Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, complete penetrance Trps1em1(IMPC)Wtsi HOM   Early adult 0.00
decreased fasting circulating glucose level Trps1em1(IMPC)Wtsi HET Early adult 1.57×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Human diseases caused by Trps1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
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
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Hypotrichosis 2
Abnormality of the nail, Sparse scalp hair OMIM:146520
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia 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
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis 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
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Ichthyosis--Cheek--Eyebrow Syndrome
Sparse lateral eyebrow, High palate, Kyphoscoliosis OMIM:146720
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Lowry-Maclean Syndrome
Convex nasal ridge, Cleft palate, Craniosynostosis, Delayed eruption of teeth OMIM:600252
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion ORPHA:2015
Teebi Hypertelorism Syndrome 2
Short nose, Delayed eruption of teeth, Wide anterior fontanel, High palate, Everted lower lip ver... OMIM:619736
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
17Q21.31 Microduplication Syndrome
Short nose, Short philtrum, Anteverted nares, High palate, Abnormality of the dentition, Microgna... ORPHA:217340
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Anteverted nares, Enamel hypoplasia, Long philtr... OMIM:166750
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypertrichosis, Congenital Generalized, 2
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis, Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior c... OMIM:117850
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Increased overbite, Anteverted nares, Camptodactyly... OMIM:618761
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint hypermobility, Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Delayed eruption of teeth, Mandibular prog... OMIM:265900
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Dystrophic fingernails, Sparse scalp hair OMIM:614927
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Absent eyebrow OMIM:620199
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Anal ... 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
Short philtrum, Delayed eruption of teeth, Osteoporosis, Prominent nasal bridge, Dentinogenesis i... ORPHA:71267
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Atelectasis, Thin ribs, Death in infancy, Neonatal death, Joint hypermobility OMIM:300219
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Thoracic hypoplasia, Joint hypermobility, Broad ribs, Rhizomelia, Scol... OMIM:613848
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age... ORPHA:1248
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Decreased cranial base ossification, Rhizomelia, Narrow chest, Severe limb shortening... OMIM:151210
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Aredyld
Generalized hypotrichosis OMIM:207780
Lethal Osteosclerotic Bone Dysplasia
Short nose, Retrognathia, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula... ORPHA:1832
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Short nose, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Thick vermilion border, Delaye... OMIM:618506
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Odontochondrodysplasia
Retrognathia, Short nose, Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta,... ORPHA:166272
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory distress, Chronic sinusitis OMIM:615294
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Non-Distal Duplication 10Q
Short nose, High palate, Everted lower lip vermilion, Micrognathia, Joint hypermobility, Convex n... ORPHA:1695
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:184260
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Multiple Pterygium Syndrome, X-Linked
Short finger, Thin ribs, Micrognathia, Pulmonary hypoplasia, Abnormal cervical curvature, Vertebr... OMIM:312150
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Low hanging columella, Dental crowding, Anteverted nares, High palate,... OMIM:618825
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang... OMIM:613849
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Flynn-Aird Syndrome
Kyphoscoliosis, Alopecia of scalp, Increased bone mineral density, Osteoporosis, Joint stiffness,... OMIM:136300
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Stiff neck, Vertebral wedging, Joint stiffness, Plat... OMIM:616583
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Mandibular prognathia, Bony paranasal bossing, Nasal congestion, Depressed... OMIM:218400
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis OMIM:261800
Tetrasomy 12P
Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Anteverted nares, Everted... ORPHA:884
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Bell-shaped thorax, Respiratory insufficiency, Recurrent fractur... OMIM:166210
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Premature loss of teeth, Mandibular prognathia, Gingiv... ORPHA:137834
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Osteogenesis Imperfecta, Type Iii
Thin ribs, Scoliosis, Kyphosis, Biconcave vertebral bodies, Multiple prenatal fractures, Decrease... OMIM:259420
14Q11.2 Microdeletion Syndrome
Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Micr... ORPHA:261120
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ulna, Ab... ORPHA:958
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Kyphos... ORPHA:1354
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology, Synophrys, Thick eyebrow, Radioulnar synost... ORPHA:3268
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Long clavicles, Bell-shaped thorax, Thin ribs, Frontal hirsutism, H... OMIM:608149
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Multiple Pterygium Syndrome, Lethal Type
Short finger, Thin ribs, Micrognathia, Pulmonary hypoplasia, Abnormal cervical curvature, Vertebr... OMIM:253290
Temple-Baraitser Syndrome
Everted upper lip vermilion, Wide nose, Delayed eruption of teeth, Anteverted nares, Gingival ove... ORPHA:420561
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Joint hypermobility, Hip osteoarthritis, Delayed eruption of teeth ORPHA:63442
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Sparse... OMIM:614237
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Long eyelashes, Biconcave vertebral bodies, Generalize... 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
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Laron Syndrome
Delayed eruption of teeth, Depressed nasal ridge, Tooth agenesis, Microdontia, Micrognathia, Oste... ORPHA:633
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse... OMIM:224300
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Aarskog-Scott Syndrome
Orofacial cleft, Delayed eruption of teeth, Anteverted nares, Everted lower lip vermilion, Abnorm... ORPHA:915
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Hip contracture, Ankle con... OMIM:620386
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Generalized bone demineralization, Narrow chest, Abnormal form of the... ORPHA:73230
3M Syndrome
Hypoplasia of the ulna, Increased vertebral height, Delayed eruption of teeth, Short thorax, Abno... ORPHA:2616
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Narrow mouth, Microdontia, Micrognathia, Open mouth, Delayed erupti... OMIM:619356
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Joint hypermobility, Scoliosis, Thin ribs, Delaye... OMIM:618395
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate OMIM:612913
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex congenita OMIM:217150
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal intervertebral disk morphology, Narrow chest, Abnorma... ORPHA:2635
Severe Congenital Nemaline Myopathy
Thin ribs, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Respiratory fa... ORPHA:171430
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Bilat... 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
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Depressed na... ORPHA:181
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis, Chronic sinusitis OMIM:300455
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Coffin-Siris Syndrome 3
Wide nose, Joint hypermobility, Anteverted nares, High palate, Cleft palate, Wide mouth, Thick ve... OMIM:614608
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Scoliosis, Death in adolescence, Respiratory insufficiency due to muscle weaknes... OMIM:300717
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Thin ribs, Pectus excavatum, Kyphosis, Coronal craniosyn... OMIM:616294
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Thin ribs, Hypoplasia of the calcaneus, Decreased skull ossificatio... OMIM:300863
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Respiratory insufficiency, Joint hypermobility, Thin ribs, Retrognathia ORPHA:456328
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Osteoporosis, Depressed nasal bridge, Delayed eruption of teeth OMIM:612463
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis OMIM:311895
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Maxillonasal Dysplasia, Binder Type
Short nose, Dental malocclusion, Depressed nasal bridge, Short columella OMIM:155050
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Respiratory insufficiency, Hyperextensibility of the finger joints, Pectus carinatu... OMIM:313420
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:3019
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Thin ribs, Decreased calvarial ossification, Micrognathia, Craniosynostosis, Arthro... OMIM:618265
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Atlantoaxial dislocation, Jo... OMIM:600561
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition, Osteolysis ORPHA:2776
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Wide nose, Anteverted nares... OMIM:614607
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Delayed eruption of teeth, Dental crowding, Anteverted nares, High palate, Campt... OMIM:616354
Fibrochondrogenesis 1
Stillbirth, Fibular hypoplasia, Long clavicles, Rhizomelia, Thin clavicles, Small hand, Thin ribs... OMIM:228520
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Decreased skull ossification, Cortical thick... ORPHA:93324
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth OMIM:619489
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Death in childhood, Delayed eruption of teeth, Elbow flexion contracture, ... OMIM:214150
Metatropic Dysplasia
Kyphoscoliosis, Short finger, Caudal appendage, Relatively short spine, Narrow chest, Respiratory... OMIM:156530
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Short nose, Micrognathia, High palate ORPHA:2598
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Spinal rigidity, Shoulder flexion contracture, Thin ribs, Scoliosis, Pleural effusi... OMIM:620369
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Pyknoachondrogenesis
Stillbirth OMIM:265880
Three M Syndrome 2
Delayed eruption of teeth, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular win... OMIM:612921
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Tongue atrophy, Knee flexion contracture ORPHA:496689
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short finger, Thin ribs, Thoracic kyphosis, Prominent sternum, Anterior rib cuppi... OMIM:300232
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Anteverted nares, Joint stiffness, ... ORPHA:2107
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, ... ORPHA:141152
Fetal Akinesia Deformation Sequence 4
Retrognathia, High palate, Camptodactyly, Prenatal death, Micrognathia, Neonatal death, Arthrogry... OMIM:618393
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O... OMIM:137550
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bone morphology, Craniofacial h... ORPHA:2790
Craniolenticulosutural Dysplasia
Thin vermilion border, Wide nose, Delayed eruption of teeth, Premature loss of teeth, High palate... ORPHA:50814
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood OMIM:253300
Ullrich Congenital Muscular Dystrophy 2
Joint hypermobility, High palate, Flexion contracture, Kyphoscoliosis OMIM:616470
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Hirsutism, Lumbar scoliosis, Irregular vertebral endplates, Platyspondyly OMIM:612847
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Thin ribs, Death in infancy, Short palm, Micrognathia, Platyspondyly, Short foot ORPHA:163966
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Tarp Syndrome
Rocker bottom foot, Horseshoe kidney, Finger syndactyly, Pectus excavatum, Postaxial polydactyly,... ORPHA:2886
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Stickler Syndrome Type 1
Short nose, Hypoplasia of the maxilla, Cleft palate, Osteoarthritis, Long philtrum, Joint hypermo... ORPHA:90653
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Delayed eruption of teeth, High palate, Camptodactyly of finger, Bifid uvula, Hypodon... OMIM:612350
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, High, narrow palate, Short nose, Craniosynostosis, Midgut malrotation, ... ORPHA:2409
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Craniolenticulosutural Dysplasia
Osteopenia, Joint hypermobility, Delayed eruption of teeth, Wide anterior fontanel, Anteverted na... OMIM:607812
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Increased bone mineral density, Osteolytic defects of the ... OMIM:265800
Craniofacial-Deafness-Hand Syndrome
Short nose, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxilla, Camptodactyly of fing... ORPHA:1529
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, High, narrow palate, Osteopetrosis, Spina bifida occulta, Delayed eruption of teeth... ORPHA:2780
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Broad nasal tip, Malar flattening, Open mouth OMIM:613670
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis OMIM:300844
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Abno... ORPHA:49042
Bardet-Biedl Syndrome 16
Polydactyly, Recurrent respiratory infections, Respiratory distress, Bronchiolitis, Renal cyst, R... OMIM:615993
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Thin ribs, Decreased skull ossification... OMIM:244460
Lethal Congenital Contracture Syndrome 5
Respiratory insufficiency, Thin ribs, Death in infancy, Congenital contracture, Flexion contracture OMIM:615368
Garg-Mishra Progeroid Syndrome
Narrow chest, Thin ribs, Micrognathia, Ovoid vertebral bodies, Sparse hair, Platyspondyly OMIM:620601
Congenital Myopathy 23
Kyphoscoliosis, High palate, Flexion contracture OMIM:609285
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, High, narrow palate, Hypermobility of interphalangeal joints, Atlantoaxial abnorm... ORPHA:3433
Immunodeficiency 95
Ground-glass opacification, Recurrent viral upper respiratory tract infections, Recurrent viral p... OMIM:619773
Codas Syndrome
Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol... ORPHA:1458
Scarf Syndrome
Pectus carinatum, Hypoplastic nipples, Low posterior hairline, Enamel hypoplasia, Short sternum, ... ORPHA:3134
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Nail dystrophy, Dental malocclusion, Thin ribs, Scoliosis, Osteolytic def... OMIM:614008
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate ORPHA:2016
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, Anteverted nar... OMIM:618342
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Abnormal palate morphology, Narrow mouth, Death in infancy, Camptodactyly of finger, ... ORPHA:1495
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Tracheobronchomalacia... ORPHA:70589
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Pulmonary hypoplasia, Block verteb... OMIM:271520
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/... ORPHA:1818
Nemaline Myopathy 7
Kyphoscoliosis, High palate, Lumbar hyperlordosis, Knee flexion contracture OMIM:610687
Jeune Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Nephronophthisis, Narrow chest, Sho... ORPHA:474
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Solitary median maxillary central incisor, Delayed eruption of teeth,... ORPHA:2712
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, Dislocated radial head, Highly arched eyebrow, Abnor... OMIM:122470
Osteogenesis Imperfecta, Type Viii
Osteopenia, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Thin ribs, Decreased ... OMIM:610915
Hyperekplexia 4
Kyphoscoliosis, High palate, Camptodactyly, Flexion contracture, Distal arthrogryposis OMIM:618011
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Joint hypermobility,... OMIM:224690
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ... ORPHA:2429
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, High palate, Micrognathia, Broad nasal tip, Prominent nasal bridge, Smooth philtrum, ... OMIM:613544
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec... OMIM:186500
Intellectual Developmental Disorder, X-Linked 91
Short nose, High palate, Macrodontia OMIM:300577
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Respiratory failure, Abnorm... ORPHA:70587
Diastrophic Dysplasia
Kyphoscoliosis, Scoliosis, Hip contracture, Cleft palate, Costal cartilage calcification, Cervica... OMIM:222600
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Broad nasal tip, Neonatal death... OMIM:615524
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Horseshoe kidney, Pectus excavatum, Postaxial polyd... OMIM:311900
Congenital Disorder Of Glycosylation, Type Iu
Short nose, High palate, Congenital contracture, Death in infancy, Micrognathia, Thin upper lip v... OMIM:615042
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Acute Interstitial Pneumonia
Ground-glass opacification, Atelectasis, Pleural effusion, Parenchymal consolidation, Bronchiecta... ORPHA:79126
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora... ORPHA:66637
Winchester Syndrome
Carpal osteolysis, Hirsutism, Kyphosis, Generalized osteoporosis, Osteolysis involving tarsal bones OMIM:277950
Facial Paresis, Hereditary Congenital, 3
Short nose, Short philtrum, Anteverted nares, High palate, Micrognathia, Downturned corners of mo... OMIM:614744
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Long nose, Short nose, Short philtrum, Delayed eruption of teeth, Low hanging columella, Antevert... OMIM:615866
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Premature loss of teeth, Osteoporosis of vertebrae, Hypopl... OMIM:156510
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Abnormal vertebral morphology, Hamstring contractures, Elbow ankylosis, Short neck ORPHA:96183
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Scoliosis, Kyphosis, Short neck, Micrognathia, Respiratory insufficiency due to mus... OMIM:611890
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Retrognathia, Micrognathia, Cleft palate OMIM:249710
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Thin ribs, Pleural effusion, Acute respiratory distress syndrome OMIM:617397
Scarf Syndrome
Lambdoidal craniosynostosis, Barrel-shaped chest, Pectus carinatum, Hypoplastic nipples, Low post... OMIM:312830
Perlman Syndrome
Retrognathia, High, narrow palate, Short nose, Broad alveolar ridges, Anteverted nares, Micrognat... ORPHA:2849
Chung-Jansen Syndrome
Short nose, Thin vermilion border, Short philtrum, Anteverted nares, High palate, Micrognathia, L... OMIM:617991
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Parc Syndrome
Cleft palate, Microretrognathia OMIM:600331
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Abnormal bone ossification, Increased bone mineral density, Wide anterior fontanel, A... ORPHA:163649
Fetal Akinesia Deformation Sequence 2
High palate, Micrognathia, Cleft palate, Tented upper lip vermilion, Flexion contracture, Wide na... OMIM:618388
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Death in infancy, Sparse hair, Pathologic fracture, Scoliosis, Elbow ... OMIM:601559
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Hypoplasia of the primary teeth, Thin vermilion border, Delayed eruption of teeth, Den... OMIM:257850
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Death in infancy, Micrognathia, Cleft palate, Malar flattening, Bulbous nose, Wide ... ORPHA:93946
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Epiphyseal stippling, Calcific stippling of infantile cartilaginous skeleton, Cle... OMIM:215100
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Kyphomelic Dysplasia
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Limitat... ORPHA:1801
Pycnodysostosis
Convex nasal ridge, Joint hypermobility, Generalized osteosclerosis, Obtuse angle of mandible, In... ORPHA:763
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Shoulder flexion contracture, Elbow flexion contracture, High palate, Camptodacty... OMIM:277720
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Supernumerary tooth, Dental malocclusion, Trach... OMIM:234100
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose, Osteopenia OMIM:125700
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Anteverted nares, Mandibular prognathia, Open bite, High palate, Narrow mouth, Campto... ORPHA:1327
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Abnorm... ORPHA:1452
Frontonasal Dysplasia 1
Short columella, Joint contracture of the hand, Bifid nasal tip, Median cleft palate, Hypoplastic... OMIM:136760
Peho-Like Syndrome
Retrognathia, Short nose, Open mouth OMIM:617507
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Anteverted nares, Premature osteoarthritis, Pierre-Robin sequence, Cleft palate, Malar flattening... OMIM:184840
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck, Recurre... OMIM:608681
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Short ribs, Femoral... OMIM:620076
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Highly arched eyebrow, Prominent fingertip pads, Pectus exca... OMIM:602535
Dysspondyloenchondromatosis
Kyphoscoliosis, Scoliosis, Vertebral segmentation defect, Anisospondyly, Osteoarthritis, Platyspo... ORPHA:85198
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Delayed eruption of teeth, Recurrent fractures, Abnormality of the dentition, Gingivi... ORPHA:2314
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Wrist flexion contracture, Increased den... OMIM:305620
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ulna, Narrow che... OMIM:200980
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
48,Xxyy Syndrome
Thick lower lip vermilion, Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:10
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Anteverted nares, High palate, Glossoptosis, Camptodactyly, Micrognathia, Pierre-Robi... OMIM:613604
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Respiratory insufficiency due to muscle weakness, Miscarriage, Neonatal asphyxia ORPHA:169189
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri... ORPHA:2114
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Abnormal epiphyseal ossifi... ORPHA:93284
Nemaline Myopathy 9
Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex congenita OMIM:615731
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Retrognathia, Clinodactyly of the 5th toe, Medial flaring of the eyebrow, Clinodactyly of the 5th... OMIM:620113
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Distal Duplication 18Q
Short nose, Anteverted nares, High palate, Choanal atresia, Abnormal dental morphology, Carious t... ORPHA:1716
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Acrodysostosis
Short nose, Delayed eruption of teeth, Epiphyseal stippling, Anteverted nares, Mandibular prognat... ORPHA:950
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Smooth philtrum, Long philtrum... OMIM:157980
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Missing ribs, Abnormal rib morphology, Join... ORPHA:2759
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Abnormal oral cavity morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge ORPHA:1355
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Ulbright-Hodes Syndrome
Pneumothorax, Hypoplasia of the radius, Fibular aplasia, Respiratory distress, Polycystic kidney ... ORPHA:3404
Brachydactyly, Type B1
Joint contracture of the hand, Wide anterior fontanel, Camptodactyly, Delayed eruption of permane... OMIM:113000
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Micromelia... ORPHA:93298
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Momo Syndrome
Abnormal bone ossification, Delayed eruption of teeth, Femoral bowing, Short sternum, Cutis marmo... ORPHA:2563
Mosaic Trisomy 14
Anteverted nares, Ectopic anus, High palate, Camptodactyly of finger, Micrognathia, Cleft palate,... ORPHA:1703
Coffin-Lowry Syndrome
Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Wide n... ORPHA:192
Hypophosphatasia
Emphysema, Narrow chest, Respiratory insufficiency, Abnormal rib morphology, Craniosynostosis, Re... ORPHA:436
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge, Malar flatteni... ORPHA:2412
Intellectual Developmental Disorder, X-Linked 21
Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Joint... OMIM:300143
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Thick lower lip vermilion, Widely spaced teeth, Delayed ... OMIM:619797
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Abnormal lumbar spin... ORPHA:2357
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Arthritis, Hypoplasia of the odontoid process, Irregular vertebral endplates, Pla... OMIM:184100
Familial Nasal Acilia
Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract inf... 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, Death in childhood, Acrocyanosis, Alopecia totalis, Tapered finger OMIM:302000
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic n... OMIM:256050
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Gingival overgrowth,... OMIM:614753
Arthrogryposis, Distal, Type 1C
Retrognathia, Thin vermilion border, Shoulder flexion contracture, Elbow flexion contracture, Hig... OMIM:619110
Premature Aging Syndrome, Penttinen Type
Retrognathia, Delayed eruption of teeth, Scoliosis, Thin ribs, Osteolytic defects of the distal p... OMIM:601812
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Scoliosis, Pectus carinatum, Pectus excavatum, Kyphosis, Decreased calvarial... OMIM:259440
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Recurrent uppe... OMIM:263000
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Short long bone, Flared elbow metaphyses, Micromelia, Microgn... ORPHA:1423
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Treacher Collins Syndrome 4
Micrognathia, Cleft palate, Choanal stenosis, Malar flattening OMIM:618939
Osteoglosphonic Dysplasia
Abnormal bone ossification, Anteverted nares, Choanal atresia, Tooth agenesis, Multiple unerupted... ORPHA:2645
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth OMIM:614450
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Short nose, Anteverted nares, High palate, Recurrent upper respiratory tract infect... OMIM:614069
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Lumbar hemivertebrae, Thin ribs, Hirsutism, Pectus excava... ORPHA:2463
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Short nose, Capitate-hamate fusion, Narrow mouth, Coronal craniosynostos... OMIM:614078
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Ankle flexion contracture, High, narrow palate, Foot joint contracture, Shoulder ... ORPHA:536516
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Lateral clavicle hook, C1-C2 vertebral abnormality, Pectus carinatum, Scoliosis, Thin... OMIM:182212
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Camptodactyly, Hypoplasia of the maxilla, Cleft palate, Microretrognathia OMIM:246560
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Scoliosis, High palate, Decreased hip abduction, Camptodactyly of toe, Camptodact... OMIM:114300
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Oligodontia, Abnormality of t... ORPHA:2315
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Calvarial hyperostosis OMIM:112350
Pallister-Hall-Like Syndrome
Short nose, Death in infancy, Micrognathia, Cleft palate, Depressed nasal bridge, Microglossia, M... OMIM:241800
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, High palate OMIM:300676
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Greenberg Dysplasia
Retrognathia, Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multip... OMIM:215140
Vitamin D-Dependent Rickets, Type 2A
Rickets, Delayed eruption of teeth, Delayed epiphyseal ossification, Recurrent fractures, Enamel ... OMIM:277440
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Trichorhinophalangeal Syndrome, Type I
Narrow palate, Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Delayed eruption ... OMIM:190350
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Delayed pubic bone ossification, Wide anterior fontanel, Delayed... OMIM:620099
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Increased density of long bones... OMIM:269150
Achondrogenesis
Short nose, Anteverted nares, Abnormality of bone mineral density, Abnormal enchondral ossificati... ORPHA:932
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Craniosynostosis, Herrmann-Opitz Type
Short nose, Craniosynostosis, Micrognathia, Cleft palate, Malar flattening, Convex nasal ridge ORPHA:2145
Proteus Syndrome
Kyphoscoliosis, Calvarial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Facial hy... OMIM:176920
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Acromesomelia, Narrow chest, Upper limb undergro... ORPHA:168549
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Long philtrum, Short nose, Abnormal palate morphology, Microretrognathia ORPHA:1389
Sulfite Oxidase Deficiency, Isolated
Death in infancy, Delayed eruption of teeth OMIM:272300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Clubbing, Death in... OMIM:610921
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Hirsutism, Flexion contracture OMIM:618006
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Bell-shaped thorax, Hammertoe, Tracheomalacia,... OMIM:608022
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Micromelia, Pulmonary ... OMIM:617895
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Limitation of joint mob... 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, Kyphoscoliosis, Osteopenia ORPHA:300179
Smith-Magenis Syndrome
Short nose, Short philtrum, Anteverted nares, Mandibular prognathia, Joint stiffness, Cleft upper... ORPHA:819
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Scoliosis, Hyperlordosis, High palate, Hip contracture, Cleft palate, Coronal cle... OMIM:618363
Achondrogenesis Type 1A
Narrow chest, Short thorax, Recurrent fractures, Short foot, Abnormal enchondral ossification, Mi... ORPHA:93299
Short Stature, Brussels Type
Narrow chest, Delayed epiphyseal ossification, Calcification of cartilage, Microretrognathia, Hor... ORPHA:2867
Recon Progeroid Syndrome
Thin vermilion border, Dental crowding, Narrow nasal ridge, Anteverted nares, Prominent nasal bri... OMIM:620370
C1Q Deficiency 2
Bronchiectasis, Arthritis, Atelectasis, Recurrent lower respiratory tract infections OMIM:620321
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Retrognathia, Abnormal lung lobation, Abnormal hip bone morpholog... ORPHA:2631
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max... ORPHA:776
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Prominent frontal sinuses, Dental crowding, Oligodontia, High palate, Pers... OMIM:170390
Diastrophic Dysplasia
Abnormal clavicle morphology, Short finger, Abnormal form of the vertebral bodies, Respiratory in... ORPHA:628
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Tracheobronchomalacia, Pectus carinatum, Thoracic hy... OMIM:114290
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Micrognathia, Broad philtrum, Long philtrum, Unilambdoid synostosis... OMIM:618577
49,Xxxxy Syndrome
Wide nose, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, O... ORPHA:96264
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Short sternum, Stage 5 chronic k... ORPHA:2752
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate, Choanal atresia ORPHA:1226
Short-Rib Thoracic Dysplasia 12
Short finger, Atelectasis, Narrow chest, Respiratory insufficiency, Short thorax, Short ribs, Hyp... OMIM:269860
Aase-Smith Syndrome
Joint stiffness, Camptodactyly of finger, Cleft palate, Trismus, Multiple joint contractures ORPHA:916
Recurrent Respiratory Papillomatosis
Atelectasis, Tracheomalacia, Respiratory insufficiency, Abnormal lung morphology, Recurrent pneum... ORPHA:60032
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Short long bone, Bowing of the long bones, Camptodactyly, Death... OMIM:619751
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Ohdo Syndrome
Short nose, Thin vermilion border, Widely spaced teeth, Anteverted nares, Narrow mouth, Hypoplasi... OMIM:249620
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia, White hair, Synostosis of carpal bones, Joint stiffness, Camptodacty... ORPHA:896
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Choanal stenosis, Malar flatte... OMIM:241310
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Bifid nasal tip, Bifid uvula, Broad philtrum, Abnormality of the... OMIM:211380
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair OMIM:619692
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Thin upper lip vermilion ORPHA:46
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal form of the vertebral bodies, Pectus carinatum, Decreased ... ORPHA:666
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Metaphyseal striations, Hypoplasia of the maxilla, Sparse facial hair, S... OMIM:608154
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Retrognathia, Ankle flexion contracture, Stillbirth, Elbow flexion contracture, Scapular winging,... OMIM:617468
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Joint contracture, Death in childhood OMIM:616081
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car... OMIM:259600
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atelectasis, Parenchymal consolidation, Elevated bronchoalveolar lava... OMIM:610978
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Joint stiffness, Camptodactyly of finger, Micrognathia, Cleft palate... ORPHA:1388
Periventricular Nodular Heterotopia 7
Short nose, Dental crowding, Anteverted nares, Narrow mouth, Micrognathia, Cleft palate, Pierre-R... OMIM:617201
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Mandibular prognathia, Dental crowding, High palate, Microdon... OMIM:269300
Verheij Syndrome
Retrognathia, Short nose, Anteverted nares, Branchial cyst, Cleft palate, Broad nasal tip, Verteb... OMIM:615583
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Short sternum, Postaxial foot ... OMIM:258850
Ck Syndrome
Joint hypermobility, High palate, Kyphoscoliosis, Lumbar hyperlordosis ORPHA:251383
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Narrow chest, Scoliosis, Anterior rib cupping, Recurrent pneumonia, Thoracic hypoplas... OMIM:602271
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Marbach-Rustad Progeroid Syndrome
Femur fracture, Reduced bone mineral density, Eruption failure, Narrow mouth, Micrognathia, Smoot... OMIM:619322
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... OMIM:620107
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Scoliosis, Elbow flexion contracture, Kyphosis, Short neck, Micrognathia, Wrist ... ORPHA:75840
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Non-Distal Duplication 13Q
Short nose, Thin vermilion border, High palate, Everted lower lip vermilion, Abnormality of the d... ORPHA:1702
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening OMIM:613857
Clark-Baraitser Syndrome
Short nose, Short philtrum, Low hanging columella, Anteverted nares, Exaggerated cupid's bow, Hig... OMIM:617752
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Osteoporosis, Subcutaneous ossification, Enamel hypoplasia, Depressed ... OMIM:103580
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... ORPHA:254361
Auriculocondylar Syndrome 4
Narrow mouth, Micrognathia, Cleft palate, Glossoptosis OMIM:620457
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Short nose, Slender nose, Micrognathia, Joint contracture, Wide mouth, Smooth philtrum, Thin uppe... OMIM:615419
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Mandibular prognathia, Ectopic anus... ORPHA:87
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Wide nasal base, Delayed eruption of te... ORPHA:2980
Pfeiffer Syndrome
Short nose, Dental crowding, Mandibular prognathia, High palate, Choanal atresia, Hypoplasia of t... OMIM:101600
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Arthrogryposis multiplex congenita OMIM:616570
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Osteoporosis, Concave nasal ridge, Delayed eruption of teeth ORPHA:73272
Hypotrichosis 3
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Abnormal sweat gland mor... OMIM:613981
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Short long... ORPHA:93296
20P12.3 Microdeletion Syndrome
Narrow mouth, Hypoplasia of the maxilla, Malar flattening, Long philtrum, Wide nasal bridge, Depr... ORPHA:261295
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Scoliosis, Pectus excavatum, Camptodactyly of finger, Respiratory failure OMIM:614399
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal bridge, High palate ORPHA:85279
48,Xxxy Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, Open bite, D... ORPHA:96263
Craniodigital-Intellectual Disability Syndrome
Short nose, Micrognathia, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Coffin-Lowry Syndrome
Coarse hair, Bifid sternum, Highly arched eyebrow, Hyperextensibility of the finger joints, Mandi... OMIM:303600
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Low hanging columella, Gin... OMIM:619148
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Widely-spaced incisors, Smooth philtrum, Bulbous nose, Thin upper lip ... OMIM:618737
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai... ORPHA:1433
Van Den Ende-Gupta Syndrome
Lateral clavicle hook, Sacral dimple, Camptodactyly of 2nd-5th fingers, Glenoid fossa hypoplasia,... OMIM:600920
Gapo Syndrome
Abnormal palate morphology, Delayed eruption of teeth, Anteverted nares, Mandibular prognathia, T... ORPHA:2067
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Patellar hypoplasia, Ureteral stenosis, Tachypnea, Hypoxemia, Micrognathi... ORPHA:2257
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Enamel hypoplasi... ORPHA:94089
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair OMIM:618535
Aredyld Syndrome
Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu... ORPHA:1133
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Osteopenia, Vertebral compression fracture, Vertebral wedging, Scoliosis, Biconca... OMIM:610968
Tracheobronchopathia Osteochondroplastica
Atelectasis, Respiratory insufficiency, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent res... ORPHA:3348
Edinburgh Malformation Syndrome
Thin vermilion border, Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Joint stiffne... ORPHA:1895
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... ORPHA:1071
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Osteoporosis, Depressed nasal bridge, Delayed eruption of teeth OMIM:612462
Robinow Syndrome, Autosomal Recessive 2
Short nose, Cleft soft palate, Triangular mouth, Anteverted nares, Gingival overgrowth, Abnormali... OMIM:618529
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Repeated pneumothoraces, Pectus carinatum, Pectus excavatum, Dentinogenesis imper... ORPHA:536467
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Duodenal stenosis ORPHA:2547
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Limitation of joint mobility, Abnormality of the dentition, Depresse... ORPHA:178303
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Joint contracture OMIM:617977
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Increased bone mineral density, Abnormal de... ORPHA:1782
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Death in infancy, Micrognathia, Natal tooth, Sagittal craniosynostosis, Depre... OMIM:616901
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Teebi Hypertelorism Syndrome 1
Short nose, Dental crowding, Anteverted nares, Coronal craniosynostosis, Micrognathia, Natal toot... OMIM:145420
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, F... OMIM:616531
Donnai-Barrow Syndrome
Short sternum, Proteinuria, Non-acidotic proximal tubulopathy, Malar flattening OMIM:222448
Stickler Syndrome, Type Ii
High, narrow palate, Anteverted nares, Micrognathia, Bifid uvula, Pierre-Robin sequence, Cleft pa... OMIM:604841
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Butterfly vertebrae, Delayed pubic bone ossification, Scoliosis, Thoracic kyphosc... OMIM:613330
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Fetal Alcohol Syndrome
Short nose, Non-midline cleft of the upper lip, Anteverted nares, Microdontia, Joint stiffness, M... ORPHA:1915
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Ankle flexion contracture, Wrist flexion contracture OMIM:616668
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Bulbous nose, Short philtrum ORPHA:93945
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Cleft palate, Malar flattening OMIM:183700
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno... ORPHA:1426
Brachyolmia Type 1, Hobaek Type
Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoli... OMIM:271530
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Short sternum, Micrognathia, Malar flatten... OMIM:257300
Hypomandibular Faciocranial Dysostosis
Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Death in infancy, Bifid ... ORPHA:1790
Robinow Syndrome, Autosomal Dominant 2
Short nose, Calvarial osteosclerosis, Cleft soft palate, Triangular mouth, Dental crowding, Oligo... OMIM:616331
Steatocystoma Multiplex
Natal tooth OMIM:184500
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ... ORPHA:2484
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome