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Gene: Ahdc1 MGI:2444218

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Gene Summary

Name:
AT hook, DNA binding motif, containing 1
Synonyms:
D030015G18Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye posterior chamber depth Ahdc1em1Xgs HET   Early adult 7.66×10-06
decreased bone mineral content Ahdc1em1Xgs HET Early adult 8.05×10-05
decreased bone mineral density Ahdc1em1Xgs HET Early adult 1.01×10-08
decreased lean body mass Ahdc1em1Xgs HET Early adult 1.23×10-07
abnormal retina morphology Ahdc1em1Xgs HET Early adult 5.51×10-08
increased total body fat amount Ahdc1em1Xgs HET Early adult 3.72×10-05

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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.

Eye Morphology

VIP of left fundus

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Human diseases caused by Ahdc1 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 Ahdc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Depressed nasal bridge, Tracheomalacia, Downslanted palpebral fissures, Upslanted palpebral fissu... ORPHA:412069
Xia-Gibbs Syndrome
Depressed nasal bridge, Ptosis, Upslanted palpebral fissure, Downslanted palpebral fissures OMIM:615829

The table below shows human diseases predicted to be associated to Ahdc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Trigonocephaly 1
Wide nasal bridge, Trigonocephaly, Upslanted palpebral fissure, Epicanthus, Omphalocele, Metopic ... OMIM:190440
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Trigonocephaly, Omphalocele, Synophrys ORPHA:3366
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Epicanthus, Omphalocele, Short nose ORPHA:1906
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Wide nasal bridge, Small anterior fontanelle, Trigonocephaly, Inguin... OMIM:314320
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Anophthalmia, Microphthalmia ORPHA:85275
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Copper beaten skull, Downslanted palpe... OMIM:619451
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Multiple suture craniosynostosis, Small anterior fontanelle, Trigonocephaly, I... ORPHA:3369
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Wide nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Downslanted palpebral fissures, D... ORPHA:1516
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Congenital diaphragmatic hernia, Anophthalmia, Neonatal death... OMIM:615524
Miller-Dieker Syndrome
Epicanthus, Anteverted nares, Omphalocele, Short nose ORPHA:531
Hypothyroidism, Congenital, Nongoitrous, 4
Depressed nasal bridge, Umbilical hernia, Dry skin, Omphalocele, Wide anterior fontanel OMIM:275100
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Abnormal calvaria morphology, Joint contracture of the hand, Umbilical hernia,... OMIM:175700
Craniosynostosis 3
Bicoronal synostosis, Ptosis, Sagittal craniosynostosis, Right unicoronal synostosis, Left unicor... OMIM:615314
Potocki-Shaffer Syndrome
Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Downslanted palpebral fissures, ... OMIM:601224
Craniosynostosis, Philadelphia Type
Long palpebral fissure, Craniosynostosis ORPHA:1527
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Large fontanelles, Decreased skull ossification, Omphalocele, Microphthalmia, ... ORPHA:93267
Non-Distal Duplication 10Q
Depressed nasal bridge, Downslanted palpebral fissures, Joint hypermobility, Brachycephaly, Aplas... ORPHA:1695
Hartsfield Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Intrauterine growth retardation, Telecant... ORPHA:2117
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Dry skin, Convex nasal ridge OMIM:218650
Aurocephalosyndactyly
Craniosynostosis, Short columella OMIM:109050
Distal Duplication 15Q
Camptodactyly of finger, Downslanted palpebral fissures, Joint stiffness, Intrauterine growth ret... ORPHA:1707
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Bulbous nose, Anteverted nares, Prominent nasal bridge, Long eyelashes, Anophtha... ORPHA:411986
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Depressed nasal bridge, Highly arched eyebrow, Downs... OMIM:145420
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Short columella, Large fontanelles, T... ORPHA:171839
Summitt Syndrome
Depressed nasal ridge, Plagiocephaly, Camptodactyly of finger, Genu valgum, Wide nose, Epicanthus... ORPHA:3210
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Epicanthus, Prominent nasal tip, Ptosis, S... ORPHA:502430
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Sparse eyelashes, Blepharophimosis, Microphthalmia, Depressed nasal ri... OMIM:613451
Rhiny
Anteverted nares, Inguinal hernia, Short nose OMIM:180360
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cleft ala nasi, Eyelid coloboma, Anophthalmia, Orbital cyst, Micropht... OMIM:164180
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Umbilical hernia, Telecanthus, Congenital diaphragmatic hernia, Craniosynostos... ORPHA:380
Donnai-Barrow Syndrome
Depressed nasal bridge, Umbilical hernia, Downslanted palpebral fissures, Congenital diaphragmati... ORPHA:2143
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Craniosynostosis 1
Oxycephaly, Scaphocephaly, Prominent occiput, Turricephaly, Sagittal craniosynostosis, Biparietal... OMIM:123100
Manitoba Oculotrichoanal Syndrome
Bifid nasal tip, Nasolacrimal duct obstruction, Broad nasal tip, Cryptophthalmos, Anophthalmia, E... OMIM:248450
17Q21.31 Microduplication Syndrome
Anteverted nares, Thick eyebrow, Epicanthus, Short nose, Synophrys ORPHA:217340
Lowry-Maclean Syndrome
Craniosynostosis, Intrauterine growth retardation, Convex nasal ridge OMIM:600252
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Depressed nasal bridge, Underdeveloped nasal alae, Intrauterine growth ... ORPHA:228390
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis, Almond-shaped palpebral fissure OMIM:601379
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Dry skin, Congenital hip dislocation, Omphalocele OMIM:614450
Ring Chromosome 8 Syndrome
Epicanthus, Anteverted nares, Frontal bossing, Short nose ORPHA:1450
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Anencephaly 2
Bifid nose, Short palpebral fissure, Anophthalmia OMIM:619452
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Sparse eyebrow, Highly arched eyebrow, Limitation of jo... ORPHA:178303
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dolichocephaly, Frontal bossing, Orbital craniosynostosis ORPHA:1538
Omphalocele
Omphalocele ORPHA:660
Adenylosuccinate Lyase Deficiency
Anteverted nares, Prominent metopic ridge, Brachycephaly, Short nose, Flat occiput ORPHA:46
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Elbow dislocation, Omphalocele ORPHA:85174
Frontoocular Syndrome
Coronal craniosynostosis, Short palpebral fissure, Trigonocephaly, Prominent nasal bridge, Upslan... OMIM:605321
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Cloverleaf skull OMIM:148800
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly, Increased bone mineral density ORPHA:178377
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Telecanthus, Congenital diaphragmatic hernia, Decreased skull ossifica... OMIM:263210
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Delayed cranial suture closure, B... OMIM:616602
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Epicanthus, Anteverted nares, Short nose ORPHA:2015
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Capitate-hamate fusion, Short palpebral fissure, Camptod... OMIM:206920
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Optic nerve hypoplasia, Downslanted palpebral fissures, Bicoronal sy... OMIM:618736
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Plagiocephaly, Anteverted nares, Long eyelashes, Unilambdoid synostosis, Brach... OMIM:618577
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Robinow-Sorauf Syndrome
Plagiocephaly, Downslanted palpebral fissures, Bilateral ptosis, Narrow nose, Shallow orbits, Cra... OMIM:180750
Fg Syndrome 5
Depressed nasal bridge, Trigonocephaly, Anteverted nares, Upslanted palpebral fissure, Epicanthus... OMIM:300581
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Camptodacty... ORPHA:1529
Cerebrooculonasal Syndrome
Sparse eyebrow, Anophthalmia, Upslanted palpebral fissure, Sparse eyelashes, Epicanthus, Brachyce... ORPHA:66625
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Downslanted palpebral fissures, Inguinal hernia, Frontal bossing, Sho... ORPHA:217385
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Depressed nasal bridge, Sparse eyebrow, Downslanted palpebral fissures, Trigonocephaly, Scaphocep... OMIM:616901
Tatton-Brown-Rahman Syndrome
Horizontal eyebrow, Talipes valgus, Umbilical hernia, Anteverted nares, Short columella, Thick ey... OMIM:615879
Craniofrontonasal Dysplasia
Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Camptodactyly of finger, Downslanted pal... ORPHA:1520
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Epicanthus, Short nose OMIM:300577
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Blepharophimos... ORPHA:261120
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Depressed nasal bridge, Broad nasal tip, Telecanthus, Upslanted palpebral fissure, Epicanthus, Om... OMIM:601927
Cranioectodermal Dysplasia
Frontal bossing, Abnormal dental enamel morphology, Anteverted nares, Prominent occiput, Joint hy... ORPHA:1515
Cebalid Syndrome
Depressed nasal ridge, Depressed nasal bridge, Plagiocephaly, Platystencephaly, Highly arched eye... OMIM:618774
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Short palpebral fissure, Abnormally large globe, Downslanted palpebral fissure... OMIM:611936
Retinal Dystrophy And Obesity
Obesity, Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, ... OMIM:616188
Cardiocranial Syndrome, Pfeiffer Type
Wide nasal bridge, Contracture of the proximal interphalangeal joint of the 2nd finger, Umbilical... ORPHA:2872
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Bulbous nose, Long... OMIM:618828
Parenti-Mignot Neurodevelopmental Syndrome
Prominent nasal bridge, Upslanted palpebral fissure, Epicanthus, Prominent nasal tip, Craniosynos... OMIM:619873
Frontofacionasal Dysplasia
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Aplasia/Hypoplas... ORPHA:1791
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism OMIM:185700
Exudative Vitreoretinopathy 4
Retinal exudate, Osteopenia, Exudative vitreoretinopathy, Posterior vitreous detachment, Traction... OMIM:601813
Chromosome 5P13 Duplication Syndrome
Wide nasal bridge, Short palpebral fissure, Bulbous nose, Upslanted palpebral fissure, Turricepha... OMIM:613174
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Umbilical hernia, Intrauterine growth retardation, Anteverted nares, Dias... ORPHA:254528
Chromosome 10Q26 Deletion Syndrome
Flared nostrils, Congenital hip dislocation, Wide nasal bridge, Downslanted palpebral fissures, P... OMIM:609625
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Oxycephaly, Epicanthus, Premature closure of fontanelles,... ORPHA:221054
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Delayed cranial suture closure, Intrauterine growth retardation, Anteverte... ORPHA:1832
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Elbow dislocation, Pterygium, Anteverted nares, Hernia, Craniosynostosis,... ORPHA:93329
C Syndrome
Wide nasal bridge, Fused sternal ossification centers, Trigonocephaly, Anteverted nares, Upslante... OMIM:211750
Craniosynostosis 7
Craniosynostosis OMIM:617439
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Decreased skull ossification ORPHA:2141
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Scarf Syndrome
Wide nasal base, Umbilical hernia, Downslanted palpebral fissures, Diastasis recti, Inguinal hern... ORPHA:3134
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Prominent nose, Anteverted nare... OMIM:618316
Craniotelencephalic Dysplasia
Craniosynostosis, Septo-optic dysplasia, Frontal bossing, Microphthalmia ORPHA:1528
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Brachycephaly, Craniosynostosis, Frontal ... ORPHA:314575
Burn-Mckeown Syndrome
Wide nasal bridge, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Sh... ORPHA:1200
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, Distal symphalangism of hands OMIM:185900
Macrocephaly-Developmental Delay Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Palpebral edema, Scaphocephaly, Narrow palpebr... ORPHA:397612
Anophthalmia Plus Syndrome
Choanal atresia, Anophthalmia, Eyelid coloboma, Abnormal nasal morphology, Blepharophimosis ORPHA:1104
Antley-Bixler Syndrome
Choanal atresia, Delayed cranial suture closure, Camptodactyly of finger, Downslanted palpebral f... ORPHA:83
Lowry-Maclean Syndrome
Osteopenia, Choanal atresia, Downslanted palpebral fissures, Small anterior fontanelle, Trigonoce... ORPHA:2409
Trisomy 1Q
Depressed nasal bridge, Camptodactyly of finger, Downslanted palpebral fissures, Anophthalmia, Co... ORPHA:261344
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Anteverted nares, Congenital diaphragmatic hernia, Omphalocele, Decreased skull ossification OMIM:601163
Microphthalmia, Syndromic 16
Ankyloblepharon, Anophthalmia, Microphthalmia OMIM:611038
Meckel Syndrome, Type 8
Depressed nasal ridge, Anophthalmia, Short nose, Microphthalmia OMIM:613885
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Broad nasal tip, Anteverted nares, Long eyelashes, Ventral hernia, Omphalocele... OMIM:618529
Kagami-Ogata Syndrome
Depressed nasal bridge, Short palpebral fissure, Anteverted nares, Diastasis recti, Inguinal hern... OMIM:608149
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Joint contracture of the hand, Shallow ace... OMIM:201000
Microphthalmia, Isolated 8
Short palpebral fissure, True anophthalmia, Anophthalmia, Entropion, Microphthalmia, Optic nerve ... OMIM:615113
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Highly arched eyebrow, Skull asymmetry, Do... OMIM:257920
Hypomandibular Faciocranial Dysostosis
Downslanted palpebral fissures, Trigonocephaly, Anteverted nares, Upslanted palpebral fissure, De... ORPHA:1790
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Narrow nasal bridge, Inguinal hernia, Short nose OMIM:618379
Craniosynostosis, Adelaide Type
Craniosynostosis, Carpal bone malsegmentation OMIM:600593
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Turricephaly, Brachycephaly, Convex nasal ridge, Craniosynostosi... ORPHA:2145
Gomez-Lopez-Hernandez Syndrome
Skull asymmetry, Downslanted palpebral fissures, Anteverted nares, Turricephaly, Wormian bones, B... OMIM:601853
Trisomy 13
Intrauterine growth retardation, Calvarial skull defect, Anophthalmia, Aplasia/Hypoplasia of the ... ORPHA:3378
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Long eyelashes, Death in adolescence, Ptosis, Craniosynostosis, Flexion contracture OMIM:619076
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Choanal atresia OMIM:612247
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Boomerang Dysplasia
Poorly ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal bone os... ORPHA:1263
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Synostosis of carpal bones, Accessory carpal bones, Downslanted palpebral fiss... OMIM:311300
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Wide nose OMIM:125700
Chromosome 9P Deletion Syndrome
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Highly arched eyebrow, Trigonocephaly... OMIM:158170
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Hypoplasia of the iris, Umbilical hernia, Downslanted pa... OMIM:222448
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Capitate-hamate fusion, Knee dislocation, Genu valgu... OMIM:614078
Hypophosphatasia, Childhood
Dolichocephaly, Frontal bossing, Craniosynostosis OMIM:241510
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Wide nasal bridge, Umbilical hernia, Downs... OMIM:312830
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Epicanthus, Brachycephaly,... OMIM:617752
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Wormian bones, Brachyc... OMIM:604757
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Short nose, Anteverted nares, Delayed patellar ossification, Anterior pla... ORPHA:163649
Craniotelencephalic Dysplasia
Craniosynostosis, Optic nerve hypoplasia, Microphthalmia OMIM:218670
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Osteopenia, Intrauterine growth retardation, Craniosynostosis, Short nose OMIM:614732
Acalvaria
Calvarial skull defect, Omphalocele ORPHA:945
Perlman Syndrome
Wide nasal bridge, Anteverted nares, Inguinal hernia, Epicanthus, Ptosis, Dolichocephaly, Femoral... ORPHA:2849
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Intraut... OMIM:613604
Developmental And Epileptic Encephalopathy 89
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Highly arched eyebrow, Downslanted pal... OMIM:619124
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Inguinal hernia, Upslanted palpebral f... OMIM:613544
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi... ORPHA:371428
Crouzon Syndrome
Choanal atresia, Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Ptosis, Convex na... ORPHA:207
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Long nasal bridge, Elbow contracture, Elbow flexion contracture, Carpal syno... OMIM:178110
Pierpont Syndrome
Broad nasal tip, Unilateral narrow palpebral fissure, Telecanthus, Brachycephaly, Blepharophimosi... OMIM:602342
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Downslanted palpebral fissures, Anteverted nares, Joint hypermobility, Epicanthus, Craniosynostos... OMIM:619056
Craniosynostosis 4
Lambdoidal craniosynostosis, Coronal craniosynostosis, Depressed nasal bridge, Bicoronal synostos... OMIM:600775
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Ptosis, Highly arched eyebrow, Short nose ORPHA:438178
Oculotrichoanal Syndrome
Bifid nasal tip, Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruct... ORPHA:2717
Coffin-Siris Syndrome 7
Depressed nasal bridge, Downslanted palpebral fissures, Thick nasal alae, Trigonocephaly, Antever... OMIM:618027
Prognathism, Mandibular
Craniosynostosis, Ectropion of lower eyelids OMIM:176700
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Sparse eyebrow, Downslanted palpebral fissures, Trigonocephaly, Scaphocep... ORPHA:459061
Bartsocas-Papas Syndrome 1
Dry skin, Absent eyelashes, Cicatricial lagophthalmos, Absent eyebrow, Blepharophimosis, Inferior... OMIM:263650
Cerebrooculonasal Syndrome
Sparse eyebrow, Proboscis, Anteverted nares, Prominent nasal bridge, Anophthalmia, Sparse eyelash... OMIM:605627
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Fibrochondrogenesis 1
Depressed nasal bridge, Joint contracture of the hand, Short nose, Anteverted nares, Omphalocele,... OMIM:228520
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Hypochondroplasia
Depressed nasal bridge, Limited elbow extension, Craniosynostosis, Frontal bossing, Genu varum OMIM:146000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Depressed nasal bridge, Aniridia, Anteverted nares, Telecanthus, Craniosynostosis, Frontal bossing ORPHA:1064
3Mc Syndrome
Highly arched eyebrow, Umbilical hernia, Downslanted palpebral fissures, Telecanthus, Diastasis r... ORPHA:293843
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
3Mc Syndrome 2
Wide nasal bridge, Highly arched eyebrow, Skull asymmetry, Downslanted palpebral fissures, Depres... OMIM:265050
Pfeiffer Syndrome
Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, Brachyturricephaly, Downslante... OMIM:101600
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Parietal foramina, Delayed... OMIM:603116
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Craniosynostosis, Intrauterine growth retardation, Epicanthus, Wide nose OMIM:620428
Carpenter Syndrome
Umbilical hernia, Oxycephaly, Genu valgum, Turricephaly, Craniosynostosis, Patent ductus arterios... ORPHA:65759
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Downslanted palpebral fissures, Atrophic scars, Telecanthus,... OMIM:615539
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Lacrimal duct aplasia, Umbilica... OMIM:618454
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Depressed nasal bridge, Intrauterine growth retardation, Knee flexion ... ORPHA:284417
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Absent eyelashes, Absent eyebrow, Convex nasal ridge, Short nose OMIM:200130
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Bilateral microphthalmos, Depressed nasal tip, Midli... OMIM:610828
Osteoglosphonic Dysplasia
Choanal atresia, Anteverted nares, Inguinal hernia, Abnormal bone ossification, Craniosynostosis ORPHA:2645
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Broad columella, Underdeveloped nasal alae, Downslanted palpebral fissures, Intrauterine growth r... ORPHA:166035
Microphthalmia, Syndromic 9
Wide nasal bridge, Bilateral microphthalmos, Intrauterine growth retardation, Inguinal hernia, Co... OMIM:601186
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility OMIM:616721
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Intrauterine growth retardation, Anteverted nar... OMIM:247200
Fetal Alcohol Syndrome
Joint stiffness, Intrauterine growth retardation, Anteverted nares, Congenital diaphragmatic hern... ORPHA:1915
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Sparse lateral eyebrow, Underdeveloped nasal alae, Telecanthus, Redundant skin... ORPHA:1252
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Dow... OMIM:616294
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Genu valgum, Congenital diaphragmatic hernia, Radioulnar synostosis, Abnormality of the abdominal... OMIM:245600
Achondrogenesis
Abnormal enchondral ossification, Umbilical hernia, Anteverted nares, Inguinal hernia, Frontal bo... ORPHA:932
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Camptodactyly of finger, Microphthalmia, Frontal bossing, Patent du... ORPHA:2547
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Aplasia/Hypoplasia of the nasal bone, Umbilical hernia, Brachycephaly, ... ORPHA:2095
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Anophthalmia, Midnasal stenosis, Microphthalmia, Abnormal nasopharynx m... OMIM:147250
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Intrauterine growth retardation, Humeroradial synostosis, Neonatal death... OMIM:251230
Non-Distal Duplication 13Q
Trigonocephaly, Thick eyebrow, Hernia, Short nose, Abnormal eyelash morphology, Aplasia/Hypoplasi... ORPHA:1702
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Downslanted palpebral fissures, Brachycephaly, Ptosis, C... OMIM:602849
Acromicric Dysplasia
Bulbous nose, Long eyelashes, Joint stiffness, Anteverted nares, Abnormal eyebrow morphology, Sho... ORPHA:969
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Scaphocephaly, Arthropathy, Craniosynostosis, Hip dislocation OMIM:618523
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose, Downslanted palpebral fissures OMIM:613670
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Plagiocephaly, Horiz... ORPHA:369891
3Q29 Microduplication Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Aniridia, Large fontanelles, Camptodactyly of ... ORPHA:251038
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Congenital hip dislocation, Depressed nasal ridge, Anteverted nares, Inguinal ... ORPHA:2412
Mosaic Trisomy 1
Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Elbow flexion contracture, Sm... ORPHA:1692
Craniodigital-Intellectual Disability Syndrome
Long eyelashes, Thick eyebrow, Narrow nasal bridge, Brachycephaly, Short nose ORPHA:1514
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Thick eyebrow, Upper eyelid coloboma, Ptosis, Short nose... OMIM:619736
Fg Syndrome Type 1
Choanal atresia, Plagiocephaly, Umbilical hernia, Facial wrinkling, Downslanted palpebral fissure... ORPHA:93932
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Prominent nasal bridge, Limited elbow extensio... ORPHA:401935
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, In... OMIM:614114
Chung-Jansen Syndrome
Anteverted nares, Thick eyebrow, Upslanted palpebral fissure, Joint hypermobility, Epicanthus, Sh... OMIM:617991
Cranioectodermal Dysplasia 4
Anteverted nares, Joint hypermobility, Epicanthus, Cutis laxa, Sagittal craniosynostosis, Frontal... OMIM:614378
Acrocephalopolydactylous Dysplasia
Oxycephaly, Upslanted palpebral fissure, Epicanthus, Omphalocele, Craniosynostosis, Short nose OMIM:200995
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Downslanted palpebral fissures, Intrauterine growth retardation, Ante... OMIM:219200
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Broad nasal tip, Prominent nasal bridge, Lacrimal duct stenosis, Epicanthus, Ptosi... ORPHA:457193
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Reduce... OMIM:112240
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Osteopenia, Joint contracture of the hand, Brachyturricephaly, Umbilical hernia,... OMIM:182212
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Highly arched eyebrow, Camptodactyly of finger, Intrauterine growth retar... ORPHA:1327
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Trigonocephaly, Anteverted nares, Epicanthus, Short nose OMIM:618506
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Downslanted palpebral fissures, Delayed cranial suture closure, Thin calvarium, Shallow orbits, F... ORPHA:1129
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Depressed nasal bridge, Skull asymmetry, Limited elbow extension, Carpal bone hypopla... OMIM:616723
Fetal Trimethadione Syndrome
Depressed nasal bridge, Intrauterine growth retardation, Epicanthus, Brachycephaly, Ptosis, Short... ORPHA:1913
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Abnormally ossified vertebrae, Upslanted palpebral fissure, Omph... ORPHA:3035
Triploidy
Intrauterine growth retardation, Decreased skull ossification, Abnormality of the fontanelles or ... ORPHA:3376
Aymé-Gripp Syndrome
Depressed nasal bridge, Plagiocephaly, Limitation of joint mobility, Delayed cranial suture closu... ORPHA:1272
Marshall-Smith Syndrome
Death in childhood, Patent ductus arteriosus, Short nose, Choanal atresia, Choanal stenosis, Omph... OMIM:602535
Holoprosencephaly
Congenital diaphragmatic hernia, Anophthalmia, Epicanthus, Blepharophimosis, Microphthalmia, Flat... ORPHA:2162
Fibrochondrogenesis
Depressed nasal bridge, Plagiocephaly, Camptodactyly of finger, Downslanted palpebral fissures, A... ORPHA:2021
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Intrauterine growth retardation, Death in infancy, Camptodactyly of finger ORPHA:1495
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Dolichocephaly, Prominent occiput, Omphalocele OMIM:617895
Baker-Gordon Syndrome
Epicanthus, Prominent nasal tip, Short nose, Joint hypermobility OMIM:618218
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Downslanted palpebral fissures, Bulbous nose, Telecanthus, Almond-shaped palpe... OMIM:620292
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Reduced bone mineral density, Short nose ORPHA:2370
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Long eyelashes, Telecanthus, Upslant... OMIM:616894
Trisomy 18
Choanal atresia, Camptodactyly of finger, Intrauterine growth retardation, Prominent occiput, Con... ORPHA:3380
Auriculocondylar Syndrome 2B
Telecanthus, Limbal dermoid, Omphalocele, Synophrys OMIM:620458
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Depressed nasal bridge, Umbilical hernia, Downslanted palpebral fissures, Anteve... ORPHA:1555
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... OMIM:123500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Unicoronal synostosis, Stillbirth, Prominent nose, Omphalocele, Microphthalmia, F... OMIM:616300
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Short palpebral fissure... OMIM:608156
Beare-Stevenson Cutis Gyrata Syndrome
Choanal atresia, Depressed nasal bridge, Downslanted palpebral fissures, Anteverted nares, Promin... OMIM:123790
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Striae distensae, Short columella, Abnormal nostri... ORPHA:1248
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Plagiocephaly, Broad columella, Delayed cranial suture closure, Narrow nasal b... OMIM:619383
Edinburgh Malformation Syndrome
Choanal atresia, Joint stiffness, Anteverted nares, Short nose, Frontal bossing, Aplasia/Hypoplas... ORPHA:1895
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone, Ankyloblepharon, Underdeveloped nasal alae, Midline defect of the... OMIM:229400
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Short palpebral fissure, Sparse eyebrow, Underdeveloped nasal alae, Dry skin, ... OMIM:613026
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Trigonocephaly, Anteve... ORPHA:363659
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Wide nasal bridge, Skin ulcer, Dry skin, Anteverted nares, Anophthalmia, Upslanted pa... ORPHA:2526
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Depressed nasal bridge, Intrauterine growth retardation, Epiphyseal stippling, A... ORPHA:1914
Acrocraniofacial Dysostosis
Choanal atresia, Downslanted palpebral fissures, Anteverted nares, Genu valgum, Prominent nasal b... ORPHA:949
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Erythema, Anteverted nares, Neonatal death, Camptodact... OMIM:610015
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Focal Dermal Hypoplasia
Erythema, Coarse metaphyseal trabecularization, Camptodactyly of finger, Umbilical hernia, Abnorm... ORPHA:2092
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Camptodactyly of finger, Dry... ORPHA:920
Baraitser-Winter Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Trigonocephaly, Anteverted nares, Epicanthus, Long palp... OMIM:243310
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Choanal atresia, Nasolacrimal duct obstruction, Probo... ORPHA:141099
Hamamy Syndrome
Wide nasal bridge, Osteopenia, Sparse eyebrow, Sparse lateral eyebrow, Neck pterygia, Anteverted ... OMIM:611174
Peho-Like Syndrome
Epicanthus, Short nose OMIM:617507
Pterygium Colli, Isolated
Epicanthus, Short nose OMIM:177990
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia, Scarring, Enamel hypoplasia, Conjunctivitis, Flexi... ORPHA:90322
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Marfanoid-Progeroid-Lipodystrophy Syndrome
Downslanted palpebral fissures, Generalized lipodystrophy, Intrauterine growth retardation, Scaph... OMIM:616914
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Short nose OMIM:155050
Myoectodermal Gonadal Dysgenesis Syndrome
Highly arched eyebrow, Sparse eyebrow, Underdeveloped nasal alae, Hypoplasia of the lacrimal punc... OMIM:618419
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Osteopenia, Wide nasal bridge, Skin ulcer, Osteomyelitis, Joint hypermobility, Skin v... ORPHA:2314
Distal Deletion 10Q
Wide nasal bridge, Downslanted palpebral fissures, Prominent nose, Prominent nasal bridge, Upslan... ORPHA:96148
Opitz Gbbb Syndrome
Wide nasal bridge, Tracheomalacia, Umbilical hernia, Downslanted palpebral fissures, Anteverted n... ORPHA:2745
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Narrow nasal bridge, Anteverted nares, Epicanthus, Brachycephaly... ORPHA:254346
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Death in infancy, Joint hypermobility, Frontal... ORPHA:166272
5Q14.3 Microdeletion Syndrome
Anteverted nares, Thick eyebrow, Upslanted palpebral fissure, Short nose, Optic nerve hypoplasia ORPHA:228384
Distal Duplication 5Q
Downslanted palpebral fissures, Prominent nasal bridge, Hernia, Epicanthus, Craniosynostosis, Sho... ORPHA:96097
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Umbilical hernia, Camptodactyly of finger, Aniridia, Inguinal hernia, Anophthalmia... ORPHA:1101
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly, Humeroradial synostosis OMIM:614416
Achondrogenesis Type 1A
Abnormal enchondral ossification, Umbilical hernia, Anteverted nares, Femoral hernia, Frontal bos... ORPHA:93299
Melnick-Needles Syndrome
Craniofacial hyperostosis, Delayed cranial suture closure, Abnormal cortical bone morphology, Joi... ORPHA:2484
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Depressed nasal bridge, Anteverted nares, Ankle clonus, ... OMIM:615398
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Long eyelashes, Wide nose, Inguinal h... OMIM:213980
Shprintzen-Goldberg Syndrome
Osteopenia, Elbow dislocation, Umbilical hernia, Camptodactyly of finger, Downslanted palpebral f... ORPHA:2462
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Short nose, Synophrys ORPHA:2429
Holoprosencephaly-Craniosynostosis Syndrome
Short palpebral fissure, Plagiocephaly, Upslanted palpebral fissure, Epicanthus, Brachycephaly, C... ORPHA:2163
9Q21.13 Microdeletion Syndrome
Long palpebral fissure, Craniosynostosis, Ptosis, Wide nasal ridge ORPHA:531151
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, H... OMIM:207410
Achondrogenesis Type 1B
Abnormal enchondral ossification, Umbilical hernia, Anteverted nares, Femoral hernia, Frontal bos... ORPHA:93298
Fibular Hemimelia
Hypoplastic acetabulae, Limitation of joint mobility, Limited knee flexion/extension, Joint stiff... ORPHA:93323
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Downslanted palpebral fissures, Intrauterine growth retardation, Telecanthus, Redundant neck skin... OMIM:301056
Marshall-Smith Syndrome
Choanal atresia, Anteverted nares, Increased susceptibility to fractures, Joint hypermobility, Cr... ORPHA:561
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Anteverted nares, Epicanthu... OMIM:614105
Tetrasomy 12P
Sparse eyebrow, Anteverted nares, Telecanthus, Upslanted palpebral fissure, Joint hypermobility, ... ORPHA:884
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Broad nasal tip, Downslanted palpebral fissures, Intrauterine growth ... ORPHA:357074
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Mild intrauterine growth retardation, Increased bone mineral density, D... OMIM:616943
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal a... OMIM:101200
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Death in childhoo... OMIM:618961
Meckel Syndrome, Type 2
Intrauterine growth retardation, Omphalocele, Microphthalmia OMIM:603194
Bainbridge-Ropers Syndrome
Large fontanelles, Epicanthus, Short nose, Broad nasal tip, Downslanted palpebral fissures, Trigo... OMIM:615485
16P13.11 Microduplication Syndrome
Craniosynostosis, Dolichocephaly, Joint hypermobility ORPHA:261243
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Plagiocephaly, Broad nasal tip, Upslanted palpebral fissure, Anterior plagioce... OMIM:614749
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptod... ORPHA:90652
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Congenital diaphragmatic hernia, Short nose, Microphthalmia OMIM:300887
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Intrauterine growth retardation, Epicanthus, Short nose OMIM:616910
Noonan Syndrome 3
Hypoplastic nasal bridge, Downslanted palpebral fissures, Scaphocephaly, Anteverted nares, Epican... OMIM:609942
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Highly arched eyebrow, Umbilical hernia, Downslanted palpebral fissures, Promi... ORPHA:1519
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Joint hypermobility OMIM:618906
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Carpal synostosis, Brachycephaly, Ptosis, Tarsal synostosis ORPHA:53271
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Anteverted nares, Large fontanelles, Dea... OMIM:613320
Fetal Hydantoin Syndrome
Depressed nasal ridge, Intrauterine growth retardation, Hernia, Epicanthus, Ptosis, Abnormality o... ORPHA:1912
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hip contracture, Hernia, Epicanthus, Flexion contracture of finger... OMIM:193700
Trisomy 12P
Wide nasal bridge, Thick eyebrow, Aplasia/Hypoplasia of the iris, Turricephaly, Epicanthus, Aplas... ORPHA:1699
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Choanal stenosis, Patent ductus arteriosus OMIM:241310
Au-Kline Syndrome
Bifid nasal tip, Plagiocephaly, Sparse lateral eyebrow, Underdeveloped nasal alae, Downslanted pa... OMIM:616580
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Epicanthus, Blepharophimosi... ORPHA:261144
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Highly arched eyebrow, Short palpebral fissure, Underdeveloped nasal alae, Camptodactyly of finge... ORPHA:2083
C Syndrome
Depressed nasal bridge, Limitation of joint mobility, Joint dislocation, Trigonocephaly, Antevert... ORPHA:1308
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Anteverted nares, Joint hypermobility,... OMIM:249620
Cranioectodermal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Plagiocephaly, Telecanthus, Inguinal h... OMIM:613610
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Epicanthus, Short nose, Unilateral ptosis, Lagophthalmos OMIM:614744
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Intrauterine growth retardation, Decreased skull ossification, Microphthal... OMIM:300863
Hypophosphatasia, Infantile
Unossified vertebral bodies, Increased susceptibility to fractures, Death in infancy, Decreased c... OMIM:241500
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Joint contracture of the hand, Plagiocephaly, Limitation of joint mobilit... ORPHA:363528
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Intrauterine growth retardation, Brachycephaly, Joint contracture, Slender nose, Short nose OMIM:615419
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Craniosynostosis, Arthrogryposis... OMIM:618265
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Anteverted nares, Joint hypermobility, Cubitus valgus, Epicanthus, Ptosis, Dolic... ORPHA:1185
Musculocontractural Ehlers-Danlos Syndrome
Downslanted palpebral fissures, Atrophic scars, Recurrent joint dislocation, Large fontanelles, I... ORPHA:2953
Jackson-Weiss Syndrome
Coronal craniosynostosis, Calcaneonavicular fusion, Craniosynostosis OMIM:123150
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Downslanted palpebral fissures, Pt... ORPHA:391372
Lethal Congenital Contracture Syndrome 10
Downslanted palpebral fissures, Stiff neck, Intrauterine growth retardation, Convex nasal ridge, ... OMIM:617022
Alg9-Cdg
Depressed nasal bridge, Underdeveloped nasal alae, Delayed cranial suture closure, Short nose, Te... ORPHA:79328
Frontometaphyseal Dysplasia 1
Wide nasal bridge, Ankle flexion contracture, Interphalangeal joint contracture of finger, Partia... OMIM:305620
Saethre-Chotzen Syndrome
Blepharospasm, Depressed nasal bridge, Plagiocephaly, Delayed cranial suture closure, Prominent n... ORPHA:794
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Choanal atresia, Depressed nasal bridge, Umbilical hernia, Intrauterine growth retard... OMIM:610199
Fontaine Progeroid Syndrome
Aplastic/hypoplastic lacrimal glands, Reduced subcutaneous adipose tissue, Neonatal death, Microp... OMIM:612289
Verheij Syndrome
Wide nasal bridge, Broad nasal tip, Intrauterine growth retardation, Anteverted nares, Joint hype... OMIM:615583
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, Highly arched eyebrow, Brachycephaly, Short nose, Synophrys OMIM:616854
Kagami-Ogata Syndrome
Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Diastasis recti, Inguinal... ORPHA:254519
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Dermal translucency, Highly arched eyebrow, Sparse lateral eyebrow, Underdeveloped nasal alae, Do... OMIM:617506
Mucolipidosis Ii Alpha/Beta
Limitation of joint mobility, Death in childhood, Carpal bone hypoplasia, Epicanthus, Flat acetab... OMIM:252500
Intellectual Developmental Disorder, Autosomal Dominant 57
Broad nasal tip, Telecanthus, Prominent nasal bridge, Upslanted palpebral fissure, Joint hypermob... OMIM:618050
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Short palpebral fissure, Tracheomalacia, Anteverted nares, Telecanthus, R... OMIM:217980
Dermotrichic Syndrome
Depressed nasal bridge, Frontal bossing, Blepharophimosis, Short nose ORPHA:99688
Ruvalcaba Syndrome
Synostosis of carpal bones, Downslanted palpebral fissures, Intrauterine growth retardation, Ingu... ORPHA:3121
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Osteopenia, Short nose, Intrauterine growth retardation, Anteverted nares, Tel... OMIM:616897
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Intrauterine growth retardation, Death in infancy, Microphthalmia, Frontal... ORPHA:163966
Osteopathia Striata With Cranial Sclerosis
Wide nasal bridge, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Sc... OMIM:300373
Osteoglophonic Dysplasia
Osteopenia, Choanal atresia, Depressed nasal bridge, Camptodactyly of finger, Nasal congestion, D... OMIM:166250
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Short palpebral fissure, Downslanted palpebral fissures,... ORPHA:284169
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Short nose ORPHA:2598
Pycnodysostosis
Coronal craniosynostosis, Persistent open anterior fontanelle, Delayed cranial suture closure, In... ORPHA:763
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Codas Syndrome
Congenital hip dislocation, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted... ORPHA:1458
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Limbal dermoid, Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
Intellectual Developmental Disorder, X-Linked 21
Synophrys, Upslanted palpebral fissure, Short nose, Joint hypermobility OMIM:300143
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Genu valgum, Epicanthus, Short nose, Wide nose ORPHA:2831
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Cryptophthalmos, Hypoplasia of eyelid, Redundant skin, Absent... OMIM:200110
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Abnormal dental enamel morphology, Dry sk... ORPHA:1812
Codas Syndrome
Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Genu valgum, Generalized jo... OMIM:600373
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Bulbous nose, Intrauterine growth retard... ORPHA:261211
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Underdeveloped nasal alae, Sparse or ... ORPHA:1234
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Umbilical hernia, Bulbous nose, Intrauterine growth retardation, Anteverted nares, Telecanthus, I... OMIM:618164
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Hyposmia, Inguinal hernia, Anophthalmia, Absent nares, Microphthalmia, Single naris ORPHA:2250
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Tracheomalacia, Intrauterine growth retardation, L... OMIM:608022
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Horizontal eyebrow, Bulbous nose, Epicanthus, Narrow palpebral fissure, Microp... OMIM:618571
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, Broad columella, Underdeveloped nasal alae, Downslanted palpebral fissures, Spars... OMIM:250410
Fraser Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Lacrimal duct aplasia, Bilateral microphthalmos, Under... OMIM:219000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Long eyelashes, Anophthalmia, Epicanthus, Recurrent patellar dislocation, Microp... OMIM:615877
Hypophosphatasia
Craniosynostosis, Large fontanelles, Recurrent fractures ORPHA:436
Hydrolethalus
Anophthalmia, Abnormality of the sense of smell, Microphthalmia ORPHA:2189
Craniofrontonasal Syndrome
Axillary pterygium, Coronal craniosynostosis, Wide nasal bridge, Bifid nasal tip, Umbilical herni... OMIM:304110
Tibial Aplasia-Ectrodactyly Syndrome
Popliteal pterygium, Limitation of joint mobility, Patellar aplasia, Omphalocele ORPHA:3329
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Plagiocephaly, Broad nasal tip, Diastasis recti, Midline nasal groove, Asymmetry ... ORPHA:1521
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Depressed nasal bridge, Genu valgum, Limited elbow extension, Carpal bone hypoplasia,... ORPHA:457395
Distal Triplication 15Q
Intrauterine growth retardation, Telecanthus, Hernia, Camptodactyly, Craniosynostosis, Flexion co... ORPHA:314588
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Prominent nasal bridge ORPHA:163971
Arterial Tortuosity Syndrome
Short palpebral fissure, Redundant skin, Inguinal hernia, Joint hypermobility, Hiatus hernia, Ble... ORPHA:3342
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Epicanthus, Aplasia/Hypoplasia of the eyebrow, Short nose, Abnormality of the e... ORPHA:2701
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Flexion contractur... OMIM:613870
Matthew-Wood Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia, Anophthalmia, Microphthalmia ORPHA:2470
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Synophrys DECIPHER:52
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Erythema, Carpal synostosis, Large fontanelles, Patellar aplasia, Li... OMIM:218600
Smith-Kingsmore Syndrome
Depressed nasal bridge, Umbilical hernia, Downslanted palpebral fissures, Diastasis recti, Fronta... OMIM:616638
Mucolipidosis Type Ii
Depressed nasal bridge, Limitation of joint mobility, Umbilical hernia, Limited wrist movement, D... ORPHA:576
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Intrauterine growth retardation, Promi... ORPHA:439822
Trichothiodystrophy
Osteopenia, Joint dislocation, Bilateral microphthalmos, Umbilical hernia, Ectropion, Dry skin, I... ORPHA:33364
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Short palpebral fissure, Highly arched eyebrow, Underdeveloped nasal alae... OMIM:615866
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Short nose OMIM:613443
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Short nose OMIM:300558
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Depressed nasal bridge, Highly arched eyebrow, Camptodactyly of finger, Downslanted palpebral fis... OMIM:619951
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Upslanted palpebral fissure, Inguinal hernia, Metopic synostosis, Short nose OMIM:613735
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Underdeveloped nasal alae, Bulbous nose, Intrauterine growth retardation... ORPHA:364577
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nasal septum, Short nose OMIM:302950
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Radioulnar synostosis, Radial head subluxation, Pate... ORPHA:536471
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Depressed nasal bridge, Joint dislocation, Rickets, Abnormality of subcutaneous fat t... ORPHA:1901
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Slc35A2-Cdg
Osteopenia, Camptodactyly of finger, Intrauterine growth retardation, Joint hypermobility, Limb j... ORPHA:356961
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Thick ey... OMIM:617061
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Anteverted nares, Epicanthus, Ptosis, Shor... OMIM:618619
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epicanthus, Blepharophimosis, Wide nose, Short palpebral fissure, Plagiocephaly, Diastasis recti,... ORPHA:96334
Caudal Duplication
Omphalocele ORPHA:1756
Trisomy 20P
Highly arched eyebrow, Plagiocephaly, Umbilical hernia, Camptodactyly of finger, Downslanted palp... ORPHA:261318
Genitourinary And/Or Brain Malformation Syndrome
Short palpebral fissure, Joint stiffness, Upslanted palpebral fissure, Aplasia of the nasal bone,... OMIM:618820
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Omphalocele, Umbilical hernia ORPHA:254534
Seckel Syndrome
Downslanted palpebral fissures, Abnormal dental enamel morphology, Intrauterine growth retardatio... ORPHA:808
Branchioskeletogenital Syndrome
Depressed nasal bridge, Highly arched eyebrow, Broad nasal tip, Periorbital wrinkles, Umbilical h... ORPHA:1299
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Dentinogenesis imperfecta, Plagiocephaly, Multiple joint dislocation, Tracheomalacia,... ORPHA:536467
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Coronal craniosynostosis OMIM:601370
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormally large globe, Underdeveloped nasal alae, Ant... ORPHA:2729
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele OMIM:601357
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Wide nasal bridge, Ankle flexion contracture, Optic nerve hypoplasia, Bilateral microphthalmos, C... ORPHA:468631
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Plagiocephaly, Intrauterine growth retardation, Long eyelashes, Thick eye... OMIM:619833
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Death in infancy, Short nose OMIM:615042
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Depressed nasal bridge, Delayed cranial suture closure, Intrauterine growth retardation, Scaphoce... OMIM:620005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Epicanthu... OMIM:614069
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Anophthalmia, Microphthalmia ORPHA:77298
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Intrauterine growth retardation ORPHA:163976
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Large posterior fontanelle, Parietal foramina, Delayed c... ORPHA:85199
Vacterl With Hydrocephalus
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Microphthalmia, Femoral hernia, H... ORPHA:3412
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Upslanted palpebral fissure, Short nose OMIM:615716
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Plagiocephaly, Bulbous nose, Epicanthus, Brachycephaly, Frontal bossing, ... OMIM:618430
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Wide nasal bridge, Shallow acetabular fossae, Popliteal pterygium, Parietal foramina, Patellar hy... OMIM:609945
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intrauterine growth retardation, Death in childhood, Death in infancy, Enamel hypoplasia, Omphalo... OMIM:243150
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... OMIM:101400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed cranial suture closure, Generalized lipodystrophy, Decreased adipose tissue around neck, ... OMIM:608612
Distal Duplication 18Q
Choanal atresia, Camptodactyly of finger, Anteverted nares, Prominent nasal bridge, Dolichocephal... ORPHA:1716
Fryns Syndrome
Wide nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Omphalocele, Microphthalmia ORPHA:2059
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Multiple lipomas, Frontal bossing, Short nose ORPHA:210548
14Q22Q23 Microdeletion Syndrome
Underdeveloped nasal alae, Downslanted palpebral fissures, Optic nerve aplasia, Anophthalmia, Epi... ORPHA:264200
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Frontal bossing, Joint hypermobility, Epicanthus, Cutis laxa, Biparietal ... OMIM:605309
Omphalocele Syndrome, Shprintzen-Goldberg Type
Sparse lateral eyebrow, Downslanted palpebral fissures, Short columella, Telecanthus, Omphalocele... ORPHA:3164
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Abnormally large globe, Decreased calvarial ossification OMIM:614592
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Telecanthus, Thick eyebrow, Ptosis, White eyebrow, ... ORPHA:894
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Joint stiffness, Genu valgum, Telecanthus, Abnormal nostril morphology, Short nose, Syno... ORPHA:1295
Premature Aging Syndrome, Penttinen Type
Keloids, Delayed cranial suture closure, Frontal bossing, Thin calvarium, Narrow nose, Prominent ... OMIM:601812
Harel-Yoon Syndrome
Frontal bossing, Upslanted palpebral fissure, Short nose OMIM:617183
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Intrauterine growth retardation, Prominent nas... ORPHA:251071
White-Kernohan Syndrome
Depressed nasal bridge, Short palpebral fissure, Horizontal eyebrow, Underdeveloped nasal alae, A... OMIM:619426
Tetrasomy 18P
Epicanthus, Short nose, Downslanted palpebral fissures ORPHA:3307
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downslanted palpebral fissures, Intrauterine growth retardation, Dorsocervical fat pad, Anteverte... ORPHA:391408
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Depressed nasal bridge, Downslanted palpeb... OMIM:614188
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Anteverte... OMIM:617201
15Q Overgrowth Syndrome
Wide nasal bridge, Contracture of the proximal interphalangeal joint of the 2nd finger, Downslant... ORPHA:314585
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Inguinal hernia, Neonatal death, Epicanthus, Omphalocele, Patent... OMIM:269860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Wide nasal bridge, Osteopenia, Plagiocephaly, Underdeveloped nasal alae, Intrauterine growth reta... ORPHA:453499
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Brachycephaly, Bicoronal synostosis, Short nose ORPHA:93258
Fraser Syndrome
Wide nasal bridge, Depressed nasal bridge, Lacrimal duct aplasia, Underdeveloped nasal alae, Umbi... ORPHA:2052
Simpson-Golabi-Behmel Syndrome
Wide nasal bridge, Congenital hip dislocation, Umbilical hernia, Camptodactyly of finger, Downsla... ORPHA:373
Dubowitz Syndrome
Depressed nasal bridge, Sparse lateral eyebrow, Delayed cranial suture closure, Dry skin, Intraut... ORPHA:235
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Brachycephaly, Ptosis, Flexion contracture, Short nose OMIM:218000
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Sparse lateral eyebrow, Downslanted palpebral fissures, Anteverted nares,... ORPHA:314655
Carpenter Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Highly arched eyebrow, Umbilical herni... OMIM:614976
Leukodystrophy, Hypomyelinating, 10
Prominent eyelashes, Downslanted palpebral fissures, Bulbous nose, Anteverted nares, Upslanted pa... OMIM:616420
Cranioectodermal Dysplasia 3
Dry skin, Scaphocephaly, Telecanthus, Joint hypermobility, Cutis laxa, Sagittal craniosynostosis,... OMIM:614099
Van Den Ende-Gupta Syndrome
Depressed nasal bridge, Joint contracture of the hand, Camptodactyly of 2nd-5th fingers, Underdev... OMIM:600920
Tetrasomy 5P
Wide nasal bridge, Anteverted nares, Upslanted palpebral fissure, Pericallosal lipoma, Redundant ... ORPHA:3309
Say-Barber-Miller Syndrome
Highly arched eyebrow, Sparse eyebrow, Broad nasal tip, Patellar hypoplasia, Elbow flexion contra... ORPHA:3132
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Intrauterine growth retardation, Bicoronal synostosis, Prominent nasal bridge, J... OMIM:619184
Gapo Syndrome
Depressed nasal bridge, Sparse eyebrow, Plagiocephaly, Delayed cranial suture closure, Umbilical ... OMIM:230740
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Short palpebral fissure, Plagiocephaly, Highly arched eyebrow, Underdevel... OMIM:619005
Fryns Syndrome
Wide nasal bridge, Joint contracture of the hand, Anteverted nares, Microphthalmia, Blepharophimo... OMIM:229850
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Cran... OMIM:259700
Distal Deletion 9P
Wide nasal bridge, Trigonocephaly, Upslanted palpebral fissure, Hernia, Epicanthus, Short nose ORPHA:1642
7Q11.23 Microduplication Syndrome
Broad nasal tip, Horizontal eyebrow, Tracheomalacia, Long eyelashes, Abnormal columella morpholog... ORPHA:96121
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Limitation of joint mobility, Humeroradial synostosis, Radioulnar synostosis, Elbow ankylosis, Ta... ORPHA:95699
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Highly arched eyebrow, Skull asymmetry, Bilateral ptosis, Anteverted nares, Th... OMIM:614701
Cenani-Lenz Syndrome
Synostosis of joints, Synostosis of carpal bones, Elbow dislocation, Downslanted palpebral fissur... ORPHA:3258
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Vacterl/Vater Association
Intrauterine growth retardation, Large fontanelles, Congenital diaphragmatic hernia, Omphalocele ORPHA:887
Prolidase Deficiency
Depressed nasal bridge, Skin ulcer, Petechiae, Ptosis, Concave nasal ridge, Short nose OMIM:170100
Pediatric-Onset Graves Disease
Small anterior fontanelle, Craniosynostosis, Intrauterine growth retardation, Abnormal eyelid mor... ORPHA:525731
Curry-Jones Syndrome
Craniosynostosis, Microphthalmia ORPHA:1553
Holoprosencephaly 9
Choanal atresia, Depressed nasal bridge, Broad nasal tip, Single naris, Anophthalmia, Absent lacr... OMIM:610829
Jacobsen Syndrome
Depressed nasal bridge, Nasolacrimal duct obstruction, Trigonocephaly, Intrauterine growth retard... OMIM:147791
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Osteopenia, Wide nasal bridge, Optic nerve hypoplasia, Broad nasal t... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Osteopenia, Wide nasal bridge, Optic nerve hypoplasia, Broad nasal t... ORPHA:352665
16P12.1P12.3 Triplication Syndrome
Short palpebral fissure, Bulbous nose, Intrauterine growth retardation, Thick eyebrow, Epicanthus... ORPHA:485405
Bladder Exstrophy
Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia ORPHA:93930
Monosomy 9P
Choanal atresia, Depressed nasal bridge, Highly arched eyebrow, Limitation of joint mobility, Dow... ORPHA:261112
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Joint dislocation, Anteverted n... ORPHA:950
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Anteverted nares, Upslanted palpebral fissure, Short nose OMIM:618437
Pseudotrisomy 13 Syndrome
Upslanted palpebral fissure, Omphalocele, Microphthalmia OMIM:264480
Poikiloderma With Neutropenia
Depressed nasal bridge, Sparse eyebrow, Sparse lateral eyebrow, Underdeveloped nasal alae, Joint ... OMIM:604173
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Abnormally large globe, Plagiocephaly, Broad nasal tip,... OMIM:239300
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Short palpebral fissure, Broad nasal tip, Downslanted palpebral fissures,... OMIM:309590
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Downslanted palpebral fissures, Trigonocephaly, Anteverted nares, Telecanthus, U... OMIM:610536
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
22Q11.2 Deletion Syndrome
Epicanthus, Patellar dislocation, Microphthalmia, Purpura, Patent ductus arteriosus, Choanal atre... ORPHA:567
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Prominent occiput, Ing... ORPHA:7
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Highly arched eyebrow, Broad nasal tip, Anteverted nares, Short columella, Long eyela... ORPHA:363611
Microphthalmia, Syndromic 5
Microphthalmia, Optic nerve hypoplasia, Anophthalmia, Joint hypermobility OMIM:610125
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Wrist hypermobility, Narrow nasal bridge, Inguinal hernia, Joint hypermobility, Finger joint hype... ORPHA:544503
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Advanced ossification ... OMIM:614613
Charge Syndrome
Choanal atresia, Anosmia, Depressed nasal bridge, Highly arched eyebrow, Umbilical hernia, Intrau... ORPHA:138
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Epicanthus, Patent ductus arteriosus, Genu... OMIM:616268
Aarskog-Scott Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Anteverted nares, Inguinal hernia, Joint hyper... OMIM:305400
Microphthalmia, Syndromic 2
Bifid nasal tip, Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Thick eyebrow, Anopht... OMIM:300166
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Downslanted palpebral fissures, Long eyelashes, Upslanted palpebral fissure, F... OMIM:620250
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Underdeveloped nasal alae, Anteverted nares, Ptosis, Blepharophimosis, Biparietal narrowing, Shor... ORPHA:2031
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent eyelashes, Trigonocephaly, Prominent nasal bridge, Upslanted palpebr... OMIM:619179
Mandibulofacial Dysostosis-Microcephaly Syndrome
Trigonocephaly, Telecanthus, Upslanted palpebral fissure, Epicanthus, Short nose ORPHA:79113
Cockayne Syndrome Type 1
Foot joint contracture, Anophthalmia, Scarring, Enamel hypoplasia, Conjunctivitis ORPHA:90321
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose OMIM:137550
Shprintzen Omphalocele Syndrome
Flared nostrils, Wide nasal bridge, Short columella, Epicanthus, Omphalocele OMIM:182210
Acrofacial Dysostosis, Cincinnati Type
Epicanthus, Patent ductus arteriosus, Short nose, Choanal atresia, Downslanted palpebral fissures... OMIM:616462
Omodysplasia 1
Axillary pterygium, Wide nasal bridge, Depressed nasal bridge, Popliteal pterygium, Limited knee ... OMIM:258315
Femoral-Facial Syndrome
Radioulnar synostosis, Upslanted palpebral fissure, Inguinal hernia, Short nose ORPHA:1988
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Depressed nasal bridge, Small anterior fontanelle, Long eyelashes, Sho... OMIM:617802
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Elbow flexion contracture, Bulbous nose, Anteverted nares, Acetabular dys... ORPHA:508533
Raine Syndrome
Choanal atresia, Depressed nasal bridge, Plagiocephaly, Highly arched eyebrow, Brachyturricephaly... OMIM:259775
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Wide nasal bridge, Osteopenia, Depressed nasal bridge, Umbilical hernia, Trigonocephaly, Scaphoce... OMIM:266920
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Depressed nasal bridge, Tracheomalacia, Downslanted palpebral fissures, Upslanted palpebral fissu... ORPHA:412069
Alpha-Mannosidosis, Infantile Form
Osteopenia, Depressed nasal bridge, Highly arched eyebrow, Cranial hyperostosis, Umbilical hernia... ORPHA:309282
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Intrauterine growth retardation, Patent ductus arteriosus, Joint c... OMIM:618005
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Frontal bossing, Downslanted palpebral fissures, Dry skin, Anteverted nar... ORPHA:1340
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Inguinal hernia,... OMIM:252600
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Hip dislocation, Death in infancy, Short nose OMIM:241800
Microphthalmia With Limb Anomalies
Synostosis of joints, Depressed nasal bridge, Synostosis of carpal bones, Elbow dislocation, Camp... ORPHA:1106
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Elbow dislocation, Patellar dislocation, Frontal bossing, Short nose ORPHA:93328
Pseudoaminopterin Syndrome
Highly arched eyebrow, Synostosis of carpal bones, Talipes valgus, Prominent nasal bridge, Inguin... ORPHA:221120
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Depressed nasal bridge, Broad nasal tip, Narrow nose, Intrauterine growth retardation, Telecanthu... OMIM:300707
Nicolaides-Baraitser Syndrome
Wide nasal base, Periorbital wrinkles, Umbilical hernia, Premature skin wrinkling, Bulbous nose, ... OMIM:601358
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Enlarged Parietal Foramina
Craniosynostosis, Parietal foramina ORPHA:60015
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Plagiocephaly, Downslanted palpebral fissures, Short columella, Turricephaly, ... OMIM:613603
Cerebrofaciothoracic Dysplasia
Downslanted palpebral fissures, Thick eyebrow, Hernia, Epicanthus, Brachycephaly, Synophrys, Shor... ORPHA:1394
Desbuquois Dysplasia 1
Depressed nasal bridge, Joint dislocation, Intrauterine growth retardation, Advanced tarsal ossif... OMIM:251450
Toluene Embryopathy
Epicanthus, Short palpebral fissure, Biparietal narrowing, Short nose ORPHA:1920
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Joint contracture of the hand, Depressed nasal bridg... OMIM:235510
Frontometaphyseal Dysplasia
Wide nasal bridge, Joint contracture of the hand, Keloids, Interphalangeal joint contracture of f... ORPHA:1826
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Short palpebral fissure, Plagiocephaly, Inguinal herni... OMIM:613457
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Anteverted nares, Long eyelashes, Epicant... ORPHA:357001
Zttk Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Downslanted palpebral fissures, Intrau... OMIM:617140
Degcags Syndrome
Osteopenia, Plagiocephaly, Tracheomalacia, Abnormal eyebrow morphology, Intrauterine growth retar... OMIM:619488
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Elbow dislocation, Anophthalmia, Truncus arteriosus, Hiatus hernia, Microphthalmia... ORPHA:2538
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Plagiocephaly, Broad nasal tip, Abnormally large globe, Downslanted palpebral ... OMIM:300749
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Erythema, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, ... ORPHA:2556
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, Optic disc hypoplasia, Nasal congestion, Epiphyseal stipp... ORPHA:79345
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Sparse eyelashes, Epicanthus, Keratoconjunctivitis sicca, Microphthalmia, Short... OMIM:234050
Warburg Micro Syndrome 3
Ankle clonus, Brachycephaly, Blepharophimosis, Microphthalmia, Flexion contracture, Short nose OMIM:614222
Congenital Heart Defects And Skeletal Malformations Syndrome
Narrow nose, Intrauterine growth retardation, Congenital diaphragmatic hernia, Upslanted palpebra... OMIM:617602
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Inguinal hernia, Short no... ORPHA:2719
Oculodentodigital Dysplasia
Hip dislocation, Short palpebral fissure, Underdeveloped nasal alae, Narrow nose, Narrow nasal br... OMIM:164200
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Microphthalmia, Vertebral fusion, Frontal bossing, Patent duct... OMIM:206900
Curry-Jones Syndrome
Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Blepharophimosis, Microphthalmia OMIM:601707
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Recurrent upper respiratory tract infections, Umbilical hernia, Dry skin, Deat... OMIM:308205
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Wide nasal bridge, Osteopenia, Depressed nasal bridge, Upslanted palpebral fissure, Joint hypermo... ORPHA:369837
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Turricephaly ORPHA:1496
Constricting Bands, Congenital
Omphalocele, Bladder exstrophy, Gastroschisis, Eyelid coloboma OMIM:217100
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Anteverted nares, Genu valgum, Sparse ... ORPHA:560
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Joint stiffness, Anteverted nares, Upslanted palpebral... ORPHA:819
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Anteverted nares, Inguinal hernia, Brachycephaly, Synophrys, Femoral herni... ORPHA:96147
Stickler Syndrome Type 1
Short nose, Osteoarthritis, Joint hypermobility ORPHA:90653
Desmosterolosis
Joint contracture of the hand, Hypoplastic nasal bridge, Frontal bossing, Downslanted palpebral f... OMIM:602398
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Upslanted palpebral fissure, Thickene... OMIM:616331
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Choanal atresia, Erythema, Camptodactyly of finger, Abnormal dental enamel morphology, Thin eyebr... ORPHA:2273
Schneckenbecken Dysplasia
Stillbirth, Umbilical hernia, Advanced ossification of carpal bones, Advanced tarsal ossification... OMIM:269250
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Narrow naris, Telecanthus, Short nose OMIM:122880
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Long eyelashes... OMIM:615803
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Brachycephaly, Lipodystrophy, Frontal bossing, Hip dislocation, Short nose OMIM:608776
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Small fontanelle, Contr... ORPHA:3078
Thoracoabdominal Syndrome
Ventral hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia, Omphalocele OMIM:313850
Peho Syndrome
Limitation of joint mobility, Anteverted nares, Epicanthus, Biparietal narrowing, Palpebral edema... ORPHA:2836
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Absent nares, Omphalocele, Umbilical hernia ORPHA:2166
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Reduced bone mineral density, Short nose, Synophrys ORPHA:2983
Melnick-Needles Syndrome
Delayed cranial suture closure, Genu valgum, Limited elbow extension, Osteolytic defects of the p... OMIM:309350
Trichothiodystrophy 1, Photosensitive
Dry skin, Absence of subcutaneous fat, Death in infancy, Keratoconjunctivitis sicca, Microphthalm... OMIM:601675
Ogden Syndrome
Flared nostrils, Palpebral thickening, Large posterior fontanelle, Delayed cranial suture closure... OMIM:300855
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Cervical C5/C6 vertebrae fusion, Bulbous nose, Antever... OMIM:613458
Cranioectodermal Dysplasia 1
Wide nasal bridge, Scaphocephaly, Anteverted nares, Telecanthus, Inguinal hernia, Joint hypermobi... OMIM:218330
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Coronal craniosynostosis, Brachyturricephaly, Underdeveloped nasal alae, Downs... ORPHA:83617
Larsen Syndrome
Depressed nasal bridge, Accessory carpal bones, Large joint dislocations, Joint hypermobility, Cr... ORPHA:503
Meckel Syndrome, Type 1
Enlarged naris, Camptodactyly of finger, Intrauterine growth retardation, Ptosis, Omphalocele, Mi... OMIM:249000
Diamond-Blackfan Anemia 8
Wide nasal bridge, Short nose OMIM:612563
Dend Syndrome
Anteverted nares, Bilateral ptosis, Short nose, Prominent metopic ridge ORPHA:79134
Baller-Gerold Syndrome
Brachyturricephaly, Intrauterine growth retardation, Narrow nasal bridge, Large fontanelles, Prom... ORPHA:1225
Pontocerebellar Hypoplasia, Type 2E
Epicanthus, Osteoporosis, Flexion contracture, Short nose, Wide nose OMIM:615851
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Short nose, Optic nerve hypoplasia ORPHA:496790
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Delayed cranial suture closure, Anteverted nares, Concave nasal ridge, Fr... OMIM:613038
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Downslanted palpebral fissures, Anteverted nares, Short nose, Synophrys OMIM:617877
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Leukocoria, Retinal detachment, Corneal opacity,... OMIM:310600
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Platybasia, Congenital diaphragmatic hernia ORPHA:261197
Meier-Gorlin Syndrome 7
Choanal atresia, Copper beaten skull, Thin eyebrow, Aplasia/Hypoplasia of the patella, Joint hype... OMIM:617063
Fibrochondrogenesis 2
Anteverted nares, Frontal bossing, Short nose OMIM:614524
Stuve-Wiedemann Syndrome 1
Wide nasal base, Short palpebral fissure, Talipes valgus, Elbow flexion contracture, Pathologic f... OMIM:601559
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Downs... OMIM:616835
Menke-Hennekam Syndrome 1
Epicanthus, Blepharophimosis, Short nose, Depressed nasal ridge, Short palpebral fissure, Downsla... OMIM:618332
Choanal Atresia
Craniosynostosis, Tracheomalacia, Nasal congestion ORPHA:137914
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Intrauterine growth retardation, Corneal scarring, Patent duct... OMIM:618460
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Congenital hip dislocation, Depressed nasal bridge, ... OMIM:616007
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Upslanted palpebral fissure, Short nose, Narrow palpebral fissure OMIM:618087
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Frontal bossing, Short nose ORPHA:163961
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Depressed nasal bridge, Stillbirth, Elbow contracture, Umbilical hern... OMIM:304120
Desmosterolosis
Depressed nasal bridge, Abnormality of the nose, Downslanted palpebral fissures, Intrauterine gro... ORPHA:35107
Roberts Syndrome
Synostosis of carpal bones, Underdeveloped nasal alae, Patellar aplasia, Knee flexion contracture... ORPHA:3103
Focal Dermal Hypoplasia
Congenital hip dislocation, Broad nasal tip, Umbilical hernia, Aniridia, Narrow nasal bridge, Dia... OMIM:305600
Lathosterolosis
Downslanted palpebral fissures, Bulbous nose, Intrauterine growth retardation, Anteverted nares, ... ORPHA:46059
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Omphalocele, Umbilical hernia ORPHA:2241
Opsismodysplasia
Depressed nasal bridge, Joint stiffness, Large fontanelles, Short nose, Frontal bossing, Abnormal... ORPHA:2746
Wiedemann-Steiner Syndrome
Wide nasal bridge, Short palpebral fissure, Intrauterine growth retardation, Long eyelashes, Tele... ORPHA:319182
Bcard Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... OMIM:612394
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Rickets, Frontal bossing, Sacroiliac joint synovitis, G... ORPHA:89936
Peho Syndrome
Epicanthus, Short nose OMIM:260565
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Abnormal periosteum morph... ORPHA:313855
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
Autosomal Dominant Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, Elbow dislocation, Umbilical hernia, Camptodactyly of ... ORPHA:3107
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Polyarticular arthritis, Osteomalacia, Inc... ORPHA:289176
1P31P32 Microdeletion Syndrome
Craniosynostosis, Frontal bossing ORPHA:401986
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Anteverted nares, Limbal dermoid, Telecanthus, Eyelid coloboma, Epicanth... ORPHA:3339
Trisomy 10P
Depressed nasal bridge, Short palpebral fissure, Abnormality of the nose, Downslanted palpebral f... ORPHA:171929
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Highly arched eyebrow, Broad columella, Thick eyebrow, Short nose OMIM:617865
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Highly arched eyebrow, Bulbous nose, Prominent nose, Short columella, Long... OMIM:156200
Koolen-De Vries Syndrome Due To A Point Mutation
Wide nasal bridge, Short palpebral fissure, Joint dislocation, Tracheomalacia, Underdeveloped nas... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Wide nasal bridge, Short palpebral fissure, Joint dislocation, Tracheomalacia, Underdeveloped nas... ORPHA:363958
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Genu recurvatum, Osteopenia, Wide nasal bridge, Joint dislocation, Dislocated radial head, Atroph... OMIM:130070
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Plagiocephaly, Anteverted nares, Upslanted palpebral fissure, Camptodacty... OMIM:617822
Monosomy 9Q22.3
Umbilical hernia, Downslanted palpebral fissures, Trigonocephaly, Metopic synostosis, Joint hyper... ORPHA:77301
Gabriele-De Vries Syndrome
Sparse eyebrow, Downslanted palpebral fissures, Bulbous nose, Intrauterine growth retardation, Te... ORPHA:506358
Johanson-Blizzard Syndrome
Underdeveloped nasal alae, Intrauterine growth retardation, Absent lacrimal punctum, Death in inf... ORPHA:2315
Al-Raqad Syndrome
Short nose, Joint hypermobility OMIM:616459
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic nasal bridge, Depressed nasal bridge, Anteverted nares, ... OMIM:200600
Jacobsen Syndrome
Wide nasal bridge, Broad columella, Downslanted palpebral fissures, Trigonocephaly, Intrauterine ... ORPHA:2308
3Q29 Microdeletion Syndrome
Downslanted palpebral fissures, Prominent nasal bridge, Joint hypermobility, Microphthalmia, Pate... ORPHA:65286
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Inguinal hernia, Short nose, Downslanted palpebral fissures ORPHA:1786
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Ecchymosis, Joint hemorrhage, Short nose OMIM:277450
Micro Syndrome
Wide nasal bridge, Joint stiffness, Intrauterine growth retardation, Anteverted nares, Microphtha... ORPHA:2510
Warburg Micro Syndrome 2
Prominent nasal bridge, Brachycephaly, Microphthalmia, Flexion contracture, Short nose OMIM:614225
Esophageal Atresia
Choanal atresia, Laryngotracheomalacia, Pallor, Omphalocele ORPHA:1199
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Epicanthus, Short nose OMIM:242860
Autosomal Recessive Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, Synostosis of carpal bones, Elbow dislocation, Umbilic... ORPHA:1507
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Retinal detachment, Anter... ORPHA:83461
Oculodentodigital Dysplasia
Abnormality of the nose, Cranial hyperostosis, Umbilical hernia, Abnormal dental enamel morpholog... ORPHA:2710
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Osteopenia, Telecanthus, Joint hypermobility, Epicanthus, Long nose, Shor... OMIM:618590
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Omphalocele, Microphthalmia ORPHA:3186
Coffin-Lowry Syndrome
Highly arched eyebrow, Thick nasal septum, Broad columella, Downslanted palpebral fissures, Thick... OMIM:303600
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Petechiae, Neonatal de... OMIM:608013
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Downslanted palpebral fissures, Prominent nasal bridge, Wide nose, Increased suscepti... ORPHA:251028
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Short nose OMIM:619356
Ayme-Gripp Syndrome
Wide nasal bridge, Craniofacial asymmetry, Depressed nasal bridge, Delayed cranial suture closure... OMIM:601088
Branchiooculofacial Syndrome
Depressed nasal bridge, Atypical scarring of skin, Broad nasal tip, Nasolacrimal duct obstruction... OMIM:113620
Microcephaly-Capillary Malformation Syndrome
Ptosis, Short nose, Wide nose OMIM:614261
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Plagiocephaly, Downslanted palpebral fissures, Contracture of the pro... ORPHA:457279
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Joubert Syndrome 21
Ptosis, Anophthalmia, Single naris OMIM:615636
Faciodigitogenital Syndrome, Autosomal Recessive
Downslanted palpebral fissures, Anteverted nares, Prominent nasal bridge, Inguinal hernia, Long p... OMIM:227330
Hydrolethalus Syndrome 1
Stillbirth, Intrauterine growth retardation, Midline defect of the nose, Omphalocele, Microphthal... OMIM:236680
15q26 overgrowth syndrome
Wide nasal bridge, Abnormal joint morphology, Camptodactyly of finger, Bulbous nose, Prominent no... DECIPHER:81
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Recurrent fractures ORPHA:251004
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Joint stiffness, Elbow ankylosis, Hip dislocation, Short no... ORPHA:2557
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Congenital hip dislocation, Sparse eyebrow, Anteverted nares, Telecanthus... OMIM:244450
Jaberi-Elahi Syndrome
Depressed nasal bridge, Sparse eyebrow, Joint stiffness, Sparse eyelashes, Joint hypermobility, S... OMIM:617988
Congenital Disorder Of Glycosylation, Type Iie
Short palpebral fissure, Intrauterine growth retardation, Upslanted palpebral fissure, Excessive ... OMIM:608779
Cardiofaciocutaneous Syndrome 1
Osteopenia, Depressed nasal bridge, Palpebral thickening, Downslanted palpebral fissures, Bulbous... OMIM:115150
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Downslanted palpebral fissures, Gout, Death in childhood, Epicanthus, Pto... OMIM:300661
Pallister-Killian Syndrome
Delayed cranial suture closure, Congenital diaphragmatic hernia, Sparse eyelashes, Epicanthus, Pa... OMIM:601803
Cloacal Exstrophy
Hip dislocation, Cloacal exstrophy, Omphalocele, Bladder exstrophy ORPHA:93929
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Short nose OMIM:618618
Hyperlysinemia
Thin eyebrow, Craniosynostosis, Depressed nasal ridge ORPHA:2203
Adenylosuccinase Deficiency
Brachycephaly, Anteverted nares, Short nose, Prominent metopic ridge OMIM:103050
Beckwith-Wiedemann Syndrome
Umbilical hernia, Prominent occiput, Diastasis recti, Inguinal hernia, Congenital diaphragmatic h... ORPHA:116
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Wide nasal bridge, Plagiocephaly, Anteverted nares, Upslanted palpebral fissure, Epicanthus, Long... OMIM:620455
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Depressed nasal bridge, Sparse eyebrow, Sparse eyelashes, Absent eyel... OMIM:268400
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Umbilical hernia, Delayed cranial suture closure, Atrophic scars, Short colume... OMIM:601776
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Anosmia, Bicoronal synostosis, Anterior plagiocephaly, Joint hypermobility, Osteoporosis OMIM:619718
Kleefstra Syndrome
Highly arched eyebrow, Limitation of joint mobility, Tracheomalacia, Anteverted nares, Upslanted ... ORPHA:261494
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Large fontanelles, Long palpebral fissure, Shallow orbi... OMIM:258480
Roberts-Sc Phocomelia Syndrome
Wide nasal bridge, Ankle flexion contracture, Underdeveloped nasal alae, Narrow naris, Elbow flex... OMIM:268300
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Sparse eyebrow, Underdeveloped nasal alae, Periorbital wrinkles, Dry skin... OMIM:305100
Hennekam Syndrome
Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Epicanthus, Craniosynostosis ORPHA:2136
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Omphalocele ORPHA:1335
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Upslanted palpebral fi... OMIM:257300
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Epicanthus, Dislocated radial head, Hip dislocation, Short nose, ... OMIM:268310
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Sparse eyebrow, Downslanted palpebral fissures, Intrauterine growth retard... OMIM:620568
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Frontal bossing, Downslanted palpebral... ORPHA:500150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Epicanthus, Frontal bo... OMIM:614080
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Atrophic scars, Scarring, Enamel hypoplasia, Craniosynostosis ORPHA:79396
Chops Syndrome
Tracheomalacia, Anteverted nares, Long eyelashes, Thick eyebrow, Cervical C2/C3 vertebral fusion,... OMIM:616368
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Telecanthus, Upslanted palpebral fissure, Joint hypermo... ORPHA:1974
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Highly arched eyebrow, Intrauterine growth retardation, Anteverted nares, Ptos... ORPHA:2282
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Broad nasal tip, Carpal synostosis, Anteverted nares, Limited elbow extension, I... OMIM:272460
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Trigonocephaly, Contractures of the large joints, Short nose ORPHA:329178
Loeys-Dietz Syndrome 1
Dermal translucency, Downslanted palpebral fissures, Striae distensae, Inguinal hernia, Joint hyp... OMIM:609192
Charge Syndrome
Choanal atresia, Anosmia, Umbilical hernia, Downslanted palpebral fissures, Unilateral microphtha... OMIM:214800
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Shoulder flexion contracture, Downslanted palpebral fissures, Elbow flexion co... OMIM:620369
Geleophysic Dysplasia 1
Wide nasal bridge, Osteopenia, Joint contracture of the hand, Camptodactyly of finger, Joint stif... OMIM:231050
Iniencephaly
Abnormal occipital bone morphology, Congenital diaphragmatic hernia, Omphalocele, Arthrogryposis ... ORPHA:63259
Exstrophy-Epispadias Complex
Abdominal wall defect, Abnormal joint morphology, Cystocele, Inguinal hernia, Cloacal exstrophy, ... ORPHA:322
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Absent eyebrow, Omphalocele ORPHA:436252
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Short palpebral fissure, Broad nasal tip, Narrow naris... OMIM:617157
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Downslanted palpebral fissures, Long eyelashes, Brachycephaly, Shallow or... OMIM:601353
Malan Syndrome
Short nose, Downslanted palpebral fissures OMIM:614753
Down Syndrome
Depressed nasal ridge, Depressed nasal bridge, Umbilical hernia, Upslanted palpebral fissure, Joi... ORPHA:870
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Neonatal death, Brachycephaly, Omphalocele, Patent ductus arteriosus OMIM:265380
Loeys-Dietz Syndrome 3
Osteopenia, Hip osteoarthritis, Dermal translucency, Umbilical hernia, Atrophic scars, Striae dis... OMIM:613795
Temtamy Preaxial Brachydactyly Syndrome
Abnormally large globe, Synostosis of carpals/tarsals, Proximal symphalangism of hands, Tarsal sy... ORPHA:363417
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Posterior plagiocephaly, Broad nasal tip, Umbilical hernia, Scaphocephaly, Tel... OMIM:620330
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Intrauterine growth retardation, Anteverted nares, Prominent nose, Underdevelope... ORPHA:177907
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Underdeveloped nasal alae, Downslanted palpebral fissures, Anteverted nar... OMIM:300912
Ring Chromosome 7 Syndrome
Wide nasal bridge, Highly arched eyebrow, Plagiocephaly, Narrow naris, Downslanted palpebral fiss... ORPHA:1449
Beckwith-Wiedemann Syndrome
Prominent occiput, Large fontanelles, Diastasis recti, Omphalocele, Prominent metopic ridge OMIM:130650
Carey-Fineman-Ziter Syndrome
Downslanted palpebral fissures, Anteverted nares, Epicanthus, Ptosis, Short nose ORPHA:1358
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Horizontal eyebrow, Brachyturricephaly, Almond-shaped palpebral fissure, Joint hypermobility, Epi... ORPHA:522077
Microform Holoprosencephaly
Choanal atresia, Intrauterine growth retardation, Narrow nasal bridge, Anteverted nares, Midnasal... ORPHA:280200
Lathosterolosis
Anteverted nares, Epicanthus, Prominent nasal tip, Ptosis, Osteoporosis, Short nose OMIM:607330
Pallister-Hall Syndrome
Choanal atresia, Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Neona... OMIM:146510
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Depressed nasal ridge, Anophthalmia, Microphthalmia ORPHA:564
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Large fontanelles, Acroosteolysis of distal phalanges (feet), Convex n... ORPHA:90154
Loeys-Dietz Syndrome 2
Dermal translucency, Joint contracture of the hand, Umbilical hernia, Striae distensae, Inguinal ... OMIM:610168
Proteus Syndrome
Depressed nasal bridge, Cranial hyperostosis, Downslanted palpebral fissures, Abnormal dental ena... ORPHA:744
Slc39A8-Cdg
Elbow flexion contracture, Osteopenia, Craniosynostosis, Knee flexion contracture ORPHA:468699
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Camptodactyly of finger, Anteverted nares... ORPHA:261236
Cardiac Diverticulum
Abdominal wall defect, Umbilical hernia, Diastasis recti, Omphalocele, Patent ductus arteriosus ORPHA:1686
Helsmoortel-Van Der Aa Syndrome
Wide nasal bridge, Posterior plagiocephaly, Broad nasal tip, Short palpebral fissure, Downslanted... OMIM:615873
Neurodegeneration With Brain Iron Accumulation 2A
Frontal bossing, Short nose OMIM:256600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Long palpebral fissure, Broad nasal tip, Short nose OMIM:614207
Hartsfield Syndrome
Craniosynostosis, Hypoplasia of the frontal bone, Epicanthus, Wide nose OMIM:615465
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Patent ductus arteriosus, Omphalocele OMIM:306955
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Knee osteoarthritis, Thickened calvaria, Epicanthus, Sh... OMIM:154780
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Long eyelashes, Telecanthus, Hernia, Epicanthus, Conjunctivitis, Flexion contrac... ORPHA:505248
Doors Syndrome
Wide nasal base, Wide nasal bridge, Broad nasal tip, Bilateral ptosis, Bulbous nose, Anteverted n... ORPHA:79500
Pfeiffer Syndrome Type 2
Choanal atresia, Depressed nasal bridge, Limitation of joint mobility, Tracheomalacia, Short nose... ORPHA:93259
Toriello-Carey Syndrome
Short palpebral fissure, Sparse eyebrow, Intrauterine growth retardation, Telecanthus, Short nose... ORPHA:3338
Renal And Mullerian Duct Hypoplasia
Frontal bossing, Short nose OMIM:266810
Robinow Syndrome, Autosomal Dominant 1
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Downslanted palpebral fissures, Ante... OMIM:180700
Autosomal Recessive Malignant Osteopetrosis
Pallor, Chronic rhinitis, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Recurren... ORPHA:667
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Congenital ptosis, Slanting of the palpebral fissure, Short nose, Synophrys ORPHA:476126
Loeys-Dietz Syndrome
Atypical scarring of skin, Joint dislocation, Camptodactyly of finger, Striae distensae, Joint hy... ORPHA:60030
Pagod Syndrome
Death in infancy, Congenital diaphragmatic hernia, Omphalocele ORPHA:991
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Abnormal pelvis bone ossification, Absent or minimally ossified vertebral... ORPHA:93271
Deeah Syndrome
Short palpebral fissure, Intrauterine growth retardation, Death in childhood, Death in infancy, D... OMIM:619004
Schinzel-Giedion Midface Retraction Syndrome
Depressed nasal bridge, Increased density of long bones, Sclerosis of skull base, Anteverted nare... OMIM:269150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Dry skin, Reduced subcutaneous adipose tissue, Hip contracture, Short nose, Hyperextens... OMIM:619503
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Highly arched eyebrow, Downslanted palpebral fissures, Narrow nose, Intrauterine... OMIM:301044
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Plagiocephaly, Anophthalmia, Orbital cyst, Brachycephaly, Microphtha... OMIM:607932
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose OMIM:616430
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Depressed nasal bridge, Bulbous nose, Anteverted nares, Genu valgum, Limited elbow ex... OMIM:271510
Pfeiffer Syndrome Type 3
Choanal atresia, Depressed nasal bridge, Limitation of joint mobility, Tracheomalacia, Brachyturr... ORPHA:93260
Atelosteogenesis, Type I
Depressed nasal bridge, Elbow dislocation, Knee dislocation, Neonatal death, Stillbirth, Frontal ... OMIM:108720
Ear-Patella-Short Stature Syndrome
Elbow dislocation, Camptodactyly of finger, Intrauterine growth retardation, Patellar aplasia, Jo... ORPHA:2554
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Plagiocephaly, Tracheomalacia, Downslanted palpebral fissures, Anteverted ... ORPHA:444077
Witteveen-Kolk Syndrome
Flared nostrils, Congenital diaphragmatic hernia, Epicanthus, Microphthalmia, Short nose, Wide no... OMIM:613406
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Epicanthus, Short nose OMIM:301040
Microlissencephaly-Micromelia Syndrome
Palpebral edema, Short nose ORPHA:50810
Cadds
Intrauterine growth retardation, Short nose ORPHA:369942
Acrocallosal Syndrome
Wide nasal bridge, Umbilical hernia, Downslanted palpebral fissures, Prominent occiput, Inguinal ... OMIM:200990
Rhombencephalosynapsis
Anteverted nares, Septo-optic dysplasia, Short nose ORPHA:59315
Acromesomelic Dysplasia 1
Limited elbow extension, Joint hypermobility, Frontal bossing, Redundant skin on fingers, Short nose OMIM:602875
Bannayan-Riley-Ruvalcaba Syndrome
Anteverted nares, Joint hypermobility, Dolichocephaly, Lipoma, Frontal bossing, Short nose, Wide ... ORPHA:109
Peters-Plus Syndrome
Umbilical hernia, Intrauterine growth retardation, Diastasis recti, Upslanted palpebral fissure, ... OMIM:261540
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent upper respiratory tract infections, Erythema, Joint hypermobility, Craniosy... OMIM:147060
Sponastrime Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Shallow acetabular fossae, Ivory epiphys... ORPHA:93357
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Anteverted nares, Prominent occiput, Upslanted palpebral fissure, Epicanthus, Synoph... ORPHA:280633
Oeis Complex
Congenital hip dislocation, Cloacal exstrophy, Omphalocele, Bladder exstrophy OMIM:258040
Trisomy 8P
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Multiple ... ORPHA:264450
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Choanal atresia, Joint contracture of the hand, Depressed nasal bridge, Carpal synostosis, Humero... OMIM:201750
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Depressed nasal bridge, Anteverted nares, Telecanthus, Increased bone miner... ORPHA:50945
Molybdenum Cofactor Deficiency, Type B
Frontal bossing, Short nose, Neonatal death OMIM:252160
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Intrauterine growth retardation, Genu valgum, Convex nasal ridge, Flexion c... OMIM:619321
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short palpebral fissure, Intrauterine growth retardation, Upslanted palpe... OMIM:301030
Cornelia De Lange Syndrome
Choanal atresia, Depressed nasal bridge, Blepharitis, Highly arched eyebrow, Elbow dislocation, J... ORPHA:199
Schinzel-Giedion Syndrome
Broad nasal tip, Umbilical hernia, Sclerosis of skull base, Inguinal hernia, Stiff elbow, Radioul... ORPHA:798
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, Plagiocephaly, Osteomyelitis, Intrauterine growth retardation, Genu valgum, La... OMIM:619475
Femoral-Facial Syndrome
Hypoplastic acetabulae, Underdeveloped nasal alae, Camptodactyly of finger, Inguinal hernia, Hume... OMIM:134780
1P21.3 Microdeletion Syndrome
Broad nasal tip, Upslanted palpebral fissure, Short nose, Joint hypermobility ORPHA:293948
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Wide nasal bridge, Broad nasal tip, Downslanted palpebral fissures, Bulbous nose, Intrauterine gr... OMIM:619522
Pallister-Hall Syndrome
Choanal atresia, Depressed nasal ridge, Umbilical hernia, Downslanted palpebral fissures, Trigono... ORPHA:672
Craniofacial Microsomia 1
Block vertebrae, Genu valgum, Anophthalmia, Upper eyelid coloboma, Ptosis, Blepharophimosis, Micr... OMIM:164210
Peters Plus Syndrome
Depressed nasal bridge, Short palpebral fissure, Umbilical hernia, Intrauterine growth retardatio... ORPHA:709
Lipodystrophy, Familial Partial, Type 7
Facial wrinkling, Dry skin, Decreased adipose tissue around neck, Absence of subcutaneous fat, Re... OMIM:606721
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad nasal tip, Underdeveloped nasal alae, Intrauterine growth retardation, Prominent nasal brid... ORPHA:268261
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Short nose, Hyperextensibility of the finger joints ORPHA:521426
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal ridge, Depressed nasal bridge, Enlarged naris, Elbow flexion contracture, Epiphys... OMIM:271665
Robinow Syndrome
Flared nostrils, Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Anteverted nares, Fus... ORPHA:97360
Stickler Syndrome
Depressed nasal ridge, Depressed nasal bridge, Joint dislocation, Abnormal dental enamel morpholo... ORPHA:828
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Downslanted palpebral fissures, Inguinal hernia, Hip... ORPHA:821
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Short nose OMIM:617527
Orofaciodigital Syndrome Type 4
Choanal atresia, Depressed nasal ridge, Joint dislocation, Abnormal joint morphology, Camptodacty... ORPHA:2753
Williams Syndrome
Synostosis of joints, Death in early adulthood, Genu valgum, Radioulnar synostosis, Epicanthus, B... ORPHA:904
Molybdenum Cofactor Deficiency, Type A
Frontal bossing, Short nose OMIM:252150
Williams-Beuren Syndrome
Osteopenia, Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Intrauterine growth retard... OMIM:194050
Simpson-Golabi-Behmel Syndrome, Type 1
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Downslanted palpebral fissures, Trig... OMIM:312870
Phocomelia, Schinzel Type
Intrauterine growth retardation, Calvarial skull defect, Humeroradial synostosis, Short nose ORPHA:2879
Aspartylglucosaminuria
Wide nasal bridge, Umbilical hernia, Joint stiffness, Abnormal cortical bone morphology, Inguinal... ORPHA:93
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Osteomyelitis, Intrauterine growth retardation, Nasolacrimal sac granul... ORPHA:2968
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Wide nasal bridge, Highly arched eyebrow, Depressed nasal tip, Genu valgum, Telecanthus, Epicanth... ORPHA:261552
Geleophysic Dysplasia 2
Joint stiffness, Limitation of joint mobility, Short nose OMIM:614185
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis OMIM:601374
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Wide nasal bridge, Depressed nasal tip, Genu valgum, Telecanthus, Broad eyebrow, Ptosis, Right un... ORPHA:261537
Microphthalmia, Syndromic 1
Joint contracture of the hand, Anophthalmia, Ptosis, Microphthalmia, Camptodactyly OMIM:309800
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Penile Agenesis
Depressed nasal bridge, Short nose, Cloacal abnormality ORPHA:49
Xia-Gibbs Syndrome
Depressed nasal bridge, Ptosis, Upslanted palpebral fissure, Downslanted palpebral fissures OMIM:615829

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 Ahdc1

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 Ahdc1.

No publications found that use IMPC mice or data for Ahdc1.

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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
Ahdc1em2Xgs Point Mutation Mice
Ahdc1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ahdc1em1Xgs Point Mutation Mice

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