrow, Kyphoscoliosis, Curly hair, Sparse hair, Synophrys	OMIM:620075
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose	ORPHA:210548
Diamond-Blackfan Anemia 10	Respiratory distress, Micrognathia, Malar flattening, Renal duplication, Supernumerary ribs, Ecto...	OMIM:613309
Ohdo Syndrome, Sbbys Variant	Depressed nasal bridge, Bulbous nose, Micrognathia, Microdontia, Thin upper lip vermilion, Cleft ...	OMIM:603736
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, Tracheomalacia, 11 pairs of ribs, Femoral bowing,...	ORPHA:140
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Limited ...	ORPHA:93346
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Inflammation of the large intestine, Carious teeth, Periodontitis, Osteopenia, Gout, I...	ORPHA:79259
Birk-Barel Syndrome	Bifid uvula, Microretrognathia, Tented upper lip vermilion, Submucous cleft soft palate, High pal...	OMIM:612292
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Retrognathia, Small epiphyses, Joint hypermobility, Adducted thum...	OMIM:620269
Genitopalatocardiac Syndrome	Wide nasal bridge, Downturned corners of mouth, Micrognathia, Non-midline cleft of the upper lip,...	ORPHA:2075
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Proximal tubulopathy, Aminoaciduria	OMIM:612075
Myhre Syndrome	Abnormal penis morphology, Craniofacial hyperostosis, Hypospadias, Hypoplasia of the maxilla, Abn...	ORPHA:2588
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Smooth philtrum, Short nose	OMIM:618828
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In...	ORPHA:95430
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Alopecia, Atrichia, Short finger, Nail dystrophy, Congenital abnormal hair pattern, Ac...	ORPHA:1867
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c...	ORPHA:1299
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Talon cusp, Tarsa...	OMIM:605282
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure	OMIM:620296
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Long philtrum, Cleft mandible, Underdeveloped nas...	OMIM:608670
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Homocystinuria, Methylmalonic aciduria, Respiratory distress, Jaundice	OMIM:250940
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Facial hir...	ORPHA:163654
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Erythema, Narrow chest, Sparse eyebrow, Abnormal pulmonary in...	OMIM:614748
Distal Deletion 9P	High, narrow palate, Abnormality of the dentition, Wide nasal bridge, Short nose, Cleft palate	ORPHA:1642
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir...	ORPHA:51636
Hydrolethalus Syndrome 2	Micrognathia, Cleft palate	OMIM:614120
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Carious teeth, Diastema, Intestinal malrotation, Anteverted nares, Microg...	OMIM:244450
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Chronic rhinitis, Osteopetrosis, Cran...	ORPHA:667
Ramon Syndrome	Juvenile rheumatoid arthritis, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	OMIM:266270
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Tracheal atresia, Bilateral lung agenesis, Neonatal death	OMIM:601612
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Scapular winging, Achilles tendon contracture	OMIM:603689
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Renal dysplasia, Hypertrichosis, Respiratory distress, Joint hypermobility, Postaxial...	OMIM:300968
Opsismodysplasia	Renal phosphate wasting, Metaphyseal cupping, Narrow chest, Hypoplasia of the odontoid process, R...	OMIM:258480
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Depressed nasal bridge, Absent cupid's bow, Bulbous nose, Celiac disease, Short ...	ORPHA:284169
Pachyonychia Congenita 2	Angular cheilitis, Natal tooth, Oral leukoplakia	OMIM:167210
Thoracic Dysplasia-Hydrocephalus Syndrome	Narrow chest, Limb undergrowth, Respiratory failure	ORPHA:1861
Gm1-Gangliosidosis, Type I	Hypertrichosis, Joint stiffness, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beak...	OMIM:230500
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Craniosynostosis, Duodenal atre...	OMIM:614114
Dyskeratosis Congenita	Alopecia, Carious teeth, Coarse metaphyseal trabecularization, Hypoplasia of the maxilla, White h...	ORPHA:1775
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Underdeveloped nasal alae, Micrognathia, Abnor...	ORPHA:436003
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Kyphoscoliosis	ORPHA:53721
Holoprosencephaly 3	Bifid uvula, Depressed nasal bridge, Cleft lip, Abnormality of the nose, Proboscis, Single naris,...	OMIM:142945
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Wrist hypermobility, Joint hypermobility, Hypodontia, Finger joint hypermobi...	ORPHA:544503
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures, Abnormal posturing	OMIM:304700
Craniofacioskeletal Syndrome	Small hand, Tracheal stenosis, Micrognathia, Hypoplastic frontal sinuses, Barrel-shaped chest, Hy...	OMIM:300712
Androgen Insensitivity Syndrome	Sparse axillary hair, Sparse pubic hair, Absent facial hair	OMIM:300068
Pai Syndrome	Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up...	ORPHA:1993
Intellectual Developmental Disorder, Autosomal Dominant 73	Ankyloglossia, Cleft soft palate, Everted lower lip vermilion, Long nose, High palate, U-Shaped u...	OMIM:620450
Cockayne Syndrome A	Carious teeth, Dental malocclusion, Limitation of joint mobility, Prominent nose, Hip contracture...	OMIM:216400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Amelia, Decreased skull ossification, Syndactyly, Clinodactyly of the 5th finger,...	OMIM:601163
Progeroid Syndrome, Petty Type	Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,...	ORPHA:2963
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Broad nasal tip, Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Prominen...	ORPHA:457193
Loeys-Dietz Syndrome 5	Bifid uvula, Retrognathia, Cleft soft palate, Tented upper lip vermilion, Prominent nasal bridge,...	OMIM:615582
Galloway-Mowat Syndrome 7	High palate, Cleft palate, Kyphoscoliosis	OMIM:618348
Trichothiodystrophy 1, Photosensitive	Retrognathia, Intestinal obstruction, Death in infancy, Triangular mouth, Flexion contracture, Sh...	OMIM:601675
Trisomy 10P	Depressed nasal bridge, Retrognathia, Abnormal lip morphology, Abnormality of the nose, Anteverte...	ORPHA:171929
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Kyphoscoliosis	ORPHA:3077
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate, Branchial fistula, Branchial cyst, Trismus	OMIM:609166
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Retrognathia, Micrognathia, Narrow mouth, Long nose, High palate, Cleft palate	OMIM:301091
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Conical tooth...	OMIM:305100
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Dysplastic patella, Patellar aplasia, Arachnodactyly, Long clavicles, Dislocated ra...	OMIM:265000
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair	OMIM:619691
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Depressed nasal bridge, Abnormal dental morphology,...	OMIM:277600
Autosomal Dominant Robinow Syndrome	Open bite, Micrognathia, Anodontia, Short nose, Wide nose, High, narrow palate, Downturned corner...	ORPHA:3107
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Microretrognathia, Adducted thumb	ORPHA:89844
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Fibrous Dysplasia Of Bone	Abnormal facial skeleton morphology, Abnormal clavicle morphology, Rickets, Abnormal mandible mor...	ORPHA:249
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Depressed nasal bridge, Mandibular prognathia, Unilateral cleft lip, Thick lower lip vermilion, B...	OMIM:619103
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose	ORPHA:3044
Opitz Gbbb Syndrome	Wide nasal bridge, Cleft lip, Natal tooth, Tracheomalacia, Long philtrum, Ankyloglossia, Antevert...	ORPHA:2745
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Long philtrum, Narrow mouth, Malar flattening, Thin upper lip vermilion, ...	OMIM:601353
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Woolly hair	OMIM:619208
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Contractures of the large joints, Protruding tongue, Kyphoscoliosis	ORPHA:324410
Trichorhinophalangeal Syndrome Type 2	Wide nasal bridge, Abnormality of the dentition, Long philtrum, Thick nasal alae, Bulbous nose, A...	ORPHA:502
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Micrognat...	OMIM:271640
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Joint hypermobility, Wide mouth, Short nose	ORPHA:293948
Cerebrofaciothoracic Dysplasia	Narrow chest, Coarse hair, Thick eyebrow, Vertebral segmentation defect, Low posterior hairline, ...	ORPHA:1394
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair	ORPHA:3051
Immunodeficiency 49	Short philtrum, Micrognathia, Natal tooth	OMIM:617237
Craniofaciofrontodigital Syndrome	Osteopenia, Pectus carinatum, Hypertrichosis, Respiratory distress, Premature skin wrinkling, Joi...	ORPHA:363705
Microlissencephaly-Micromelia Syndrome	Micromelia, Respiratory distress, 11 pairs of ribs, Adducted thumb, Generalized hypertrichosis, F...	ORPHA:50810
Familial Visceral Myopathy	Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bridge, Joint stiffness,...	ORPHA:2604
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Choanal atresia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Anteriorly placed anus...	ORPHA:1555
Autosomal Dominant Popliteal Pterygium Syndrome	Choanal atresia, Fibrous syngnathia, Lip pit, Joint stiffness, Micrognathia, Thin upper lip vermi...	ORPHA:1300
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures, Abnormal posturing, Aspiration pneumonia	ORPHA:216866
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Tracheal stenosis, Limited elbow movement, Limb undergrowth, Bra...	OMIM:617809
Cornelia De Lange Syndrome	Choanal atresia, Depressed nasal bridge, Downturned corners of mouth, Delayed eruption of teeth, ...	ORPHA:199
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Long philtrum, Anteverted nares, Micrognathia, Intestinal po...	ORPHA:109
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis	OMIM:601455
Mucopolysaccharidosis, Type Vii	Thoracolumbar kyphosis, Pectus carinatum, Recurrent upper respiratory tract infections, Coarse ha...	OMIM:253220
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Alopecia, Kyphoscoliosis, Thoracic scoliosis, Joint hypermobility, High palate, Narro...	ORPHA:536532
8Q24.3 Microdeletion Syndrome	Short hallux, Abnormality of the kidney, Short 5th finger, Bilateral renal hypoplasia, Long eyela...	ORPHA:508488
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Filippi Syndrome	Frontal hirsutism, Sparse hair, Hypertrichosis	OMIM:272440
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Natal tooth, Tracheomalacia, Thick lower lip vermilion, Anal atresia	ORPHA:261652
Pitt-Hopkins Syndrome	Tooth malposition, Failure of eruption of permanent teeth, Triangular nasal tip, Anteverted nares...	ORPHA:2896
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum...	ORPHA:538
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Broad ribs, Long eyelashes, Thick ey...	ORPHA:1517
Linear Skin Defects With Multiple Congenital Anomalies 2	Long philtrum, Short nose	OMIM:300887
Kaposiform Lymphangiomatosis	Abnormal lung morphology, Fractures of the long bones, Abnormal scapula morphology, Osteolysis, B...	ORPHA:464329
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Tented upper lip vermilion, Op...	OMIM:618430
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Cleft upper lip, Camptodactyly of finger, Anteverted nares, Exaggerated c...	ORPHA:261236
Pfeiffer Syndrome Type 1	Depressed nasal bridge, High palate, Bicoronal synostosis, Short nose	ORPHA:93258
Allan-Herndon-Dudley Syndrome	Flexion contracture, Kyphoscoliosis	ORPHA:59
Pterygium Colli, Isolated	Short nose	OMIM:177990
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Abnormal dental enamel morphology, Abnormal dental morphology, Microgna...	ORPHA:85199
Ring Chromosome 7 Syndrome	Wide nasal bridge, Bifid uvula, Prominent crus of helix, Narrow naris, Anteverted nares, Prominen...	ORPHA:1449
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Abnormal toenail morphology, Sparse hair, A...	ORPHA:140936
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Premature graying of hair, Emphysema, Nail dystrophy, Pulmonary fibrosis	OMIM:620365
Monosomy 9P	Abnormality of the dentition, Choanal atresia, Depressed nasal bridge, Limitation of joint mobili...	ORPHA:261112
Van Esch-O'Driscoll Syndrome	Bifid uvula, Depressed nasal bridge, Retrognathia, Downturned corners of mouth, Tracheoesophageal...	OMIM:301030
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge, Oligodontia, ...	OMIM:609460
Keutel Syndrome	Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis...	OMIM:245150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Apl...	OMIM:609945
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Flexion contracture, Scoliosis, Respiratory failure	OMIM:616505
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Long philtrum, Joint hypermobility, High palate, Short nose	OMIM:605309
Stromme Syndrome	Wide nasal bridge, Intestinal malrotation, Short columella, Micrognathia, Prominent nasal bridge,...	OMIM:243605
Schwartz-Jampel Syndrome	Micrognathia, Hip contracture, Generalized hirsutism, Short neck, Sprengel anomaly, Spinal rigidi...	ORPHA:800
Lethal Congenital Contracture Syndrome 2	Micrognathia, Arthrogryposis multiplex congenita, Respiratory failure	OMIM:607598
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Micrognathia, Tarsal synostosis, Talocalcaneal synostosis, High palate, Cleft palate	OMIM:147891
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Abnormal cartilage matrix, Arthrogryposis m...	ORPHA:86822
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Prolonged n...	ORPHA:226313
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Sparse hair, Micrognathia, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis	ORPHA:621
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Dermotrichic Syndrome	Aganglionic megacolon, Depressed nasal bridge, Short nose	ORPHA:99688
Cardiac-Valvular Ehlers-Danlos Syndrome	Thick eyebrow, Joint hypermobility, Kyphoscoliosis, Thoracolumbar scoliosis, High palate, Hypermo...	ORPHA:230851
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture	ORPHA:2596
Mogs-Cdg	Alopecia, Fair hair, Retrognathia, Respiratory distress, Overlapping fingers, Apnea, Long eyelash...	ORPHA:79330
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Respiratory distress, Glandular hypospadias, Pneumothorax, Short femur, Pulmonary hy...	OMIM:620306
Chand Syndrome	Short fifth metatarsal, Agenesis of maxillary incisor, Atelectasis, Curly hair	ORPHA:1401
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nasal tip, Abn...	ORPHA:2399
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Micrognathia, Malar flattening, Non-midline cleft of the upper lip, Clef...	ORPHA:246
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Progressive Pseudorheumatoid Arthropathy Of Childhood	Platyspondyly, Joint contracture of the hand, Limitation of joint mobility, Vertebral wedging, Ab...	ORPHA:1159
Chromosome 8Q21.11 Deletion Syndrome	Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Micrognathia, Exaggera...	OMIM:614230
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Micropenis, Clubbing of fingers	ORPHA:335
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Long philtrum, Cervical C5/C6 vertebrae f...	OMIM:613458
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Osteopenia, Craniosynostosis, Short nose	OMIM:614732
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Joint contracture of the hand, Kyphoscoliosis, Camptodactyly, High palate	OMIM:612513
Myhre Syndrome	Platyspondyly, Hypoplasia of the maxilla, Limitation of joint mobility, Short toe, Fine hair, Res...	OMIM:139210
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Macroglossi...	OMIM:613457
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Fine hair	ORPHA:1839
Ifap Syndrome 2	Atrichia, Sparse hair, Nail dystrophy	OMIM:619016
Genitopatellar Syndrome	Wide nasal bridge, Anal stenosis, Malrotation of small bowel, Delayed eruption of teeth, Anterior...	OMIM:606170
Esophageal Atresia	Abnormality of the urinary system, Clinodactyly, Bronchitis, Recurrent respiratory infections, Re...	ORPHA:1199
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Long philtrum, Prominent nasal bridge, Advanced eruption of teeth, Orofacial c...	ORPHA:1519
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Prominent nasal bridge, Joint hypermobility, Orofa...	ORPHA:65286
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia	ORPHA:596
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Natal tooth, Cleft palate	ORPHA:158687
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Micrognathia, Cyanosis, 2-3 toe syndactyly, Frontal hirsutism, Clubbing of fingers	ORPHA:3304
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia	ORPHA:264675
Alg9-Cdg	Bifid uvula, Depressed nasal bridge, Microretrognathia, Long philtrum, Underdeveloped nasal alae,...	ORPHA:79328
Pallister-Hall Syndrome	Choanal atresia, Depressed nasal bridge, Microglossia, Natal tooth, Cleft upper lip, Anteriorly p...	OMIM:146510
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P...	OMIM:607625
Eosinophilic Granulomatosis With Polyangiitis	Abnormal pleura morphology, Cutis marmorata, Renal insufficiency, Hematuria, Proteinuria, Purpura...	ORPHA:183
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Short toe, Thoracic hypoplasia, Hypoplastic iliac wing, Small ep...	OMIM:611717
Zygomycosis	Atelectasis, Osteolysis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneu...	ORPHA:73263
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Micrognathia, Non-midline cleft of the upper lip, Cleft palate	ORPHA:3429
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Ever...	OMIM:618332
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Kyphoscoliosis	OMIM:604168
Cowden Syndrome 5	Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, High...	OMIM:615108
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Wide nasal bridge, Bifid uvula, Choanal atresia, Carious teeth, Natal tooth, Branchial cyst, Down...	OMIM:620186
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco...	OMIM:614207
Autosomal Recessive Multiple Pterygium Syndrome	Limitation of joint mobility, Finger syndactyly, Abnormal sternum morphology, Camptodactyly of fi...	ORPHA:2990
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Finger joint contracture, Joint stiffness, Frontal upsweep of hair, L...	OMIM:620494
White-Kernohan Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Anteriorly placed anus, Antevert...	OMIM:619426
C Syndrome	Depressed nasal bridge, Limitation of joint mobility, Long philtrum, Anteverted nares, Micrognath...	ORPHA:1308
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure	ORPHA:2254
Frontonasal Dysplasia 3	Wide nasal bridge, Underdeveloped nasal alae, Cleft palate, Tessier cleft	OMIM:613456
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Pulmonary artery hypoplasia, Renal agenesis, Cyanosis, Micropenis, Osteoporosis	ORPHA:2326
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,...	OMIM:300953
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Renal insufficiency, Cyanosis, Renal tubular dysfunction, Episod...	ORPHA:31826
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Protein-losing enteropathy, Micrognathia, Malar flattening, Death in infancy, ...	OMIM:235255
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Fine hair, Emphysema, Abnormal hair morphology, Trichorrhexis nodo...	ORPHA:634
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Bell-shaped thorax, Epiphyseal stippling, Micrognathia, Malar flattening, Death in...	OMIM:214100
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Thin upper lip v...	OMIM:615803
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor...	OMIM:252600
Hurler Syndrome	Abnormal vertebral morphology, Abnormal clavicle morphology, Limitation of joint mobility, Spinal...	ORPHA:93473
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Congenital Tracheal Stenosis	Abnormal lung lobation, Respiratory distress, Abnormality of the ureter, Anomalous origin of left...	ORPHA:141127
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized hirsutism, Respiratory failure	ORPHA:363400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Short nose	OMIM:616910
Deeah Syndrome	Narrow palate, Retrognathia, Long philtrum, Narrow mouth, Death in childhood, Death in infancy, D...	OMIM:619004
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Rheumatoid arthritis, Lumbar hyperlordosis, Sclerosis of skull base, Increased int...	OMIM:607944
Tetanus	Elevated urinary norepinephrine level, Respiratory distress, Stiff neck, Tachypnea, Trismus, Elev...	ORPHA:3299
Neu-Laxova Syndrome	Bifid uvula, Depressed nasal ridge, Osteopenia, Rickets, Retrognathia, Osteomalacia, Micrognathia...	ORPHA:2671
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Tibial metaphyseal irregularity, Short meta...	ORPHA:457395
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal form of the verteb...	ORPHA:52
Opitz Gbbb Syndrome	Wide nasal bridge, Unilateral cleft lip, Cleft upper lip, Rectourethral fistula, Anteverted nares...	OMIM:300000
Slc35A1-Cdg	Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Phocomelia, Schinzel Type	High, narrow palate, Micrognathia, Humeroradial synostosis, Tracheoesophageal fistula, Short nose...	ORPHA:2879
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Scoliosis, Kyphoscoliosis	OMIM:619574
Recombinant 8 Syndrome	Abnormality of the dentition, Depressed nasal bridge, Downturned corners of mouth, Cleft upper li...	ORPHA:96167
Holoprosencephaly 2	Bifid uvula, Proboscis, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilat...	OMIM:157170
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Sparse eyebrow, Narrow chest, Hypoplasia of the odontoid process, Fair h...	OMIM:250250
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Respiratory insufficiency, Emphysema, Reduced bone mineral density, Joint hy...	OMIM:613658
Joubert Syndrome 21	Hyperechogenic kidneys, Apnea, Bell-shaped thorax, Chronic sinusitis, Short ribs, Renal cyst, Dys...	OMIM:615636
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Multiple joint contractures, Hyperlordosis, Scoliosis, Kyphosis	OMIM:128100
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Genu valgum, Cyanosis, Proteinuria,...	ORPHA:488627
Glycine Encephalopathy With Normal Serum Glycine	Retrognathia, Elbow flexion contracture, Long eyelashes, Hip contracture, Joint hypermobility, Fl...	OMIM:617301
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Preaxial hand polydactyly, Renal insufficiency, Chordee, Miscar...	ORPHA:96179
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pectus carinatum, Recurrent respiratory infections, Hypertrichosis, Respiratory distress, Heparan...	ORPHA:505248
Zttk Syndrome	Wide nasal bridge, Bifid uvula, Hypoplasia of the maxilla, Abnormality of the dentition, Depresse...	OMIM:617140
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth	ORPHA:2348
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Thoracic hypoplasia, Limited elbow e...	ORPHA:15
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena...	ORPHA:2930
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Dental crowding, Retrognathia, Downturned corners of mouth, Widely spaced teeth,...	OMIM:301044
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Advanced eruption of teeth, Osteolytic defects of the phalanges of the hand, Narrow...	ORPHA:280365
Huntington Disease-Like 1	Abnormal shoulder morphology, Abnormal posturing	ORPHA:157941
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Mandibular prognathia, Cleft upper lip, Malar flattening, Oligodontia, Wide mo...	OMIM:201180
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal bone ossification, Metaphyseal dysplasia, Genu varum, Multiple joint contractures, Multi...	ORPHA:99646
Distal Deletion 19P	Short philtrum, Hypoplasia of the maxilla, Cleft palate, Joint hypermobility	ORPHA:96129
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Dental crowding, Long philtrum, Underdeveloped nasal alae, Bulbous nose, Pear-shaped ...	OMIM:190351
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:614594
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Atelectasis, Osteomyelitis, Pleural effusion, Air bronchogram	OMIM:306400
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Otopalatodigital Syndrome, Type Ii	Rudimentary fibula, Micrognathia, Short neck, Short hallux, Short metacarpal, Respiratory insuffi...	OMIM:304120
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Basilar Impression, Primary	Short neck, Kyphoscoliosis	OMIM:109500
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Opitz-Kaveggia Syndrome	Choanal atresia, Anal stenosis, Joint contracture of the hand, Dental crowding, Long philtrum, Cl...	OMIM:305450
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate, Thick vermil...	OMIM:613805
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Long philtrum, Prominent nose, Wide nasal ridge, Wide mouth	ORPHA:251061
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Arthrogryposis multiplex congenita, Cleft soft palate, Micrognathia, Narrow mouth, Hip contractur...	OMIM:619503
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Platyspondyly, Sparse scalp hair, Osteopenia, Congenital kyphoscol...	ORPHA:536471
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Macrogl...	OMIM:105830
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Limited knee flexion/extension, Limited...	OMIM:258315
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Long philtrum, Gingival overgrowth, Prominent nasal bridge, Protruding tongue,...	OMIM:619179
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Microretrognathia, Short thorax, Preaxial hand poly...	ORPHA:261344
22Q11.2 Deletion Syndrome	Carious teeth, Atelectasis, Abnormal lung lobation, Abnormal dental enamel morphology, Multiple s...	ORPHA:567
Ane Syndrome	Alopecia, Multiple joint contractures, Kyphoscoliosis	ORPHA:157954
Tetraamelia Syndrome 2	Microretrognathia, Ankyloglossia, Micrognathia, Bilateral cleft lip, Glossoptosis, Cleft palate	OMIM:618021
Shwachman-Diamond Syndrome	Osteopenia, Carious teeth, Delayed eruption of teeth, Osteomyelitis, Oral ulcer, Sinusitis, Steat...	ORPHA:811
Bacterial Toxic-Shock Syndrome	Pneumonia, Recurrent urinary tract infections, Respiratory distress, Osteomyelitis, Renal insuffi...	ORPHA:36234
Cowden Syndrome 6	Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, High...	OMIM:615109
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis	ORPHA:411703
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Micropenis, Death in childhood	OMIM:615597
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Wide nasal bridge, Carious teeth, Broad nasal tip, Long philtrum, Widely spa...	OMIM:615873
13Q12.3 Microdeletion Syndrome	Camptodactyly, Kyphoscoliosis	ORPHA:412035
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Respiratory insufficiency, Intraalveolar phospholipid accumulation, I...	OMIM:614370
Ruvalcaba Syndrome	Dental crowding, Synostosis of carpal bones, Narrow mouth, Convex nasal ridge, Thin vermilion bor...	ORPHA:3121
Cutis Laxa, Autosomal Recessive, Type Iic	Hypoplasia of the maxilla, Broad nasal tip, Dental crowding, Broad columella, Long philtrum, Narr...	OMIM:617402
Focal Dermal Hypoplasia	Broad nasal tip, Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Anteriorly plac...	OMIM:305600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Highly arched eyebrow, Sparse eyebrow, Limited hip extension, Camptodactyly of finger, Flexion co...	OMIM:143095
Intellectual Developmental Disorder, Autosomal Recessive 78	High palate, Kyphoscoliosis	OMIM:620237
Incontinentia Pigmenti	Hypodontia, Conical tooth, Delayed eruption of teeth, Oligodontia	OMIM:308300
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Long fingers, Long eyebrows,...	OMIM:614407
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Renal insufficiency, Cyanosis, Death in infancy, Renal cyst, Partial anomalous p...	OMIM:617478
Charge Syndrome	Choanal atresia, Anosmia, Depressed nasal bridge, Delayed eruption of teeth, Hypoplasia of the zy...	ORPHA:138
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Pectus carinatum, Broad thumb, Narrow chest, Monkey wrenc...	OMIM:615777
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Femoral bowing, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Pulm...	OMIM:615415
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Rhizomelia, Respiratory distress, Micrognathia, 3-Methylglutaconic aciduria,...	OMIM:616271
Lujo Hemorrhagic Fever	Stiff neck, Atelectasis	ORPHA:319213
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Rhyns Syndrome	Chronic kidney disease, Osteopenia, Nephronophthisis, Radial bowing, Renal insufficiency, Brachyd...	OMIM:602152
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Clubbing, Pleural...	ORPHA:2038
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal odontoid process morphology, Hirsutism, Delayed pubic bone ossification, Kyphoscoliosis	ORPHA:2976
Orofaciodigital Syndrome Iv	Lobulated tongue, Hamartoma of tongue, Micrognathia, High palate, Tongue nodules, Cleft palate, A...	OMIM:258860
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure	OMIM:614922
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Postaxial Acrofacial Dysostosis	Choanal atresia, Conical tooth, Cleft upper lip, Micrognathia, Malar flattening, Radioulnar synos...	OMIM:263750
Mosaic Trisomy 16	Hypospadias, Short forearm, Pulmonary hypoplasia, Craniofacial asymmetry, Short thumb, Clinodacty...	ORPHA:1708
Trisomy 18	Choanal atresia, Microretrognathia, Camptodactyly of finger, Narrow mouth, Anal atresia, Esophage...	ORPHA:3380
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Short nose	OMIM:611936
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:605711
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Carious teeth, Ureterocele, Sparse eyelashes, Ectodermal dysplasia, Duplicated co...	OMIM:604292
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cardiorespiratory arrest, Abnormal scapula morphology, Respiratory i...	ORPHA:93317
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Broad nasal tip...	ORPHA:363611
Arterial Tortuosity Syndrome	Rocker bottom foot, Respiratory distress, Avascular necrosis of the capital femoral epiphysis, Pr...	ORPHA:3342
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Chronic sinus...	ORPHA:420741
Weiss-Kruszka Syndrome	Horizontal crus of helix, Anteverted nares, Exaggerated cupid's bow, Broad philtrum, Short nose	OMIM:618619
Succinic Acidemia	Respiratory distress	OMIM:600335
Non-Acquired Isolated Growth Hormone Deficiency	Sparse hair	ORPHA:631
Gorlin Syndrome	Abnormal vertebral morphology, Mandibular prognathia, Carious teeth, Vertebral wedging, Abnormal ...	ORPHA:377
Spinocerebellar Ataxia, Autosomal Recessive 31	High palate, Lumbar kyphoscoliosis	OMIM:619422
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Larsen Syndrome	Pectus carinatum, Hip dislocation, Short nail, Hypoplastic cervical vertebrae, Tracheomalacia, Ac...	OMIM:150250
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Long philtrum, Villous atrophy, Wide mouth, Short nose	OMIM:608776
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Broad ribs, Spatulate ribs, Beaking of vertebral bodies, Hyperlor...	OMIM:619698
Alg3-Cdg	Osteopenia, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Arthrogryposis multiplex...	ORPHA:79321
Fryns Syndrome	Wide nasal bridge, Long philtrum, Duodenal atresia, Intestinal malrotation, Anteverted nares, Mic...	ORPHA:2059
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Tatton-Brown-Rahman Syndrome	Joint hypermobility, Thick eyebrow, Kyphoscoliosis	ORPHA:404443
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
Congenital Heart Block	Pleural effusion, Cyanosis	ORPHA:60041
Mowat-Wilson Syndrome	Wide nasal bridge, Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of t...	OMIM:235730
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw	ORPHA:199276
Geleophysic Dysplasia 1	Laryngotracheal stenosis, Joint contracture of the hand, Osteopenia, Cone-shaped epiphysis, Short...	OMIM:231050
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ...	ORPHA:96061
Hypocomplementemic Urticarial Vasculitis	Angioedema, Emphysema, Renal insufficiency, Pleural effusion, Hematuria, Proteinuria, Glomerulopa...	ORPHA:36412
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Limited wrist extension, Exertional dyspnea, Scapular wing...	ORPHA:98915
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Respiratory distress, Thin eyebrow, Micrognathia, Arachnodactyly, Absent eyebrow, D...	ORPHA:2707
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Cleft palate	OMIM:243440
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Apnea, Ketonuria, Cyanosis	OMIM:261680
Gm1 Gangliosidosis Type 1	Pectus carinatum, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Broad long bone diap...	ORPHA:79255
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Craniofacial osteosclerosis, Delayed eruption of tee...	ORPHA:1328
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent upper respiratory tract infections, Colonic diverticula, Persistence of pri...	OMIM:147060
Mullegama-Klein-Martinez Syndrome	Wide nasal bridge, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Depressed nas...	OMIM:301022
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Glossoptosis, Underdeveloped nasal alae, Short nose	ORPHA:2031
Tracheal Agenesis	Tracheal atresia, Aplasia/Hypoplasia of the lungs	ORPHA:3346
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractures, Bowing...	OMIM:166220
Dextrocardia	Congenital hip dislocation, Abnormal lung lobation, Abnormality of the ureter, Abnormality of the...	ORPHA:1666
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Broad thumb, Hypoplastic iliac wing, Micrognathia, Frontal upsweep of hair...	OMIM:180849
Microphthalmia, Syndromic 9	Renal hypoplasia, Agenesis of pulmonary vessels, Horseshoe kidney, Alveolar capillary dysplasia, ...	OMIM:601186
Acromesomelic Dysplasia 4	Platyspondyly, Rhizomelia, Short toe, Hypertrichosis, Short finger, Thoracic platyspondyly, Lumba...	OMIM:619636
Acrofacial Dysostosis, Palagonia Type	Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Sparse...	ORPHA:1787
Fontaine Progeroid Syndrome	Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Everted lower lip vermilion, Short...	OMIM:612289
Breath-Holding Spells	Cyanosis	OMIM:607578
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Alopecia totalis, Micrognathia, Absent eyelashes, A...	OMIM:263650
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Retrognathia, Distal shortening of limbs, Thick eyebrow, Thickened cortex...	ORPHA:488434
Dravet Syndrome	Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Carious teeth, Ureterocele, Sparse eyelashes, Ectodermal dysplasia, Duplicated co...	OMIM:129900
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Broad nasal tip, Long philtrum, Thick lower lip vermilion, Bulbous nose, ...	OMIM:309590
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu...	ORPHA:217563
Xylt1-Cdg	Broad thumb, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility, Short clavicles, H...	ORPHA:370930
Cree Impaired Intellectual Development Syndrome	Cleft soft palate, Micrognathia	OMIM:606851
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Cyanosis, Abnormality of the lower urinary ...	ORPHA:391428
Bathing Suit Ichthyosis	Alopecia, Sparse hair, Nail dystrophy	ORPHA:100976
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Micrognathia, Kyphoscolios...	ORPHA:254519
Frank-Ter Haar Syndrome	Osteopenia, Cortical irregularity, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prom...	OMIM:249420
Fraser Syndrome 1	Renal hypoplasia, Pulmonary hypoplasia, Dental malocclusion, Aplasia/Hypoplasia of the sternum, C...	OMIM:219000
Laryngotracheoesophageal Cleft	Dyspnea, Recurrent respiratory infections, Cyanosis	ORPHA:2004
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Long philtrum, Camptodactyly of finger, Bulbous nose, Micrognathia,...	ORPHA:77258
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Upper limb undergrowth...	ORPHA:94068
Neu-Laxova Syndrome 2	Depressed nasal ridge, High palate, Micrognathia, Cleft palate	OMIM:616038
Orofaciodigital Syndrome Type 1	Open bite, Micrognathia, Tarsal synostosis, High palate, Accessory oral frenulum, Choanal atresia...	ORPHA:2750
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft lip, Cleft upper lip, Micrognathia, Malar flattening, Anodontia, Microdontia, Hypodontia, A...	OMIM:225060
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Retrognathia, Underdeveloped nasal alae, Bulbous nose, Open mouth, ...	OMIM:192430
Aspartylglucosaminuria	Wide nasal bridge, Abnormality of the dentition, Carious teeth, Joint stiffness, Gingival overgro...	ORPHA:93
Occipital Horn Syndrome	Genu valgum, Pectus carinatum, Broad clavicles, Ureteral obstruction, Limited elbow extension, Li...	OMIM:304150
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Respiratory distre...	ORPHA:3206
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Short ribs, Postaxial polydact...	OMIM:616546
Hereditary Acrokeratotic Poikiloderma	Erythema, Abnormality of the urethra, Finger syndactyly, Dystrophic toenail, Camptodactyly of fin...	ORPHA:2907
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dental crowding, Retrognathia, Long p...	OMIM:617157
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Tooth agenesis, Micrognathia, Open mouth, Abnormality of the se...	ORPHA:570
Bosma Arhinia Microphthalmia Syndrome	Choanal atresia, Anosmia, Cleft lip, Dental malocclusion, Paranasal sinus hypoplasia, High palate...	OMIM:603457
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Anteverted nares, Submuc...	ORPHA:1340
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint hypermobility, High palate, Thoracic scoliosis, Kyphoscoliosis	ORPHA:300570
Basal Cell Nevus Syndrome 1	Irregular ossification of hand bones, Vertebral wedging, Kyphoscoliosis, Hemivertebrae, Hamartoma...	OMIM:109400
Coccidioidomycosis	Pneumonia, Respiratory distress, Broad ribs, Osteomyelitis, Exudative pleural effusion, Renal ins...	ORPHA:228123
Loeys-Dietz Syndrome 4	Retrognathia, Abnormal sternum morphology, Emphysema, Spondylolisthesis, Malar flattening, Joint ...	OMIM:614816
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplastic clavicle, Alopecia, Osteopenia, Rickets, Abnormal form of the vertebral bodies, Retrogna...	ORPHA:2636
Trisomy 8P	Bifid uvula, Recurrent upper respiratory tract infections, Depressed nasal bridge, Malrotation of...	ORPHA:264450
Treacher Collins Syndrome 1	Choanal atresia, Cleft soft palate, Micrognathia, Narrow mouth, Malar flattening, Wide mouth, Abn...	OMIM:154500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, High, narrow palate, Broad nasal tip, Downturned co...	OMIM:619950
Renal Hypodysplasia/Aplasia 1	Retrognathia, Bilateral renal agenesis, Proteinuria, Renal dysplasia, Pulmonary hypoplasia	OMIM:191830
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Bifid uvula, Choanal atresia, Limitation of joint mobility, Cranial hyperost...	ORPHA:2658
Intellectual Developmental Disorder, Autosomal Dominant 54	Widely spaced teeth, Dental crowding, Delayed eruption of primary teeth	OMIM:617799
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Total anomalous pulmonary venous return, Absence of ...	OMIM:306955
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Thick eyebrow, Synophrys	OMIM:611091
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology	ORPHA:1515
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Long philtrum, Elbow flexion contracture, Bulbous nose, Anteverted nares,...	ORPHA:508533
Isolated Atp Synthase Deficiency	Respiratory distress, Renal hypoplasia, 3-Methylglutaconic aciduria	ORPHA:254913
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Respiratory failure, Camptodactyly of finger	OMIM:604320
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Poor wound healing, Emphysema, Joint hypermobility, Arachno...	OMIM:219100
Native American Myopathy	Bifid uvula, Congenital contracture, Downturned corners of mouth, Micrognathia, Submucous cleft s...	ORPHA:168572
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Sparse hair, Small nail	OMIM:273400
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death...	OMIM:263200
Adenylosuccinase Deficiency	Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Wide mouth, Short nose	OMIM:103050
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Narrow chest, Stage 5 chronic kidney disease, Polydactyly, Brachydactyly, Short long bone	OMIM:613819
Mucopolysaccharidosis, Type Iiid	Recurrent upper respiratory tract infections, Coarse hair, Elbow flexion contracture, Facial hirs...	OMIM:252940
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar kyphosis, Platyspondyly, Rhizomelia, Thoracic hypoplasia, Thoracic platyspondyly, S...	OMIM:618019
Familial Adenomatous Polyposis 1	Carious teeth, Eruption failure, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po...	OMIM:175100
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Abnormal dental pul...	ORPHA:416
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Short hallux, Genu varum, Sparse medial ey...	OMIM:616268
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Horizontal inferior border of sca...	OMIM:250220
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair	OMIM:615280
Pallister-Killian Syndrome	Micrognathia, Everted lower lip vermilion, Anal atresia, Short nose, Thin upper lip vermilion, St...	OMIM:601803
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Cerebrocostomandibular Syndrome	Posterior rib gap, Neonatal respiratory distress, Carious teeth, Thoracic hypoplasia, Rib gap, El...	OMIM:117650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Renal insufficiency	ORPHA:79312
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Pleural effusion, Respiratory failure	ORPHA:542323
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lateral clav...	OMIM:211350
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Rhizomelia, Dental malocclusion, Flared metaphysis, Short finger, Joint stif...	OMIM:608940
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency due to muscle w...	ORPHA:308552
Robin Sequence With Cleft Mandible And Limb Anomalies	Bifid uvula, Microretrognathia, Cleft mandible, Prominent nose, Micrognathia, Narrow mouth, 4-5 m...	OMIM:268305
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Smooth philtrum, Shor...	OMIM:616430
Familial Dysautonomia	Osteolysis, Abnormal pleura morphology, Renal insufficiency, Glomerulopathy, Abnormality of the k...	ORPHA:1764
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Broad thumb, Finger clinodactyly, Flared metaphysis, Elbow contractur...	OMIM:617137
Congenital Myopathy 13	Kyphoscoliosis, High palate, Flexion contracture, Scoliosis, Cleft palate	OMIM:255995
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Primary Dystonia, Dyt4 Type	Kyphoscoliosis	ORPHA:98805
Adnp Syndrome	Urinary incontinence, Recurrent upper respiratory tract infections, Broad thumb, High anterior ha...	ORPHA:404448
Jung Syndrome	Low posterior hairline, Tracheal stenosis, Recurrent respiratory infections	ORPHA:2321
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Short nose	OMIM:618618
You-Hoover-Fong Syndrome	Cleft palate, Kyphoscoliosis	OMIM:616954
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Oligodontia, Thin upper lip vermilio...	OMIM:180500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst...	ORPHA:3253
Double Outlet Right Ventricle	Pulmonary artery atresia, Tachypnea, Cyanosis, Abnormality of cartilage of external ear	ORPHA:3426
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Microretrognathia, Rectovestibular fistula, Prominent palatine ridges, Anteverted ...	ORPHA:280633
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Toxic Epidermal Necrolysis	Erythema, Abnormality of the urethra, Respiratory distress, Abnormal pleura morphology, Renal ins...	ORPHA:537
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Depressed nasal bridge, Elbow flexion contracture, ...	OMIM:608328
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Sinusitis	OMIM:606763
Tularemia	Respiratory distress, Pneumonia, Pleural effusion	ORPHA:3392
Floating-Harbor Syndrome	Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Broad fingertip, Dislocated radial h...	ORPHA:2044
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Choanal stenosis, Pierre-Robin sequence	OMIM:620183
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Hypoplasia of the maxilla, Absent thumb, Cervical ribs, Emphysema, Lumbar hyperlo...	ORPHA:500150
Sclerosteosis 1	Broad clavicles, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Broad ribs,...	OMIM:269500
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening	OMIM:109120
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Poems Syndrome	Sclerosis of foot bone, Sclerosis of hand bone, Hypertrichosis, Metaphyseal sclerosis, Sclerosis ...	ORPHA:2905
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Cardiorespiratory arrest, Respiratory failure, Scapular winging	ORPHA:26791
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae, Ethylmalonic aciduria	OMIM:602473
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Pulm...	OMIM:233450
Down Syndrome	Abnormality of the dentition, Depressed nasal ridge, Depressed nasal bridge, Downturned corners o...	ORPHA:870
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Limited elbow extension, Osteoarthritis, Flared...	OMIM:602111
Cowden Syndrome 1	Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, High...	OMIM:158350
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Long philtrum, Intestinal malrotation, Short columella, Narrow mouth, Generali...	OMIM:601776
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Ridged nail, Nail d...	ORPHA:1010
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis, Mandibular aplasia, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Recurrent fractures, Kyphoscoliosis, Camptodactyly, Osteoporosis, High palate, Ky...	ORPHA:3063
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal sternum morphology, Abnormal tibia mor...	ORPHA:1335
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Choanal atresia, Microglossia, Anteriorly placed anus, Elbow flexio...	OMIM:151050
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Gout, Death in childhood, Convex nasal ridge, High palate, Wide mouth, Sh...	OMIM:300661
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura	ORPHA:90051
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent upper respiratory tract infections, Titubation, Abnormal posturing, Recurrent streptoco...	ORPHA:225147
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Orofaciodigital Syndrome I	Wide nasal bridge, Microretrognathia, Carious teeth, Cleft upper lip, Underdeveloped nasal alae, ...	OMIM:311200
Stt3B-Cdg	Respiratory distress, Micropenis	ORPHA:370924
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ...	ORPHA:1112
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Atlantoaxial instability, Congenital kyphoscoliosis, Kyphoscoliosis, Joint hypermobil...	ORPHA:536545
Mercury Poisoning	Respiratory distress, Acute kidney injury, Dyspnea, Interstitial pneumonitis	ORPHA:330021
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Cranial hyperostosis, Micrognathia, Osteopetrosis, Decreased osteoclast count, Increa...	OMIM:259720
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Flexion contracture, U-Shaped upper lip v...	OMIM:147791
Faciocardiorenal Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Narrow mouth, Smooth philtrum, Hypodontia, Cleft pa...	ORPHA:1973
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure	ORPHA:445038
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Fraser Syndrome	Toe syndactyly, Dental malocclusion, Finger syndactyly, Abnormality of the urinary system, Abnorm...	ORPHA:2052
Mgat2-Cdg	Osteopenia, Respiratory distress, Long eyelashes, Hirsutism, Hypoplastic nipples, Brachydactyly, ...	ORPHA:79329
Costello Syndrome	Pectus carinatum, Tracheomalacia, Respiratory insufficiency, Micrognathia, Barrel-shaped chest, L...	OMIM:218040
Relapsing Polychondritis	Alopecia, Limitation of joint mobility, Arthritis, Atelectasis	ORPHA:728
Monosomy 18Q	Joint hypermobility, Low anterior hairline, Kyphoscoliosis, Atlantoaxial abnormality, High palate	ORPHA:1600
Bloom Syndrome	Pneumonia, Bronchitis, Retrognathia, Micrognathia, Respiratory tract infection, Malar flattening,...	ORPHA:125
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema, Enlarged kidney	OMIM:261740
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Narrow mouth, Short nose	OMIM:613735
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Narrow chest, Renal hypoplasia, Abnormal pelvis bone ossification, Short thorax, Preaxial hand po...	ORPHA:93271
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint stiffness, Joint hypermobility, Triangular mouth, Short nose	OMIM:617988
Isolated Right Ventricular Hypoplasia	Dyspnea, Cyanosis, Hypoxemia, Clubbing	ORPHA:439
Cockayne Syndrome	Carious teeth, Dental malocclusion, Congenital contracture, Contractures of the large joints, Age...	ORPHA:191
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Interstitial emphysema, Micrognathia, Knee flexion contracture, Head titubation, ...	OMIM:619708
Cardiocranial Syndrome, Pfeiffer Type	Abnormal hair whorl, Sparse hair	ORPHA:2872
Branchiootic Syndrome	Lip pit, Micrognathia, Branchial fistula, Cleft palate	ORPHA:52429
Atrial Septal Defect, Ostium Primum Type	Clubbing of toes, Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, ...	ORPHA:99106
Noonan Syndrome 6	Low posterior hairline, Long eyebrows, Sparse hair, Curly hair	OMIM:613224
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Tachypnea, Organic aciduria	ORPHA:79242
Hartsfield Syndrome	Hypoplasia of the frontal bone, Cleft upper lip, Median cleft upper lip, Craniosynostosis, Cleft ...	OMIM:615465
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Charcot-Marie-Tooth Disease Type 4B2	Scoliosis, Tongue atrophy, Kyphoscoliosis	ORPHA:99956
Nijmegen Breakage Syndrome	Recurrent pneumonia, Retrognathia, Abnormal hair morphology, Low anterior hairline, Short neck, R...	ORPHA:647
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Vacterl With Hydrocephalus	Absence of the sacrum, Retrognathia, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Trac...	ORPHA:3412
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Limitation of joint mobility, Narrow mouth, Humeroradial synostosis, Radioulnar synostosis, Elbow...	ORPHA:95699
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Persist...	ORPHA:2785
Cutis Laxa, Autosomal Recessive, Type Ib	Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Death in childhood, Prominence ...	OMIM:614437
Arthrogryposis Multiplex Congenita 5	Elbow flexion contracture, Kyphoscoliosis, Short neck, Limitation of knee mobility, Camptodactyly...	OMIM:618947
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Atlantoaxial instability, Large joint hypermobilty, Cleft soft palate, Kyphoscoliosis...	OMIM:614557
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Pagod Syndrome	Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormal clavicle morphology, Abnormal...	ORPHA:991
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Recurrent pneumonia, Death in childhood, Death in infancy, M...	OMIM:612301
Neonatal Marfan Syndrome	Pectus carinatum, Neonatal respiratory distress, Emphysema, Micrognathia, Joint hypermobility, Fl...	ORPHA:284979
Ogden Syndrome	Flared nostrils, Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, High palat...	OMIM:300855
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Persistence of primary teeth, Decreased skull ossification, Calvarial osteoscleros...	ORPHA:93325
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Coarse hair, Abnormal clavicle morphology, Abnormal form of the verteb...	ORPHA:581
Intellectual Developmental Disorder, X-Linked 112	Volvulus, Joint hypermobility, Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:301111
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ...	OMIM:615512
Congenital Myopathy 1B, Autosomal Recessive	Pulmonary hypoplasia, Recurrent respiratory infections, Joint hypermobility	OMIM:255320
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Cyanosis, Hypospadias, Scrotal hypospadias	OMIM:250790
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Alopecia, Missing ribs, Abnormal rib morphology, Aplasia/Hypoplas...	ORPHA:1647
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai...	OMIM:257980
Tolchin-Le Caignec Syndrome	Wide nasal bridge, Prominent nose, Micrognathia, Narrow mouth, Submucous cleft hard palate, High ...	OMIM:618971
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary hypo...	ORPHA:139466
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Alopecia, Respiratory distress, Osteomyelitis, Interstitial pneumonitis, Nail dystroph...	ORPHA:37042
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal renal collecting system morphology, Methylmalonic aciduria, Recurrent respiratory infect...	ORPHA:17
Pericardial And Diaphragmatic Defect	Abnormal sternum morphology, Pectus excavatum, Pulmonary sequestration, Hypoxemia, Pulmonary hypo...	ORPHA:2847
Intellectual Developmental Disorder, Autosomal Dominant 65	Low posterior hairline, Thin eyebrow, Sparse hair, Synophrys	OMIM:619320
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Mowat-Wilson Syndrome	Tooth malposition, Open mouth, Prominent nasal tip, Everted lower lip vermilion, Depressed nasal ...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Open mouth, Depressed nasal tip, Flexion contracture, Short philtrum, Cleft pa...	ORPHA:261537
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Retrognathia, Camptodactyly of finger, Bulbous nose, Prominent nose, Micrognathia, S...	ORPHA:3047
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Ankyloglossia, Hip contracture, Knee flexion contracture, Kyphoscoliosis, Joint hypermobility, Cl...	ORPHA:488642
Pontine Tegmental Cap Dysplasia	Rib fusion, Head titubation, Scoliosis, Hemivertebrae	OMIM:614688
Laryngomalacia	Respiratory distress	OMIM:150280
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Respiratory distress, Hyperphosphaturia, Renal tubular dysfunction, De...	OMIM:220110
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Highly arched eyebrow, High anterior hairline, Abnormality of the ...	ORPHA:280
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, Mandibula...	ORPHA:1101
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Anteverted nares, Protruding tongue, Everted lower lip vermilion, Ma...	ORPHA:96147
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea	ORPHA:86812
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Abnormal pulmonary interstitial morphology, R...	ORPHA:209905
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Wide nasal bridge, Mandibular prognathia, Cleft upper lip, Camptodactyly of ...	ORPHA:373
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia	OMIM:612776
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Joint stiffness, Acrocyanosis	ORPHA:2400
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Micrognathia, Rib fusion, Craniosynostosis, Scoliosis	ORPHA:261197
Carnitine-Acylcarnitine Translocase Deficiency	Oliguria, Cyanosis, Sudden episodic apnea, Dicarboxylic aciduria	ORPHA:159
Holoprosencephaly 13, X-Linked	Micrognathia, Median cleft palate, Submucous cleft hard palate, Median cleft upper lip, Solitary ...	OMIM:301043
Chromosome 1P36 Deletion Syndrome, Proximal	Bifid nasal tip, Cleft lip, Anteverted nares, Micrognathia, Camptodactyly, High palate, Cleft palate	OMIM:619343
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Recurrent respirato...	OMIM:211530
Chops Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Tracheomalacia, Anteverted nares...	OMIM:616368
Microcephalic osteodysplastic primordial dwarfism, type III	Knee flexion contracture, Hip contracture, Kyphoscoliosis, Severe generalized osteoporosis, High ...	OMIM:210730
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Limitation of joint mobility, Lumbar hyperlordosis, Kyphoscoliosis, Joint hypermo...	ORPHA:457359
Carnitine Deficiency, Systemic Primary	Respiratory distress, Dicarboxylic aciduria	OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Respiratory insufficiency, Elbow flexion contracture, Knee flexion...	OMIM:608836
Renpenning Syndrome 1	Wide nasal bridge, Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb...	OMIM:309500
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Anuria, Respiratory distress, D...	ORPHA:340
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Narrow mouth, Orofacial cleft...	ORPHA:2166
Acrocephalopolydactylous Dysplasia	Micromelia, Postaxial hand polydactyly, Craniosynostosis, Extrapulmonary lobar sequestration, Enl...	OMIM:200995
Hydrolethalus Syndrome 1	Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Abnormal lung lobation, Tracheal s...	OMIM:236680
Atypical Progressive Supranuclear Palsy Syndrome	Kyphoscoliosis	ORPHA:99750
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex con...	OMIM:616866
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Decreased skull ossification, Sparse e...	ORPHA:3472
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Aplasia of the bladder, Horseshoe kidney, Renal cyst, Bilobed right l...	OMIM:612284
Cerebrocostomandibular Syndrome	Posterior rib gap, Neonatal respiratory distress, Tracheomalacia, Bell-shaped thorax, Micrognathi...	ORPHA:1393
Gardner Syndrome	Abnormality of the dentition, Esophageal carcinoma, Duodenal polyposis, Multiple gastric polyps, ...	ORPHA:79665
Khan-Khan-Katsanis Syndrome	Micrognathia, Tented upper lip vermilion, Triangular mouth, Joint contracture, Short nose	OMIM:618460
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Narrow mouth, Abnormal pa...	ORPHA:2719
Meier-Gorlin Syndrome 7	Pulmonary hypoplasia, Preaxial hand polydactyly, Breast aplasia, Thin eyebrow, Vesicoureteral ref...	OMIM:617063
Nicolaides-Baraitser Syndrome	High, narrow palate, Wide nasal base, Long philtrum, Thick lower lip vermilion, Widely spaced tee...	OMIM:601358
Cog1-Cdg	Osteopenia, Butterfly vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Short neck, Irreg...	ORPHA:263508
Dend Syndrome	Anteverted nares, Downturned corners of mouth, Long philtrum, Short nose	ORPHA:79134
Moderate Hemophilia A	Limitation of joint mobility, Spontaneous hematomas, Subcutaneous hemorrhage, Hip contracture, Sy...	ORPHA:169805
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Sparse eyelashes, Thick hair, Sparse hair	OMIM:607626
Marfan Syndrome	Pectus carinatum, Spontaneous pneumothorax, Osteopenia, Pulmonary artery dilatation, Retrognathia...	ORPHA:558
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Open mouth, Depressed nasal tip, Short philtrum, Flexion contracture, Cleft pa...	ORPHA:261552
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Underdevelop...	ORPHA:920
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Pelizaeus-Merzbacher Disease, Connatal Form	Titubation, Respiratory failure	ORPHA:280210
Alpha-Mannosidosis, Infantile Form	Pneumonia, Highly arched eyebrow, Pectus carinatum, Platyspondyly, Mandibular prognathia, Osteope...	ORPHA:309282
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Abnormal scapula morphology, Renal agenesis, Hypoplastic pelvis, Mi...	OMIM:273395
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Sparse eyebrow, Micrognathia, Low posterior hairline	OMIM:606164
Snakebite Envenomation	Respiratory failure	ORPHA:449285
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Head titubation, Respiratory failure	ORPHA:3240
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Thoracic hypoplasia, Elbow flexion contracture, Micrognathia, Malar flattening, Death in infancy,...	OMIM:300868
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy, Recurrent ...	OMIM:618426
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:224900
Mietens Syndrome	Wide nasal bridge, Joint stiffness, Elbow ankylosis, Short nose, Wide nose	ORPHA:2557
Catel-Manzke Syndrome	Bifid uvula, Cleft upper lip, Narrow naris, Narrow nose, Micrognathia, Narrow mouth, Joint hyperm...	OMIM:616145
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis	ORPHA:466722
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae, Ethylmalonic aciduria	ORPHA:51188
Pendred Syndrome	Nephropathy, Tracheal stenosis	ORPHA:705
Vater/Vacterl Association	Hypospadias, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnormal sternum morphol...	OMIM:192350
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema	ORPHA:100057
Cornelia De Lange Syndrome 6	Highly arched eyebrow, Sparse eyebrow, Pectus carinatum, Short 1st metacarpal, Macrodontia of per...	OMIM:620568
X-Linked Intellectual Disability, Armfield Type	Depressed nasal bridge, Downturned corners of mouth, Micrognathia, Wide mouth, Limited elbow exte...	ORPHA:85276
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:242700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Bifid uvula, Broad nasal tip, Long philtrum, Malar flattening, Joint hypermobi...	OMIM:620330
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Sandal gap, Supernumerary nipple, Pectus excavatum, 3-4 finger cutaneous syndacty...	OMIM:612530
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Paroxysmal dyspnea	ORPHA:444013
Meckel Syndrome, Type 1	Natal tooth, Cleft upper lip, Enlarged naris, Intestinal malrotation, Camptodactyly of finger, Mi...	OMIM:249000
Lamellar Ichthyosis	Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
3Q27.3 Microdeletion Syndrome	Kyphoscoliosis	ORPHA:397695
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Respiratory distress, Episodic tachypnea, Intermittent hyperventilati...	ORPHA:348
Witteveen-Kolk Syndrome	Flared nostrils, Hyperplasia of the maxilla, Narrow mouth, Open mouth, High palate, Short nose, W...	OMIM:613406
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Dental malocclusion, Dental crowding, Intestinal malrotation, Low han...	ORPHA:353281
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Micrognathia, Duplicated collecting system, Hypospad...	OMIM:270400
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Pathologic fracture, Cutis marmorata, Hyperoxaluria, Renal insufficiency, Hemat...	OMIM:259900
Matthew-Wood Syndrome	Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal lung morphology, Pulmonary hy...	ORPHA:2470
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Recurrent urinary tract infections, Horseshoe kidney, Abnormal ...	ORPHA:3310
Orofaciodigital Syndrome Xiv	Cleft lip, Microretrognathia, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Micrognat...	OMIM:615948
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Digeorge Syndrome	Recurrent pneumonia, Atelectasis, Micrognathia, Intervertebral disk degeneration, Recurrent sinus...	OMIM:188400
Aymé-Gripp Syndrome	Depressed nasal bridge, Limitation of joint mobility, Long philtrum, Narrow mouth, Oligodontia, T...	ORPHA:1272
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Sparse hair	ORPHA:284180
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Joint hemorrhage, Epiphyseal stippling, Short nose	OMIM:277450
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Reduced renal corticomedullary differentiation, Knee flexion contracture, W...	OMIM:618733
Fanconi Anemia, Complementation Group S	Long eyelashes, Sparse hair, Low anterior hairline	OMIM:617883
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Sparse hair, Fragile nails	OMIM:242150
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Respiratory distress, Proteinuria, Prolonged neonatal jaundice, Jaundi...	OMIM:274150
Aicardi Syndrome	Recurrent pneumonia, Block vertebrae, Sparse lateral eyebrow, Butterfly vertebrae, Prominence of ...	OMIM:304050
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas...	ORPHA:217346
Opsismodysplasia	Depressed nasal bridge, Joint stiffness, Abnormally ossified vertebrae, Short nose	ORPHA:2746
Marfan Syndrome	Pectus carinatum, Pulmonary artery dilatation, Retrognathia, Emphysema, Premature osteoarthritis,...	OMIM:154700
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Tracheal stenosis, Localized pulmonary hemorrhage, Sinusitis, Hemosi...	OMIM:608710
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Stomach cancer, Duo...	ORPHA:733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Downturned corners of mouth, Long philtrum, Tracheomalacia, Anteverted nares, Micrognathia, Thin ...	ORPHA:444077
Q Fever	Pneumonia, Respiratory distress, Osteomyelitis, Pleural effusion, Hematuria, Abnormal pulmonary i...	ORPHA:781
Primrose Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Downturned...	OMIM:259050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Tracheal stenosis, Bulbous tips of toes, 2-3 toe syndactyly, ...	ORPHA:163979
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Small hand, Multicystic kidney dysp...	ORPHA:1596
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Kyphoscoliosis, Multiple intestinal neurofibro...	ORPHA:252183
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Methylmalonic aciduria, Stage 5 chronic kidney disease, Tubulointerstitial ...	OMIM:251000
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Irregular respiration	OMIM:604377
Singleton-Merten Syndrome 1	Osteopenia, High anterior hairline, Shallow acetabular fossae, Expanded metatarsals with widened ...	OMIM:182250
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Back pain, Oligoar...	OMIM:106300
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Calcification of the auricular cartilage, Osteomalacia, Respiratory distress, C...	ORPHA:51608
Distal Deletion 12Q	High, narrow palate, Microglossia, Fine hair, Elbow flexion contracture, Kyphoscoliosis, Short ne...	ORPHA:96149
Chromosome 6Q24-Q25 Deletion Syndrome	Small hand, Sandal gap, Prominent fingertip pads, Respiratory distress, Sparse eyelashes, Low pos...	OMIM:612863
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Long philtrum, Joint stiffness, Micrognathia, Aplasia of the nasal bone, Jejunal a...	OMIM:618820
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Respiratory distress, Hematuria, Proteinuria, T...	ORPHA:90068
Nocardiosis	Pneumonia, Emphysema, Osteomyelitis, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure	ORPHA:31204
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis, Glomerular sclerosis, Abnormal renal physio...	OMIM:223900
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia	OMIM:267430
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Sparse hair	OMIM:617763
Meacham Syndrome	Horseshoe kidney, Scimitar anomaly, Congenital alveolar dysplasia, Death in childhood, Neonatal d...	OMIM:608978
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Hypermobility of inte...	OMIM:130050
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Hypoplasia of the maxilla, Cleft lip, Depressed nasal bridge, Retrognathia, Bila...	OMIM:616462
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ...	OMIM:150400
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture, Respiratory failure	ORPHA:88618
46,Xy Sex Reversal 6	Sparse axillary hair, Hirsutism	OMIM:613762
Fabry Disease	Nephropathy, Emphysema, Abnormal femur morphology, Renal insufficiency, Angiokeratoma, Hematuria,...	ORPHA:324
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Hypospadias	OMIM:619272
Alpha-1-Antitrypsin Deficiency	Emphysema, Bronchiectasis, Bronchitis	ORPHA:60
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal fingernail morphology, Alopecia, Sparse hair	ORPHA:659
Aicardi Syndrome	Block vertebrae, Cleft upper lip, Intestinal polyposis, Prominence of the premaxilla, Hiatus hern...	ORPHA:50
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Left unilambdoid synostosi...	OMIM:609942
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology	ORPHA:93958
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad nasal tip, Retrognathia, Underdeveloped nasal alae, Widely spaced teeth, Cleft soft palate,...	ORPHA:268261
Kindler Epidermolysis Bullosa	Erythema, Carious teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morph...	ORPHA:2908
Histiocytoid Cardiomyopathy	Pulmonary edema, Renal cyst, Tachypnea, Cyanosis	ORPHA:137675
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Dyspnea, Recurrent respira...	ORPHA:980
Mevalonic Aciduria	Kyphoscoliosis	OMIM:610377
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice	ORPHA:26793
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158310
Degcags Syndrome	Osteopenia, Retrognathia, Long philtrum, Tracheomalacia, Prominent nose, Micrognathia, Anteverted...	OMIM:619488
Auriculocondylar Syndrome 2B	Sparse hair, Synophrys	OMIM:620458
Branchiooculofacial Syndrome	Abnormality of the dentition, Depressed nasal bridge, Broad nasal tip, Cleft upper lip, Fusion of...	OMIM:113620
Hawkinsinuria	Sparse hair	OMIM:140350
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mouth, Perineal fistula, Lim...	OMIM:218600
Congenital Disorder Of Deglycosylation 1	Small hand, Chondroitin sulfate excretion in urine, Respiratory distress, Keratan sulfate excreti...	OMIM:615273
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Sub...	OMIM:300967
Adult-Onset Still Disease	Erythema, Interstitial pneumonitis, Proteinuria, Arthritis, Arthralgia/arthritis, Cartilage destr...	ORPHA:829
Congenital Tricuspid Valve Dysplasia	Respiratory failure, Anomalous pulmonary venous return, Respiratory failure requiring assisted ve...	ORPHA:555874
Lethal Congenital Contracture Syndrome 9	Joint contracture of the hand, Congenital contracture, Micrognathia, Thoracic kyphoscoliosis, Wri...	OMIM:616503
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood	OMIM:617186
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Retrognathia, Sacral dimple, Sparse eyelashes, Absent eyelashes, Rib fu...	ORPHA:544488
Peters Plus Syndrome	Depressed nasal bridge, Long philtrum, Cleft upper lip, Widely spaced teeth, Intestinal fistula, ...	ORPHA:709
Idiopathic Hypereosinophilic Syndrome	Angioedema, Swelling of proximal interphalangeal joints, Respiratory distress, Cutis marmorata, P...	ORPHA:3260
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral...	ORPHA:90349
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Wide nasal bridge, Carious teeth, Broad nasal tip, Downturned corners of mouth, Bulbous nose, Ant...	OMIM:619522
Alg12-Cdg	Hypospadias, Recurrent pneumonia, Sandal gap, Overlapping fingers, Clinodactyly of the 5th finger...	ORPHA:79324
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy	ORPHA:98813
Tuberous Sclerosis Complex	Chronic kidney disease, Generalized abnormality of skin, Respiratory distress, Stage 5 chronic ki...	ORPHA:805
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Listeriosis	Pneumonia, Stiff neck, Osteomyelitis, Back pain, Septic arthritis, Respiratory failure, Miscarriage	ORPHA:533
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Small hand, Limitation of joint mobility, Overlapping toe, Curly hair, Short foot, Renal dysplasi...	ORPHA:480880
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Wiedemann-Steiner Syndrome	Wide nasal bridge, Long philtrum, Thin upper lip vermilion, High palate, Hyperextensibility at el...	ORPHA:319182
Kbg Syndrome	Cervical ribs, Thoracic kyphosis, Thick eyebrow, Low anterior hairline, Low posterior hairline, R...	OMIM:148050
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Cyanosis	OMIM:619580
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Sparse hair	OMIM:613174
Leopard Syndrome 1	Limited elbow movement, Kyphoscoliosis, Short neck, Spina bifida occulta, Cleft palate	OMIM:151100
Vici Syndrome	Abnormal posturing, Micrognathia, Albinism, Recurrent respiratory infections, Hypopigmentation of...	OMIM:242840
Fraser Syndrome 2	Short neck, Short thorax, Respiratory failure, Low anterior hairline	OMIM:617666
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Sparse hair	OMIM:268020
Geleophysic Dysplasia 2	Limitation of joint mobility, Long philtrum, Joint stiffness, Thin upper lip vermilion, Smooth ph...	OMIM:614185
Leigh Syndrome	Alopecia, Hypertrichosis, Multiple joint contractures, Frontal hirsutism, Respiratory failure	ORPHA:506
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Sparse hair, Fine hair	ORPHA:1806
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Respiratory failure	OMIM:620327
Cardiogenic Shock	Oliguria, Cyanosis, Orthopnea, Dyspnea, Hypoxemia	ORPHA:97292
Molybdenum Cofactor Deficiency, Type B	Neonatal death, Short nose, Long philtrum, Thick vermilion border	OMIM:252160
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Sarcoidosis, Susceptibility To, 1	Bronchiectasis, Abnormal pulmonary interstitial morphology, Emphysema, Hypoxemia, Pleural effusio...	OMIM:181000
Joubert Syndrome 37	Sparse hair	OMIM:619185
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Classical Ehlers-Danlos Syndrome	Osteopenia, Poor wound healing, Bruising susceptibility, Abnormality of the temporomandibular joi...	ORPHA:287
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma...	ORPHA:185
Abetalipoproteinemia	Steatorrhea, Osteopenia, Fat malabsorption, Kyphoscoliosis	ORPHA:14
Complete Atrioventricular Septal Defect	Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia	ORPHA:1329
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Generalized abnormality of skin	ORPHA:367
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung...	ORPHA:3384
Popliteal Pterygium Syndrome	Bifid uvula, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Spina bifida occulta, Cleft palate	OMIM:119500
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B...	ORPHA:49
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Joint ...	ORPHA:2502
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Narrow chest, Knee flexion contracture, Hydronephrosis, Short long bone	OMIM:620454
Myasthenia Gravis	Dyspnea, Rheumatoid arthritis, Acrocyanosis, Glycosuria	ORPHA:589
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Lacticaciduria	OMIM:615595
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Thoracic hypoplasia, Hypertrichosis, Trident pelvis, Short humerus, Bowed humerus, ...	OMIM:619479
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Exaggerated median tongue furrow, Downt...	ORPHA:2729
Waardenburg Syndrome, Type 1	Supernumerary vertebrae, Premature graying of hair, Thick eyebrow, White forelock, Supernumerary ...	OMIM:193500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum, Convex n...	OMIM:619321
Myotonic Dystrophy 1	Respiratory distress, Frontal balding	OMIM:160900
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Cyanosis, 3-hydroxydicarboxylic aciduria, Death in infancy, Lacticaciduria, Hypospadias	OMIM:252010
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Peripheral ...	OMIM:118450
Cryptococcosis	Pneumonia, Respiratory distress, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusi...	ORPHA:1546
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Pulmonary hypoplasia, Hydroureter, Mesoaxial hand polydactyly, Hydron...	OMIM:236700
Autosomal Recessive Spastic Paraplegia Type 9B	Kyphoscoliosis	ORPHA:447760
Peters-Plus Syndrome	Facial hypertrichosis, Square pelvis bone, Micrognathia, Limited elbow movement, Short foot, Hypo...	OMIM:261540
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Carious teeth, Natal tooth, Dental malocclusion, Dental crowding, Intestinal malro...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Carious teeth, Natal tooth, Dental malocclusion, Dental crowding, Intestinal malro...	ORPHA:353277
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Spontaneous pneumothorax, Recurrent pneumonia, Recurrent urinary t...	ORPHA:731
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Papillon-Lefèvre Syndrome	Hypertrichosis, Abnormal fingernail morphology, Sparse body hair, Nail dystrophy, Generalized hir...	ORPHA:678
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Limitation of joint mobility, Purpura, Arthritis, Acrocyanosis, Urticaria	ORPHA:343
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis, Bilateral lu...	OMIM:611812
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Tracheoesophageal fistula, Hydronephrosis	ORPHA:210122
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Block vertebrae, Hypoplasia of the maxilla, Renal agenesis, Cervica...	OMIM:164210
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Finger syndactyly, 11 pairs of ribs, Micrognathia, 2-3 toe syndactyl...	OMIM:620025
Diamond-Blackfan Anemia	Wide nasal bridge, Depressed nasal bridge, Cleft lip, Cleft soft palate, Micrognathia, Adenocarci...	ORPHA:124
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return	ORPHA:99104
Jacobsen Syndrome	Wide nasal bridge, Broad columella, Long philtrum, Intestinal malrotation, Anteverted nares, Abno...	ORPHA:2308
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neonatal ...	OMIM:208540
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Sparse eyebrow, Narrow chest, Rhizomelia, Retrognathia, Micrognathia, Horizo...	OMIM:613610
Eosinophilic Fasciitis	Acrocyanosis, Arthritis	ORPHA:3165
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Ganglioneuromatosis, Kyphoscoliosis, Joint hypermobility, Aganglionic...	ORPHA:653
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Central hypoventilation, Cyanosis, Hypoventilation,...	ORPHA:293987
Neuroblastoma	Elevated urinary homovanillic acid, Respiratory distress, Pathologic fracture, Elevated urinary v...	ORPHA:635
Poliomyelitis	Stiff neck, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:2912
Pallister-Hall Syndrome	Bifid uvula, Choanal atresia, Cleft lip, Microretrognathia, Natal tooth, Microglossia, Depressed ...	ORPHA:672
Japanese Encephalitis	Abnormal pattern of respiration, Respiratory distress, Elbow flexion contracture, Stiff neck, Pul...	ORPHA:79139
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory failure, Respiratory tract infection, Respiratory failure requiring assist...	ORPHA:79138
Sandifer Syndrome	Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Sparse hair, Nail pits	OMIM:127550
Warburg Micro Syndrome 2	Flexion contracture, Prominent nasal bridge, Short nose	OMIM:614225
Neu-Laxova Syndrome 1	Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Toe syndac...	OMIM:256520
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair	OMIM:219150
Infantile Krabbe Disease	Respiratory failure	ORPHA:206436
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Hyperechogenic kidneys, Long eyelashes, Proteinuria, Short long bone, Moderate prot...	OMIM:301110
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Ruijs-Aalfs Syndrome	Sparse hair, Premature graying of hair	OMIM:616200
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Hematuria, Proteinuria, Glomerulonephritis, Membran...	ORPHA:48435
Wiedemann-Rautenstrauch Syndrome	Abnormality of the dentition, Osteopenia, Natal tooth, Downturned corners of mouth, Retrognathia,...	ORPHA:3455
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Nasal mucosa te...	OMIM:187300
Criss-Cross Heart	Abnormal thorax morphology, Cyanosis	ORPHA:1461
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair	OMIM:613451
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair	OMIM:250410
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency	ORPHA:746
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognathia, Decreased...	OMIM:216340
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:610505
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Sparse hair, Periungual erythema, Nail dystrophy	OMIM:615934
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Delayed eruption of primary teeth, Microdontia, Absence of Stensen duc...	OMIM:149730
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Pulmonary edema, Dyspnea	OMIM:115197
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Adams-Oliver Syndrome	Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail	ORPHA:974
Noonan Syndrome 1	High, narrow palate, Kyphoscoliosis, Low posterior hairline, Synovitis, Short neck, High palate, ...	OMIM:163950
Biotinidase Deficiency	Alopecia, Organic aciduria, Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Progressive ...	ORPHA:522077
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Erythema, Retrognathia, Respiratory distress, Abnormal dental enamel m...	ORPHA:2556
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha...	OMIM:601214
Amyotrophic Lateral Sclerosis	Respiratory failure	ORPHA:803
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea	ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Micrognathia, Death in early adulthood, Radioulna...	ORPHA:904
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Incr...	ORPHA:99125
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Noonan Syndrome 14	Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair	OMIM:619745
Proteus Syndrome	Rib exostoses, Pulmonary cyst, Carious teeth, Finger syndactyly, Generalized hirsutism, Abnormal ...	ORPHA:744
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Respiratory distress, Elevated urine 3-hydroxypropionic acid l...	OMIM:251100
Autosomal Dominant Cutis Laxa	Osteopenia, Unilateral renal agenesis, Bronchiectasis, Peripheral pulmonary artery stenosis, Bron...	ORPHA:90348
Lymphatic Malformation 7	Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion	OMIM:617300
Short Syndrome	Alopecia, Sparse hair	ORPHA:3163
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea	ORPHA:247257
ERI1-related disease	Sparse hair, Anonychia, Low anterior hairline	OMIM:608739
Microphthalmia, Syndromic 3	Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio...	OMIM:206900
Fucosidosis	Mucopolysacchariduria, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Macs Syndrome	Alopecia, Sparse hair, Sparse eyebrow	OMIM:613075
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Emphysema, Abnormality of the pulmonary artery, ...	ORPHA:363618
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis	ORPHA:1572
Cardiac Valvular Dysplasia 1	Hydroureter, Urethral diverticulum, Cyanosis, Hydronephrosis, Pulmonary artery atresia	OMIM:212093
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Incisor macrodontia	ORPHA:438216
Floating-Harbor Syndrome	Ivory epiphyses of the distal phalanges of the hand, Long eyelashes, Kyphoscoliosis, Low posterio...	OMIM:136140
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Limb-Mammary Syndrome	Bifid uvula, Cleft lip, Malar flattening, Submucous cleft soft palate, Hypodontia, Cleft hard pal...	ORPHA:69085
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Respiratory distress, Renal insufficiency, Glomerulopathy, Jau...	ORPHA:79282
Eisenmenger Syndrome	Respiratory distress, Renal insufficiency, Cyanosis, Aortopulmonary window, Exertional dyspnea, H...	ORPHA:97214
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Molybdenum Cofactor Deficiency, Type A	Short nose, Long philtrum, Thick vermilion border	OMIM:252150
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Brachydactyly, Nasal flaring, Pelvic kidney, Dilatation of renal calices, Short palm, Synophrys	ORPHA:466943
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication, Pulmonary artery stenosis, Cervical ribs	ORPHA:2255
Williams-Beuren Syndrome	Depressed nasal bridge, Colonic diverticula, Broad nasal tip, Dental malocclusion, Osteopenia, Lo...	OMIM:194050
Revesz Syndrome	Ridged fingernail, Fine hair, Nail dystrophy, Sparse hair, Nail pits	OMIM:268130
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Bone cyst, Kyphoscoliosis, Joint hypermobility, Hyperlordosis, High palate, Scoliosis	ORPHA:363700
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C...	OMIM:616749
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Ketonuria, Methylmalonic aciduria	OMIM:251110
Congenital Disorder Of Glycosylation, Type Iia	Long eyelashes, Sparse hair, Thick eyebrow, Hirsutism	OMIM:212066
Reactive Arthritis	Recurrent urinary tract infections, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, D...	ORPHA:29207
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Wide nasal bridge, Short uvula, Ankyloglossia, Bulbous nose, Anteverted nare...	OMIM:619475
Hamamy Syndrome	Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Sparse eyelashes, Low pos...	OMIM:611174
Sotos Syndrome	Abnormality of the dentition, Ankle flexion contracture, Agenesis of permanent teeth, Hip contrac...	ORPHA:821
Cardiac Diverticulum	Partial anomalous pulmonary venous return, Pulmonary artery stenosis, Pulmonary artery hypoplasia...	ORPHA:1686
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Pulmonary infiltrates, Abnormal lung morphology,...	ORPHA:646
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Multiple Mitochondrial Dysfunctions Syndrome 7	Apnea, Cyanosis	OMIM:620423
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Respiratory distress, Gout, Renal tubular acidosis,...	ORPHA:358
Colchicine Poisoning	Respiratory distress, Alopecia, Oliguria, Renal insufficiency	ORPHA:31824
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior...	OMIM:617506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Synostosis involving the 1st metacarpal, Supernumerary nipple, Joint hypermo...	ORPHA:466791
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, 4-Hydroxyphenylpyruvic aciduria, Jaundice, 4-hydroxypheny...	OMIM:617156
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Anteverted nares, Short nose	ORPHA:3339
Cutis Laxa, Autosomal Recessive, Type Iid	Camptodactyly, Joint contracture, Kyphoscoliosis	OMIM:617403
Unilateral Polymicrogyria	Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Ramos-Arroyo Syndrome	Respiratory distress, High anterior hairline, Carious teeth, Sparse scalp hair	ORPHA:1051
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Multiple glomerular cysts, Episodic respiratory distress, Abnormal renal tubule morphology...	ORPHA:255210
3-Methylglutaconic Aciduria, Type Viii	Respiratory arrest, Respiratory failure, Death in infancy, Neonatal death	OMIM:617248
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Painless fractures due to injury, Respiratory distress, Increased susceptibility to fractures, Pr...	OMIM:256810
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Cranioectodermal Dysplasia 3	Short nail, Sparse hair, Fine hair, Broad nail	OMIM:614099
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis, Knee flexion contracture	OMIM:617239
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia	ORPHA:250999
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Abnormal cartilage morphology, Abnormal eyelash morphology, ...	ORPHA:2396
Renal Agenesis, Bilateral	Tracheoesophageal fistula, Renal agenesis, Pulmonary hypoplasia	ORPHA:1848
Trichohepatoenteric Syndrome 1	Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Brittle hair, Woolly hair	OMIM:222470
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop...	ORPHA:2232
Viss Syndrome	Genu valgum, Micrognathia, Contracture of the proximal interphalangeal joint of the 2nd toe, Arac...	OMIM:619472
Dermatomyositis	Erythema, Alopecia, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Facial erythema, Telan...	ORPHA:221
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Pneumonia, Trichiasis, Gene...	ORPHA:95455
Microphthalmia, Syndromic 1	Joint contracture of the hand, Narrow chest, Hydroureter, Prominent fingertip pads, Clinodactyly,...	OMIM:309800
Acromesomelic Dysplasia 1	Limited elbow extension, Short nose, Joint hypermobility	OMIM:602875
Sarcoidosis	Nephrocalcinosis, Bronchiectasis, Chylothorax, Alopecia, Emphysema, Abnormal pleura morphology, R...	ORPHA:797
Double Outlet Left Ventricle	Pulmonary artery stenosis, Tachypnea, Cyanosis	ORPHA:3427
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Limited elbow extension, Malar flattening, Hyperlordosis, Synophrys	OMIM:301066
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Recurrent upper respiratory tract infections, Limitation of joint ...	ORPHA:217085
Weaver Syndrome	Fine hair, Sparse hair, Thin nail, Deep-set nails	OMIM:277590
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Calcification of cartilage, Joint stiffness, D...	ORPHA:56
White-Sutton Syndrome	Sparse hair	OMIM:616364
Teebi-Shaltout Syndrome	Highly arched eyebrow, Sparse hair, Slow-growing hair, Low anterior hairline	OMIM:272950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Pulmonary...	OMIM:619351
Bone Marrow Failure Syndrome 3	Nail dystrophy, Sparse hair, Small nail, Aplasia/Hypoplasia of the eyebrow	OMIM:617052
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad ribs, Sclerosis of skull base, Increased intervertebral space, Thin bony cor...	OMIM:619727
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,...	OMIM:123700
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Recurrent upper respiratory tract infections, Limitation of joint ...	ORPHA:217093
Alternating Hemiplegia Of Childhood	Respiratory distress, Thin eyebrow, Apnea, Flushing	ORPHA:2131
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Craniofacial asymmetry, Abnormal form of the vertebral bodies, Short thumb...	OMIM:194190
Kid Syndrome	Trichilemmoma, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Scarring alopecia of scalp, Spar...	ORPHA:477
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Long eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:607721
Charge Syndrome	Renal hypoplasia, Bifid femur, Short thumb, Renal agenesis, Absent radius, Horseshoe kidney, Micr...	OMIM:214800
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sparse hair, Hirsutism, Toenail dysplasia, Synophrys	OMIM:300966
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Sparse hair, Sparse scalp hair	OMIM:612132
Townes-Brocks Syndrome	Broad thumb, Toe syndactyly, Abnormality of the kidney, Hypospadias, Ectopic kidney, Absent toe, ...	ORPHA:857
Scalp-Ear-Nipple Syndrome	Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha...	OMIM:181270
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria	ORPHA:100050
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Sparse hair, Small nail, Nail dysplasia	OMIM:614813
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Fine hair, Brittle hair	OMIM:618891
Steinert Myotonic Dystrophy	Alopecia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Early bald...	ORPHA:273
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter...	OMIM:610655
Cardiac-Urogenital Syndrome	Tracheomalacia, Scimitar anomaly, 2-3 toe syndactyly, Penoscrotal hypospadias, Partial anomalous ...	OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Dpagt1-Cdg	Clinodactyly, Hypertrichosis, Arachnodactyly, Camptodactyly, Osteoporosis, Flexion contracture, P...	ORPHA:86309
Agel Amyloidosis	Sparse hair, Nail dystrophy	ORPHA:85448
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair	OMIM:616541
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Leptospirosis	Acute kidney injury, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Cellular urina...	ORPHA:509
Pmm2-Cdg	Osteopenia, Nephrotic syndrome, Retrognathia, Aspiration pneumonia, Respiratory distress, Multipl...	ORPHA:79318
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Pulmonary hypoplasia	OMIM:313850
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Sparse hair, Fine hair	ORPHA:444072
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Nail dystrophy, Alopecia of scalp	ORPHA:436252
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Protruding tongue, Kyphoscoliosis, Short neck, Macroglossia, High palate	OMIM:309580
Aicardi-Goutières Syndrome	Cutis marmorata, Multiple joint contractures, Prolonged neonatal jaundice, Arthritis, Micropenis,...	ORPHA:51
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Alström Syndrome	Chronic kidney disease, Frontal balding, Glomerulonephritis, Urinary incontinence, Abnormality of...	ORPHA:64
1P36 Deletion Syndrome	Horizontal eyebrow, Camptodactyly of finger, Abnormal eyebrow morphology, 11 pairs of ribs, Joint...	ORPHA:1606
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Bruising susceptibility, Osteolysis, Apnea, Cystocele, Joint hyperm...	ORPHA:285
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Low posterior hairline, Highly arched eyebrow, Sparse hair, Fine hair	OMIM:613563
Kasabach-Merritt Phenomenon	Hypopnea, Hypertrichosis, Respiratory distress, Petechiae, Purpura	ORPHA:2330
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Fusion of middle ear ossicles, Herniation of intervertebral nuclei, Joint hype...	OMIM:157800
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Horizontal eyebrow, Abnormal lung lobation, Camptodactyly of finger, Abnormalit...	OMIM:607872
Monosomy 22	Sparse hair, Synophrys	ORPHA:96123
Hardikar Syndrome	Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera...	OMIM:301068
Woodhouse-Sakati Syndrome	Alopecia, Sparse hair, Fine hair	OMIM:241080
Cranioectodermal Dysplasia 1	Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair	OMIM:218330
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Sparse body hair	ORPHA:432
Igg4-Related Thyroid Disease	Tracheal stenosis	ORPHA:64744
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Sparse hair, Nail dystrophy	ORPHA:158668
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia	OMIM:164310
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Long eyelashes, Low anterior hairl...	OMIM:619841
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Thin eyebrow...	ORPHA:2273
Lipodystrophy, Familial Partial, Type 7	Narrow nasal ridge, Narrow mouth, Short nose	OMIM:606721
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Sparse hair	OMIM:200110
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Sparse hair	OMIM:619869
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse axillary hair, Sparse pubic hair, Sparse body hair	ORPHA:90796
Plague	Respiratory distress, Acute infectious pneumonia, Arthritis	ORPHA:707
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	OMIM:210710
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Roberts Syndrome	Sparse hair	ORPHA:3103
Leprosy	Loss of eyelashes, Alopecia, Absent eyebrow, Sparse body hair	ORPHA:548
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Sparse hair	OMIM:616682
Trichorhinophalangeal Syndrome, Type Ii	Thick eyebrow, Alopecia of scalp, Sparse hair, Sparse scalp hair, Fragile nails	OMIM:150230
Holt-Oram Syndrome	Long philtrum, Cleft soft palate, Micrognathia, Limited elbow extension, Cervical C2/C3 vertebral...	OMIM:142900
Roberts-Sc Phocomelia Syndrome	Sparse hair	OMIM:268300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Trps1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trps1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Trps1^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Trps1^{em1(IMPC)Wtsi}	PMC6671969

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Trps1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Trps1^{tm95260(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Trps1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trps1^{em1(IMPC)Wtsi}	Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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