Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

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
Tracheomalacia, Downslanted palpebral fissures, Joint hypermobility, Craniosynostosis, Upslanted ... ORPHA:412069
Xia-Gibbs Syndrome
Ptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Depressed nasal bridge 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
Short nose, Metopic synostosis, Synophrys, Trigonocephaly, Omphalocele, Epicanthus, Craniosynosto... OMIM:190440
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Wide nasal bridge, Synophrys, Omphalocele ORPHA:3366
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge, Epicanthus, Omphalocele ORPHA:1906
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Inguinal hernia, Trigonocephaly, Small anterior fontanelle, Epicanth... OMIM:314320
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Cutis Laxa, Autosomal Recessive, Type Iie
Convex nasal ridge, Copper beaten skull, Inguinal hernia, Highly arched eyebrow, Long eyelashes, ... OMIM:619451
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Multiple suture craniosynostosis, Trigonocephaly, Small anterior fontanelle, Met... ORPHA:3369
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Frontal bossing, Downslanted palpebral fissures, Dolichocephaly, Epicanthus, Pa... ORPHA:1516
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia, Neonatal death, Broad nasal tip, W... OMIM:615524
Miller-Dieker Syndrome
Short nose, Anteverted nares, Epicanthus, Omphalocele ORPHA:531
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Dry skin, Omphalocele, Umbilical hernia, Depressed nasal bridge OMIM:275100
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Abnormal calvaria morphology, Metopic synostosis, Delayed cranial suture closure... OMIM:175700
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Ptosis, Left unicoronal synostosis, Sagittal c... OMIM:615314
Potocki-Shaffer Syndrome
Brachycephaly, Short nose, Turricephaly, Telecanthus, Parietal foramina, Sparse lateral eyebrow, ... OMIM:601224
Craniosynostosis, Philadelphia Type
Long palpebral fissure, Craniosynostosis ORPHA:1527
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Large fontanelles, Microphthalmia, Cloverleaf skull, Decreased skull ossification, Omphalocele, F... ORPHA:93267
Non-Distal Duplication 10Q
Brachycephaly, Short nose, Aplasia/Hypoplasia affecting the eye, Frontal bossing, Downslanted pal... ORPHA:1695
Hartsfield Syndrome
Microphthalmia, Telecanthus, Ptosis, Downslanted palpebral fissures, Intrauterine growth retardat... ORPHA:2117
Aurocephalosyndactyly
Craniosynostosis, Short columella OMIM:109050
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Craniosynostosis, Dry skin OMIM:218650
Distal Duplication 15Q
Omphalocele, Joint stiffness, Camptodactyly of finger, Downslanted palpebral fissures, Ptosis, Pr... ORPHA:1707
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Anteverted nares, Synophrys, Long eyelashes, Thick eyebrow, Broad nasa... ORPHA:411986
Teebi Hypertelorism Syndrome 1
Bilateral ptosis, Short nose, Highly arched eyebrow, Anteverted nares, Sagittal craniosynostosis,... OMIM:145420
Summitt Syndrome
Plagiocephaly, Genu valgum, Wide nose, Depressed nasal ridge, Prominent metopic ridge, Camptodact... ORPHA:3210
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Short nose, Large fontanelles, Turricephaly, Anteverted nares, Umbilical hernia, R... ORPHA:171839
Weiss-Kruszka Syndrome
Short nose, Highly arched eyebrow, Prominent nasal tip, Prominent metopic ridge, Ptosis, Downslan... ORPHA:502430
Frontonasal Dysplasia 2
Microphthalmia, Parietal foramina, Bifid nasal tip, Aplasia of the nasal bone, Intrauterine growt... OMIM:613451
Rhiny
Short nose, Anteverted nares, Inguinal hernia OMIM:180360
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft ala nasi, Anophthalmia, Orbital cyst, Congenital hip dislocation, Eyelid co... OMIM:164180
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Telecanthus, Frontal bossing, Umbilical hernia, Craniosynostosis... ORPHA:380
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Short nose, Wide anterior fontanel, Omphalocele, Downslanted pal... ORPHA:2143
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Craniosynostosis 1
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... OMIM:123100
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Corneopalpebral synechiae, Anophthalmia, Bifid nasal tip, Omphalocele, Cryptophth... OMIM:248450
17Q21.31 Microduplication Syndrome
Short nose, Anteverted nares, Synophrys, Thick eyebrow, Epicanthus ORPHA:217340
Lowry-Maclean Syndrome
Intrauterine growth retardation, Craniosynostosis, Convex nasal ridge OMIM:600252
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Microphthalmia, Telecanthus, Anteverted nares, Underdeveloped nasal alae, Coronal ... 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
Frontal bossing, Short nose, Anteverted nares, Epicanthus ORPHA:1450
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Anencephaly 2
Short palpebral fissure, Bifid nose, Anophthalmia OMIM:619452
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Telecanthus, Highly arched eyebrow, Limitation of joint mobility, De... ORPHA:178303
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Omphalocele
Omphalocele ORPHA:660
Adenylosuccinate Lyase Deficiency
Brachycephaly, Short nose, Anteverted nares, Prominent metopic ridge, Flat occiput ORPHA:46
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Elbow dislocation, Omphalocele ORPHA:85174
Frontoocular Syndrome
Short palpebral fissure, Trigonocephaly, Ptosis, Coronal craniosynostosis, Prominent nasal bridge... OMIM:605321
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria, Increased bone mineral density ORPHA:178377
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Brachycephaly, Telecanthus, Wide anterior fontanel, Decreased sk... OMIM:263210
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam... OMIM:616602
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Epicanthus ORPHA:2015
Microphthalmia With Limb Anomalies
Short palpebral fissure, Capitate-hamate fusion, Short nose, Microphthalmia, Camptodactyly of 2nd... OMIM:206920
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Ptosis,... OMIM:618736
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short nose, Anteverted nares, Long eyelashes, Ulnar deviation of th... OMIM:618577
Robinow-Sorauf Syndrome
Bilateral ptosis, Plagiocephaly, Long nose, Shallow orbits, Downslanted palpebral fissures, Pansy... OMIM:180750
Fg Syndrome 5
Short nose, Anteverted nares, Trigonocephaly, Epicanthus, Metopic synostosis, Upslanted palpebral... OMIM:300581
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Lacrimal duct atresia, Depressed nasal ridge, Camptodactyly... ORPHA:1529
Cerebrooculonasal Syndrome
Brachycephaly, Abnormal nostril morphology, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Epica... ORPHA:66625
17P13.3 Microduplication Syndrome
Short nose, Inguinal hernia, Wide nose, Congenital hip dislocation, Frontal bossing, Downslanted ... ORPHA:217385
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Death in infancy, Sparse eyelashes, Trigonocephaly, Downslanted palpebral fis... OMIM:616901
Tatton-Brown-Rahman Syndrome
Talipes valgus, Patellar subluxation, Anteverted nares, Optic nerve hypoplasia, Horizontal eyebro... OMIM:615879
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, Epicanthus OMIM:300577
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Brachycephaly, Plagiocephaly, Midline defect of the nose, Depres... ORPHA:1520
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
14Q11.2 Microdeletion Syndrome
Short nose, Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Patent ductus arteriosus, ... ORPHA:261120
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Telecanthus, Omphalocele, Broad nasal tip, Epicanthus, Patent ductus arteriosus, Upslanted palpeb... OMIM:601927
Cebalid Syndrome
Congenital diaphragmatic hernia, Brachycephaly, Plagiocephaly, Turricephaly, Short nose, Highly a... OMIM:618774
Cranioectodermal Dysplasia
Prominent occiput, Abnormal dental enamel morphology, Anteverted nares, Osteoporosis, Frontal bos... ORPHA:1515
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Obesity, Attenuation of retinal... OMIM:616188
Chromosome 3Q29 Duplication Syndrome
Short palpebral fissure, Short nose, Abnormally large globe, Downslanted palpebral fissures, Bulb... OMIM:611936
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly, Short nose, Telecanthus, Highly arched eyebrow, Optic nerve hypoplasia, Synophrys,... OMIM:618828
Cardiocranial Syndrome, Pfeiffer Type
Plantar flexion contracture, Downslanted palpebral fissures, Dolichocephaly, Umbilical hernia, In... ORPHA:2872
Parenti-Mignot Neurodevelopmental Syndrome
Prominent nasal tip, Synophrys, Frontal bossing, Prominent nasal bridge, Epicanthus, Craniosynost... OMIM:619873
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism OMIM:185700
Frontofacionasal Dysplasia
Brachycephaly, Short nose, Microphthalmia, Upper eyelid coloboma, Telecanthus, Dimple on nasal ti... ORPHA:1791
Exudative Vitreoretinopathy 4
Osteopenia, Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional reti... OMIM:601813
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Short palpebral fissure, Turricephaly, Low hanging columella, Long palpebral fissu... OMIM:613174
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Inguinal hernia, Anteverted nares, Diastasis recti, Wrist flexion contractur... ORPHA:254528
Chromosome 10Q26 Deletion Syndrome
Limited elbow extension, Convex nasal ridge, Flared nostrils, Omphalocele, Congenital hip disloca... OMIM:609625
Acrocephalopolydactyly
Short nose, Genu recurvatum, Depressed nasal ridge, Epicanthus, Premature closure of fontanelles,... ORPHA:221054
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Lethal Osteosclerotic Bone Dysplasia
Short nose, Large fontanelles, Anteverted nares, Delayed cranial suture closure, Depressed nasal ... ORPHA:1832
Autosomal Recessive Omodysplasia
Short nose, Pterygium, Anteverted nares, Frontal bossing, Hernia, Craniosynostosis, Elbow disloca... ORPHA:93329
C Syndrome
Short nose, Fused sternal ossification centers, Dislocated radial head, Anteverted nares, Omphalo... 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
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Reduced bone mineral density, Retinal neovascularization... ORPHA:891
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Decreased skull ossification, Omphalocele ORPHA:2141
Scarf Syndrome
Wide nasal base, Inguinal hernia, Craniosynostosis, Diastasis recti, Cutis laxa, Enamel hypoplasi... ORPHA:3134
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Highly arched eyebrow, Anteverted nares, Synophrys, Omphalocele, Patent ductus arteri... OMIM:618316
Craniotelencephalic Dysplasia
Craniosynostosis, Microphthalmia, Frontal bossing, Septo-optic dysplasia ORPHA:1528
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Frontal bossing, Downslanted palpebral fissures, Craniosynostosis, Depressed nasal... ORPHA:314575
Burn-Mckeown Syndrome
Short palpebral fissure, Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasa... ORPHA:1200
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, Distal symphalangism of hands OMIM:185900
Macrocephaly-Developmental Delay Syndrome
Palpebral edema, Frontal bossing, Downslanted palpebral fissures, Craniosynostosis, Narrow palpeb... ORPHA:397612
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Abnormal nasal morphology, Eyelid coloboma, Blepharophimosis ORPHA:1104
Antley-Bixler Syndrome
Brachycephaly, Short nose, Turricephaly, Anteverted nares, Delayed cranial suture closure, Choana... ORPHA:83
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Osteopenia, Short nose, Convex nasal ridge, Widely patent corona... ORPHA:2409
Trisomy 1Q
Congenital diaphragmatic hernia, Wide nose, Anophthalmia, Omphalocele, Camptodactyly of finger, D... ORPHA:261344
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Anteverted nares, Decreased skull ossification, Omphalocele OMIM:601163
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Ankyloblepharon OMIM:611038
Meckel Syndrome, Type 8
Short nose, Microphthalmia, Depressed nasal ridge, Anophthalmia OMIM:613885
Robinow Syndrome, Autosomal Recessive 2
Short nose, Ventral hernia, Anteverted nares, Camptodactyly, Long eyelashes, Omphalocele, Frontal... OMIM:618529
Kagami-Ogata Syndrome
Short palpebral fissure, Inguinal hernia, Anteverted nares, Diastasis recti, Omphalocele, Frontal... OMIM:608149
Carpenter Syndrome 1
Brachycephaly, Genu valgum, Lambdoidal craniosynostosis, Telecanthus, Shallow acetabular fossae, ... OMIM:201000
Microphthalmia, Isolated 8
Short palpebral fissure, Microphthalmia, True anophthalmia, Entropion, Anophthalmia, Optic nerve ... OMIM:615113
3Mc Syndrome 1
Lambdoidal craniosynostosis, Telecanthus, Highly arched eyebrow, Wide anterior fontanel, Diastasi... OMIM:257920
Hypomandibular Faciocranial Dysostosis
Brachycephaly, Short nose, Anteverted nares, Death in infancy, Trigonocephaly, Downslanted palpeb... ORPHA:1790
Developmental And Epileptic Encephalopathy 73
Short nose, Flexion contracture, Inguinal hernia, Narrow nasal bridge OMIM:618379
Craniosynostosis, Adelaide Type
Craniosynostosis, Carpal bone malsegmentation OMIM:600593
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Short nose, Convex nasal ridge, Turricephaly, Intrauterine growth retardation, Cra... ORPHA:2145
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Short nose, Turricephaly, Wide anterior fontanel, Anteverted nares, Downslanted pa... OMIM:601853
Trisomy 13
Microphthalmia, Abnormality of the fontanelles or cranial sutures, Anophthalmia, Abnormal eyelash... ORPHA:3378
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Death in adolescence, Long eyelashes, Ptosis, Flexion contracture, Craniosynostosis OMIM:619076
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Choanal atresia OMIM:612247
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Boomerang Dysplasia
Abnormal bone ossification, Abnormally ossified vertebrae, Omphalocele, Aplasia/Hypoplasia of the... ORPHA:1263
Otopalatodigital Syndrome, Type I
Limited elbow extension, Capitate-hamate fusion, Short nose, Prominent occiput, Dislocated radial... OMIM:311300
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Wide nose OMIM:125700
Chromosome 9P Deletion Syndrome
Inguinal hernia, Highly arched eyebrow, Anteverted nares, Choanal atresia, Omphalocele, Trigonoce... OMIM:158170
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Short nose, Wide anterior fontanel, Omphalocele, Hypoplasia of t... OMIM:222448
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Short nose, Genu valgum, Recurrent patellar dislocation, Coronal cranios... OMIM:614078
Hypophosphatasia, Childhood
Frontal bossing, Dolichocephaly, Craniosynostosis OMIM:241510
Scarf Syndrome
Lambdoidal craniosynostosis, Inguinal hernia, Diastasis recti, Coronal craniosynostosis, Enamel h... OMIM:312830
Clark-Baraitser Syndrome
Brachycephaly, Short nose, Low hanging columella, Anteverted nares, Dolichocephaly, Epicanthus, N... OMIM:617752
Craniosynostosis 2
Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Metopic synostosis, Tri... OMIM:604757
Craniotelencephalic Dysplasia
Craniosynostosis, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Short nose, Intrauterine growth retardation, Craniosynostosis, Depressed nasal bridge OMIM:614732
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Brachycephaly, Abnormal bone ossification, Short nose, Microphtha... ORPHA:163649
Acalvaria
Calvarial skull defect, Omphalocele ORPHA:945
Perlman Syndrome
Short nose, Inguinal hernia, Anteverted nares, Femoral hernia, Ptosis, Dolichocephaly, Epicanthus... ORPHA:2849
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short palpebral fissure, Short nose, Anteverted nares, Camptodactyly, Frontal bossing, Downslante... OMIM:613604
Developmental And Epileptic Encephalopathy 89
Death in childhood, Highly arched eyebrow, Anteverted nares, Omphalocele, Downslanted palpebral f... OMIM:619124
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Inguinal hernia, Broad nasal tip, Prominent nasal bridge, Epicanthus, Umbilical herni... OMIM:613544
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly, Osteopenia, Abnormality of the orbital region, Carpal osteolysis, Pterygium, Osteo... ORPHA:371428
Crouzon Syndrome
Brachycephaly, Turricephaly, Choanal atresia, Multiple suture craniosynostosis, Frontal bossing, ... ORPHA:207
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Inguinal hernia, Elbow flexion contrac... OMIM:178110
Pierpont Syndrome
Brachycephaly, Short nose, Microphthalmia, Telecanthus, Wide nose, Broad nasal tip, Unilateral na... OMIM:602342
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Wide nose, Anteverted nares, Downslanted palpebral fissures, Epicanthus, Joint hypermobility, Cra... OMIM:619056
Craniosynostosis 4
Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Coronal craniosynostos... OMIM:600775
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis, Short nose, Depressed nasal bridge ORPHA:438178
Oculotrichoanal Syndrome
Microphthalmia, Upper eyelid coloboma, Anophthalmia, Bifid nasal tip, Cryptophthalmos, Nasolacrim... ORPHA:2717
Coffin-Siris Syndrome 7
Wide nose, Anteverted nares, Thick nasal alae, Trigonocephaly, Downslanted palpebral fissures, Th... OMIM:618027
Prognathism, Mandibular
Craniosynostosis, Ectropion of lower eyelids OMIM:176700
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Inguinal hernia, Camptodactyly, Trigonocephaly, Downslanted palpebral fissures, Sp... ORPHA:459061
Bartsocas-Papas Syndrome 1
Ectropion, Microphthalmia, Ablepharon, Inferiorly positioned umbilicus, Intrauterine growth retar... OMIM:263650
Cerebrooculonasal Syndrome
Brachycephaly, Short nose, Proboscis, Anophthalmia, Anteverted nares, Optic nerve hypoplasia, Spa... OMIM:605627
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Fibrochondrogenesis 1
Short nose, Stillbirth, Widely patent coronal suture, Wide anterior fontanel, Anteverted nares, C... OMIM:228520
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1355
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Telecanthus, Anteverted nares, Frontal bossing, Craniosynostosis, Depressed nasal bridge ORPHA:1064
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Hypochondroplasia
Limited elbow extension, Frontal bossing, Craniosynostosis, Genu varum, Depressed nasal bridge OMIM:146000
Pfeiffer Syndrome
Short nose, Cloverleaf skull, Brachyturricephaly, Choanal atresia, Shallow orbits, Coronal cranio... OMIM:101600
3Mc Syndrome 2
Limited elbow movement, Skull asymmetry, Highly arched eyebrow, Diastasis recti, Depressed nasal ... OMIM:265050
3Mc Syndrome
Telecanthus, Highly arched eyebrow, Diastasis recti, Ptosis, Downslanted palpebral fissures, Radi... ORPHA:293843
Cdags Syndrome
Brachycephaly, Ectropion, Large fontanelles, Lambdoidal craniosynostosis, Parietal foramina, Dela... OMIM:603116
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Intrauterine growth retardation, Craniosynostosis, Wide nose, Epicanthus OMIM:620428
Carpenter Syndrome
Turricephaly, Genu valgum, Cloverleaf skull, Umbilical hernia, Patent ductus arteriosus, Craniosy... ORPHA:65759
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Short nose, Telecanthus, Inguinal hernia, Atrophic scars, Camptodactyly, Persisten... OMIM:615539
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Short nose, Inguinal hernia, Highly arched eyebrow, Anteverted n... OMIM:618454
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Limb joint contracture, Knee flexion contracture, Intrauterine growth ... ORPHA:284417
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose, Absent eyelashes, Absent eyebrow OMIM:200130
Holoprosencephaly 7
Short nose, Midline defect of the nose, Microphthalmia, Bilateral microphthalmos, Hypoplastic nas... OMIM:610828
Osteoglosphonic Dysplasia
Abnormal bone ossification, Inguinal hernia, Anteverted nares, Choanal atresia, Craniosynostosis ORPHA:2645
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Absent eyelashes, Absent eyebrow, Frontal bossing, Downslanted palpebral fissure... ORPHA:166035
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Bilateral microphthalmos, Inguinal hernia, Anophthalmia, Truncus... OMIM:601186
Congenital Disorder Of Glycosylation, Type Iin
Joint hypermobility, Craniosynostosis, Osteopenia OMIM:616721
Miller-Dieker Lissencephaly Syndrome
Short nose, Inguinal hernia, Anteverted nares, Camptodactyly, Omphalocele, Frontal bossing, Epica... OMIM:247200
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Short nose, Microphthalmia, Telecanthus, Anteverted nares, Bipar... ORPHA:1915
Cole-Carpenter Syndrome 2
Osteopenia, Turricephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing,... OMIM:616294
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Dislocated radial head, Generalized ... OMIM:245600
Blepharonasofacial Malformation Syndrome
Inguinal hernia, Telecanthus, Wide nose, Abnormal eyelash morphology, Redundant skin, Sparse late... ORPHA:1252
Achondrogenesis
Short nose, Inguinal hernia, Abnormality of bone mineral density, Anteverted nares, Abnormal ench... ORPHA:932
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microphthalmia, Limitation of joint mobility, Camptodactyly of finger, Frontal bossin... ORPHA:2547
Gorlin-Chaudhry-Moss Syndrome
Brachycephaly, Upper eyelid coloboma, Abnormal eyelid morphology, Coronal craniosynostosis, Umbil... ORPHA:2095
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Anosmia, Choanal atresia, Midnasal stenosis, Abnormal nasopharynx m... OMIM:147250
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Microphthalmia, Craniosynostosis, Wide nose, Humeroradial synostosis, Ne... OMIM:251230
Non-Distal Duplication 13Q
Short nose, Abnormal eyelash morphology, Synophrys, Trigonocephaly, Aplasia/Hypoplasia affecting ... ORPHA:1702
Muenke Syndrome
Brachycephaly, Plagiocephaly, Cloverleaf skull, Coronal craniosynostosis, Ptosis, Downslanted pal... OMIM:602849
Acromicric Dysplasia
Short nose, Anteverted nares, Long eyelashes, Joint stiffness, Abnormal eyebrow morphology, Bulbo... ORPHA:969
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Arthropathy, Craniosynostosis, Scaphocephaly, Hip dislocation OMIM:618523
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Downslanted palpebral fissures, Broad nasal tip OMIM:613670
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly, Short nose, Bilateral microphthalmos, Camptodactyly, Horizontal eye... ORPHA:369891
3Q29 Microduplication Syndrome
Large fontanelles, Microphthalmia, Aniridia, Biparietal narrowing, Camptodactyly of toe, Downslan... ORPHA:251038
Dislocation Of The Hip-Dysmorphism Syndrome
Inguinal hernia, Abnormality of fontanelles, Anteverted nares, Depressed nasal ridge, Congenital ... ORPHA:2412
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Congenital bilateral ptosis, Microphthalmia, Elbow flexion contr... ORPHA:1692
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Short nose, Narrow nasal bridge, Long eyelashes, Thick eyebrow ORPHA:1514
Teebi Hypertelorism Syndrome 2
Short nose, Upper eyelid coloboma, Wide anterior fontanel, Ptosis, Broad nasal tip, Thick eyebrow... OMIM:619736
Fg Syndrome Type 1
Plagiocephaly, Inguinal hernia, Prominent occiput, Optic nerve hypoplasia, Limited elbow extensio... ORPHA:93932
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, S... ORPHA:401935
Mosaic Variegated Aneuploidy Syndrome 2
Short palpebral fissure, Short nose, Severe intrauterine growth retardation, Frontal bossing, Dow... OMIM:614114
Chung-Jansen Syndrome
Short nose, Anteverted nares, Synophrys, Thick eyebrow, Epicanthus, Joint hypermobility, Upslante... OMIM:617991
Cranioectodermal Dysplasia 4
Anteverted nares, Cutis laxa, Frontal bossing, Epicanthus, Joint hypermobility, Sagittal craniosy... OMIM:614378
Acrocephalopolydactylous Dysplasia
Short nose, Omphalocele, Epicanthus, Craniosynostosis, Upslanted palpebral fissure, Oxycephaly OMIM:200995
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Excessive wrinkled skin, Inguinal hernia, Wide anterior fontanel, Anteverted nares, R... OMIM:219200
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Ptosis, Broad nasal tip, Prominent nasal bridge, Epicanthus, Patent ductus arterio... ORPHA:457193
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Shallow orbits, Coronal craniosynostosis, Frontal bossi... OMIM:112240
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu valgum, Inguinal hernia, Telecanthus, Dislocated radial head, Genu recurvatum, W... OMIM:182212
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Short nose, Cubitus valgus, Telecanthus, Highly arched eyebrow, Anteverted nares, ... ORPHA:1327
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Trigonocephaly, Anteverted nares, Short nose, Epicanthus OMIM:618506
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Delayed cranial suture closure, Shallow orbits, Frontal bossing, Downslanted palpebra... ORPHA:1129
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Short nose, Ptosis, Frontal bossing,... OMIM:616723
Fetal Trimethadione Syndrome
Brachycephaly, Short nose, Synophrys, Ptosis, Epicanthus, Intrauterine growth retardation, Depres... ORPHA:1913
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Upslanted palpebral fissure, Abnormally ossified vertebrae, Omph... ORPHA:3035
Triploidy
Abnormality of the fontanelles or cranial sutures, Decreased skull ossification, Omphalocele, Apl... ORPHA:3376
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Bilateral ptosis, Large fontanelles, Brachycephaly, Plagiocephal... ORPHA:1272
Marshall-Smith Syndrome
Prominent occiput, Highly arched eyebrow, Optic nerve hypoplasia, Shallow orbits, Umbilical herni... OMIM:602535
Holoprosencephaly
Congenital diaphragmatic hernia, Microphthalmia, Highly arched eyebrow, Anosmia, Joint hypermobil... ORPHA:2162
Fibrochondrogenesis
Plagiocephaly, Wide anterior fontanel, Anteverted nares, Omphalocele, Camptodactyly of finger, Do... ORPHA:2021
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Short nose, Death in infancy ORPHA:1495
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Prominent occiput, Dolichocephaly, Depressed nasal bridge, Omphalocele OMIM:617895
Baker-Gordon Syndrome
Joint hypermobility, Short nose, Prominent nasal tip, Epicanthus OMIM:618218
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Telecanthus, Almond-shaped palpebral fissure, Downslanted palpebral fissures, Epicant... OMIM:620292
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short nose, Reduced bone mineral density ORPHA:2370
Robinow Syndrome, Autosomal Dominant 3
Short nose, Telecanthus, Anteverted nares, Camptodactyly, Long eyelashes, Omphalocele, Frontal bo... OMIM:616894
Trisomy 18
Congenital diaphragmatic hernia, Short nose, Microphthalmia, Abnormality of the fontanelles or cr... ORPHA:3380
Auriculocondylar Syndrome 2B
Limbal dermoid, Telecanthus, Synophrys, Omphalocele OMIM:620458
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Cloverleaf skull, Anteverted nares, Choanal atresia, Ptosis, Downslanted palpebral ... ORPHA:1555
Crouzon Syndrome
Brachycephaly, Deviated nasal septum, Lambdoidal craniosynostosis, Shallow orbits, Coronal cranio... OMIM:123500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Microphthalmia, Unicoronal synostosis, Flat acetabular roof, Omphalocele, Sparse eyeb... OMIM:616300
Nablus Mask-Like Facial Syndrome
Short palpebral fissure, Short nose, Telecanthus, Highly arched eyebrow, Anteverted nares, Absent... OMIM:608156
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Redundant neck skin, Redundant umbilical skin, Cloverleaf skull, Antever... OMIM:123790
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Depressed nasal ridge, Striae distensae, Depressed nasal... ORPHA:1248
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Short nose, Telecanthus, Narrow nasal bridge, Low hanging columella, Anteverted na... OMIM:619383
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Choanal atresia, Synophrys, Joint stiffness, Frontal bossing, Aplas... ORPHA:1895
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Short nose, Inguinal hernia, Anteverted nares, Dry skin, Sparse eyelashe... OMIM:613026
Frontofacionasal Dysplasia
Brachycephaly, S-shaped palpebral fissures, Midline defect of the nose, Short nose, Microphthalmi... OMIM:229400
20Q11.2 Microduplication Syndrome
Brachycephaly, Limited elbow extension, Palpebral edema, Short nose, Abnormal nasal bridge morpho... ORPHA:363659
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Microphthalmia, Skin ulcer, Panniculitis, Wide nose, Anophthalmia, Anteverted nares... ORPHA:2526
Vitamin K Antagonist Embryofetopathy
Short nose, Epiphyseal stippling, Anteverted nares, Choanal atresia, Aplasia/Hypoplasia affecting... ORPHA:1914
Acrocraniofacial Dysostosis
Turricephaly, Genu valgum, Telecanthus, Anteverted nares, Choanal atresia, Ptosis, Downslanted pa... ORPHA:949
Glutamine Deficiency, Congenital
Short nose, Erythema, Anteverted nares, Camptodactyly, Neonatal death, Flexion contracture, Wide ... OMIM:610015
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Microphthalmia, Patent ductus arteriosus, Abnormal adipose tissu... ORPHA:2092
Ablepharon Macrostomia Syndrome
Excessive wrinkled skin, Anteverted nares, Absent eyelashes, Underdeveloped nasal alae, Redundant... ORPHA:920
Baraitser-Winter Syndrome 1
Short nose, Microphthalmia, Highly arched eyebrow, Anteverted nares, Long palpebral fissure, Ptos... OMIM:243310
Proboscis Lateralis
Microphthalmia, Single naris, Proboscis, Anophthalmia, Orbital cyst, Abnormal nasolacrimal system... ORPHA:141099
Hamamy Syndrome
Brachycephaly, Osteopenia, Inguinal hernia, Telecanthus, Recurrent fractures, Anteverted nares, N... OMIM:611174
Peho-Like Syndrome
Short nose, Epicanthus OMIM:617507
Pterygium Colli, Isolated
Short nose, Epicanthus OMIM:177990
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Cockayne Syndrome Type 2
Scarring, Anophthalmia, Enamel hypoplasia, Flexion contracture, Conjunctivitis, Intrauterine grow... ORPHA:90322
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lipoatrophy, Generalized lipodystrophy, Hyperextensibility of the finger joints, Narrow nasal rid... OMIM:616914
Maxillonasal Dysplasia, Binder Type
Short nose, Depressed nasal bridge, Short columella OMIM:155050
Myoectodermal Gonadal Dysgenesis Syndrome
Limited elbow extension, Scaling skin, Hypoplasia of the lacrimal punctum, Highly arched eyebrow,... OMIM:618419
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Skin ulcer, Craniosynostosis, Skin vesicle, Joint hypermobility, Cellulitis, Wide nas... ORPHA:2314
Distal Deletion 10Q
Brachycephaly, Short nose, Prominent metopic ridge, Frontal bossing, Downslanted palpebral fissur... ORPHA:96148
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Large fontanelles, Inguinal hernia, Telecanthus, Tracheomalacia,... ORPHA:2745
Isolated Anencephaly
Congenital diaphragmatic hernia, Intrauterine growth retardation, Omphalocele ORPHA:563609
19P13.12 Microdeletion Syndrome
Brachycephaly, Narrow nasal bridge, Anteverted nares, Synophrys, Epicanthus, Intrauterine growth ... ORPHA:254346
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares, Optic nerve hypoplasia, Thick eyebrow, Upslanted palpebral fissure ORPHA:228384
Odontochondrodysplasia
Short nose, Death in infancy, Frontal bossing, Dentinogenesis imperfecta, Patent ductus arteriosu... ORPHA:166272
Distal Duplication 5Q
Short nose, Downslanted palpebral fissures, Prominent nasal bridge, Epicanthus, Craniosynostosis,... ORPHA:96097
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Aniridia, Inguinal hernia, Anophthalmia, Abnormal size of the palpebral fissures, ... ORPHA:1101
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis, Humeroradial synostosis OMIM:614416
Achondrogenesis Type 1A
Short nose, Anteverted nares, Abnormal enchondral ossification, Femoral hernia, Frontal bossing, ... ORPHA:93299
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ... ORPHA:2484
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Brachycephaly, Osteopenia, Short nose, Lambdoidal craniosynostosis, Ankle clonus, Anteverted nare... OMIM:615398
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Short nose, Inguinal hernia, Wide nose, Highly arched eyebrow, Hyperextensibility ... OMIM:213980
Shprintzen-Goldberg Syndrome
Osteopenia, Genu valgum, Inguinal hernia, Telecanthus, Anteverted nares, Umbilical hernia, Campto... ORPHA:2462
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Thick eyebrow, Synophrys ORPHA:2429
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Lambdoidal craniosynostosis, Wide anterior fontanel, Choanal atresia, Camptodactyl... OMIM:207410
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Short palpebral fissure, Plagiocephaly, Epicanthus, Craniosynostosis, Upslanted pa... ORPHA:2163
9Q21.13 Microdeletion Syndrome
Long palpebral fissure, Ptosis, Wide nasal ridge, Craniosynostosis ORPHA:531151
Achondrogenesis Type 1B
Short nose, Anteverted nares, Abnormal enchondral ossification, Femoral hernia, Frontal bossing, ... ORPHA:93298
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Telecanthus, Metopic synostosis, Optic nerve hypoplasia, Downslanted palpebr... OMIM:301056
Fibular Hemimelia
Abnormal bone ossification, Limited knee flexion/extension, Hip subluxation, Knee joint hypermobi... ORPHA:93323
Marshall-Smith Syndrome
Short nose, Reduced bone mineral density, Anteverted nares, Choanal atresia, Joint hypermobility,... ORPHA:561
Tetrasomy 12P
Short nose, Telecanthus, Anteverted nares, Ptosis, Sparse eyebrow, Frontal bossing, Joint hypermo... ORPHA:884
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Abnormal subcutaneous fat tissue distribution, Short nose, Redundant neck skin, Excessive wrinkle... ORPHA:357074
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Microphthalmia, Anteverted nares, Frontal bossing, Downslanted palpebral fissures, Ep... OMIM:614105
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Dry skin, Mild intrauterine growth retardation, Coronal craniosyn... OMIM:616943
Apert Syndrome
Brachycephaly, Limited elbow movement, Large fontanelles, Lambdoidal craniosynostosis, Delayed ep... OMIM:101200
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Death in childhood, Anteverted nares, Coarse metaphyseal trabecularization, Patent du... OMIM:618961
Meckel Syndrome, Type 2
Intrauterine growth retardation, Microphthalmia, Omphalocele OMIM:603194
Bainbridge-Ropers Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Death... OMIM:615485
16P13.11 Microduplication Syndrome
Joint hypermobility, Craniosynostosis, Dolichocephaly ORPHA:261243
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Short nose, Long palpebral fissure, Anterior plagiocephaly, Broad nasal tip, Left ... OMIM:614749
Otopalatodigital Syndrome Type 2
Short nose, Large fontanelles, Tarsal synostosis, Increased bone mineral density, Synostosis of c... ORPHA:90652
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Short nose, Microphthalmia, Highly arched eyebrow OMIM:300887
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Short nose, Depressed nasal bridge, Epicanthus OMIM:616910
Noonan Syndrome 3
Short nose, Anteverted nares, Ptosis, Downslanted palpebral fissures, Frontal bossing, Dolichocep... OMIM:609942
Specc1L-Related Hypertelorism Syndrome
Brachycephaly, Short nose, Highly arched eyebrow, Omphalocele, Umbilical hernia, Ptosis, Downslan... ORPHA:1519
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Joint hypermobility, Craniosynostosis OMIM:618906
Muenke Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Coronal craniosynostosis, Ptosis, Carpal synostosis ORPHA:53271
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Large fontanelles, Death in childhood, Wide nose, Delayed epiphyseal ossification, An... OMIM:613320
Fetal Hydantoin Syndrome
Short nose, Abnormality of the fontanelles or cranial sutures, Depressed nasal ridge, Ptosis, Epi... ORPHA:1912
Arthrogryposis, Distal, Type 2A
Flexion contracture of toe, Wrist flexion contracture, Flexion contracture of finger, Hernia, Hip... OMIM:193700
Trisomy 12P
Short nose, Turricephaly, Aplasia/Hypoplasia affecting the eye, Thick eyebrow, Epicanthus, Aplasi... ORPHA:1699
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Choanal stenosis, Patent ductus arteriosus OMIM:241310
Au-Kline Syndrome
Plagiocephaly, Short nose, Bifid nasal tip, Shallow orbits, Sparse lateral eyebrow, Ptosis, Downs... OMIM:616580
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Palpebral edema, Prominent metopic ridge, Downslanted palpebral fissures, Epicanthus,... ORPHA:261144
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short palpebral fissure, Short nose, Highly arched eyebrow, Camptodactyly of finger, Dolichocepha... ORPHA:2083
C Syndrome
Congenital diaphragmatic hernia, Short nose, Joint dislocation, Dislocated radial head, Anteverte... ORPHA:1308
Ohdo Syndrome
Short nose, Anteverted nares, Ptosis, Sparse eyebrow, Epicanthus, Joint hypermobility, Wide nasal... OMIM:249620
Cranioectodermal Dysplasia 2
Plagiocephaly, Inguinal hernia, Telecanthus, Cutis laxa, Cloverleaf skull, Metopic synostosis, Sp... OMIM:613610
Facial Paresis, Hereditary Congenital, 3
Short nose, Anteverted nares, Unilateral ptosis, Lagophthalmos, Epicanthus, Depressed nasal bridge OMIM:614744
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Death in infancy, Decreased calvarial ossification, Cran... OMIM:241500
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Microphthalmia, Decreased skull ossification, Depressed nasal ridge, Frontal bossing,... OMIM:300863
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Plagiocephaly, Short nose, Telecanthus, Highly arched eyebrow, N... ORPHA:363528
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly, Short nose, Slender nose, Joint contracture, Intrauterine growth retardation OMIM:615419
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Craniosynostosis, Arthrogryposis... OMIM:618265
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Reduced bone mineral density, Cubitus valgus, Genu recurvatum, Anteverted nares, Ptos... ORPHA:1185
Musculocontractural Ehlers-Danlos Syndrome
Short nose, Large fontanelles, Inguinal hernia, Recurrent joint dislocation, Atrophic scars, Redu... ORPHA:2953
Jackson-Weiss Syndrome
Coronal craniosynostosis, Craniosynostosis, Calcaneonavicular fusion OMIM:123150
Foxp1 Syndrome
Short nose, Ptosis, Downslanted palpebral fissures, Broad nasal tip, Flexion contracture, Promine... ORPHA:391372
Lethal Congenital Contracture Syndrome 10
Stiff neck, Omphalocele, Downslanted palpebral fissures, Intrauterine growth retardation, Convex ... OMIM:617022
Alg9-Cdg
Brachycephaly, Short nose, Abnormal bone ossification, Telecanthus, Low insertion of columella, W... ORPHA:79328
Frontometaphyseal Dysplasia 1
Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... OMIM:305620
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Convex nasal ridge, Proximal radio-ulnar synostosis, Delayed crania... ORPHA:794
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Wide anterior fontanel, Choanal atresia, Depressed nasal bridge, Epicanthus, Umbilica... OMIM:610199
Fontaine Progeroid Syndrome
Microphthalmia, Turricephaly, Aplastic/hypoplastic lacrimal glands, Redundant skin, Death in infa... OMIM:612289
Verheij Syndrome
Short nose, Anteverted nares, Optic nerve hypoplasia, Truncus arteriosus, Broad nasal tip, Joint ... OMIM:615583
Even-Plus Syndrome
Brachycephaly, Short nose, Highly arched eyebrow, Bifid nasal tip, Depressed nasal ridge, Synophrys OMIM:616854
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Wide nose, Highly arched eyebrow, Optic nerve hypoplasia, Sparse lateral eyebrow, Ptosis, Downsla... OMIM:617506
Kagami-Ogata Syndrome
Inguinal hernia, Anteverted nares, Diastasis recti, Limitation of joint mobility, Omphalocele, Fr... ORPHA:254519
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Telecanthus, Ptosis, Broad n... OMIM:618050
Mucolipidosis Ii Alpha/Beta
Palpebral edema, Flat acetabular roof, Trigonocephaly, Umbilical hernia, Pathologic fracture, Cra... OMIM:252500
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Short nose, Redundant neck skin, Telecanthus, Tracheomalacia, Wide anter... OMIM:217980
Dermotrichic Syndrome
Frontal bossing, Short nose, Blepharophimosis, Depressed nasal bridge ORPHA:99688
Ruvalcaba Syndrome
Short nose, Inguinal hernia, Synostosis of carpal bones, Ptosis, Downslanted palpebral fissures, ... ORPHA:3121
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Brachycephaly, Osteopenia, Short nose, Telecanthus, Anteverted nares, Decreased skull ossificatio... OMIM:616897
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Microphthalmia, Depressed nasal ridge, Death in infancy, Frontal bossing, Intrauterin... ORPHA:163966
Osteopathia Striata With Cranial Sclerosis
Large fontanelles, Flexion contracture of toe, Tracheomalacia, Camptodactyly, Omphalocele, Fronta... OMIM:300373
Osteoglophonic Dysplasia
Osteopenia, Short nose, Telecanthus, Inguinal hernia, Cloverleaf skull, Anteverted nares, Nasal c... OMIM:166250
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short palpebral fissure, Short nose, Choanal atresia, Synophrys, Downslanted palpebral fissures, ... ORPHA:284169
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Distichiasis ORPHA:2598
Pycnodysostosis
Convex nasal ridge, Generalized osteosclerosis, Increased bone mineral density, Delayed cranial s... ORPHA:763
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Short nose, Upslanted palpebral fissure, Synophrys OMIM:300143
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Codas Syndrome
Short nose, Midline defect of the nose, Abnormal dental enamel morphology, Anteverted nares, Cong... ORPHA:1458
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Limbal dermoid, Abnormality of the knee, Omphalocele ORPHA:1834
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Wide nose, Depressed nasal ridge, Epicanthus ORPHA:2831
Ablepharon-Macrostomia Syndrome
Ventral hernia, Premature skin wrinkling, Absent eyelashes, Redundant skin, Dry skin, Camptodacty... OMIM:200110
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Inguinal hernia, Abnormal dental enamel morphology, Abnormal eyelid morphology, Dry s... ORPHA:1812
Codas Syndrome
Genu valgum, Anteverted nares, Delayed ossification of carpal bones, Broad skull, Omphalocele, Co... OMIM:600373
16P11.2P12.2 Microdeletion Syndrome
Long nose, Short nose, Anteverted nares, Camptodactyly of finger, Downslanted palpebral fissures,... ORPHA:261211
Bartsocas-Papas Syndrome
Popliteal pterygium, Short nose, Sparse or absent eyelashes, Synostosis of joints, Eyelid colobom... ORPHA:1234
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Inguinal hernia, Telecanthus, Anteverted nares, Intrauterine growth retardat... OMIM:618164
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Single naris, Inguinal hernia, Anophthalmia, Hyposmia, Anosmia, Absent nares ORPHA:2250
Diaphanospondylodysostosis
Absent in utero rib ossification, Short nose, Large fontanelles, Inguinal hernia, Tracheomalacia,... OMIM:608022
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Microphthalmia, Horizontal eyebrow, Frontal bossing, Dolichocephaly, Epicanthus, Narr... OMIM:618571
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Frontal bossing, Downslanted palpebral fissures, Sparse eyebrow, Broad columell... OMIM:250410
Fraser Syndrome 1
Bilateral microphthalmos, Upper eyelid coloboma, Cleft ala nasi, Wide nose, Anophthalmia, Absent ... OMIM:219000
Hypophosphatasia
Craniosynostosis, Large fontanelles, Recurrent fractures ORPHA:436
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Recurrent patellar dislocation, Long eyelashes, Cryptophthalmos, Ep... OMIM:615877
Hydrolethalus
Microphthalmia, Anophthalmia, Abnormality of the sense of smell ORPHA:2189
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Brachycephaly, Axillary pterygium, Hypoplastic nasal tip, Teleca... OMIM:304110
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Popliteal pterygium, Limitation of joint mobility, Omphalocele ORPHA:3329
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Wide nose, Diastasis recti, Midline nasal groove, Sparse eyebrow, Asymmetry of the... ORPHA:1521
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Genu valgum, Cubitus valgus, Short n... ORPHA:457395
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Prominent nasal bridge ORPHA:163971
Distal Triplication 15Q
Telecanthus, Camptodactyly, Flexion contracture, Patent ductus arteriosus, Intrauterine growth re... ORPHA:314588
Arterial Tortuosity Syndrome
Short palpebral fissure, Short nose, Inguinal hernia, Redundant skin, Femoral hernia, Joint hyper... ORPHA:3342
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Anteverted nares, Epicanthus, Aplasia/Hypoplasia of the eyebrow, 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
Short nose, Prominent nasal bridge, Flexion contracture, Patent ductus arteriosus, Bulbous nose, ... OMIM:613870
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Intrauterine growth retardation, Anophthalmia ORPHA:2470
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Synophrys DECIPHER:52
Baller-Gerold Syndrome
Limited elbow movement, Turricephaly, Carpal bone aplasia, Optic nerve hypoplasia, Severe intraut... OMIM:218600
Smith-Kingsmore Syndrome
Short nose, Wide anterior fontanel, Diastasis recti, Frontal bossing, Downslanted palpebral fissu... OMIM:616638
Mucolipidosis Type Ii
Inguinal hernia, Limited wrist movement, Diastasis recti, Limitation of joint mobility, Restricte... ORPHA:576
Trichothiodystrophy
Osteopenia, Ectropion, Bilateral microphthalmos, Joint dislocation, Increased bone mineral densit... ORPHA:33364
Pde4D Haploinsufficiency Syndrome
Brachycephaly, Short nose, Abnormal dental enamel morphology, Prominent nasal tip, Intrauterine g... ORPHA:439822
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short palpebral fissure, Long nose, Short nose, Low hanging columella, Highly arched eyebrow, Ant... OMIM:615866
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Short nose, Upslanted palpebral fissure, Depressed nasal bridge OMIM:613443
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Prominent nasal bridge, Upslanted palpebral fissure OMIM:300558
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Bicoronal synostosis, Camptodactyly of finger, Downslanted palpebral fissu... OMIM:619951
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Inguinal hernia, Anteverted nares, Metopic synostosis, Upslanted palpebral fissure OMIM:613735
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Short nose, Microphthalmia, Telecanthus, Prominent metopic ridge, Synoph... ORPHA:364577
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Depressed nasal bridge OMIM:302950
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Optic nerve hypoplasia, Generalized osteoporosis, Cu... ORPHA:536471
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Scarring, Osteopenia, Excessive wrinkled skin, Inguinal hernia, Joint dislocation, Osteo... ORPHA:1901
Phosphoribosylaminoimidazole Carboxylase Deficiency
Brachycephaly, Short nose, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Neonatal... OMIM:619859
Slc35A2-Cdg
Osteopenia, Hip subluxation, Camptodactyly of finger, Limb joint contracture, Joint hypermobility... ORPHA:356961
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Synophrys, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Epicanthus, Patent ... OMIM:617061
Weiss-Kruszka Syndrome
Short nose, Highly arched eyebrow, Anteverted nares, Prominent metopic ridge, Ptosis, Downslanted... OMIM:618619
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Miscarriage, Cutis laxa, Intrauterine growth retardation, Anteverted nares, ... ORPHA:96334
Caudal Duplication
Omphalocele ORPHA:1756
Trisomy 20P
Brachycephaly, Plagiocephaly, Short nose, Reduced bone mineral density, Inguinal hernia, Highly a... ORPHA:261318
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Diastasis recti, Omphalocele ORPHA:254534
Genitourinary And/Or Brain Malformation Syndrome
Short palpebral fissure, Short nose, Omphalocele, Joint stiffness, Ptosis, Acrania, Aplasia of th... OMIM:618820
Seckel Syndrome
Convex nasal ridge, Abnormal dental enamel morphology, Downslanted palpebral fissures, Joint hype... ORPHA:808
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Plagiocephaly, Multiple joint dislocation, Acetabular dysplasia, Short nose, Dermal t... ORPHA:536467
Branchioskeletogenital Syndrome
Brachycephaly, Blepharochalasis, Telecanthus, Highly arched eyebrow, Periorbital wrinkles, Synoph... ORPHA:1299
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:601370
Okamoto Syndrome
Short nose, Redundant neck skin, Abnormally large globe, Anteverted nares, Underdeveloped nasal a... ORPHA:2729
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Bilateral microphthalmos, Abnormality of the orbital region, Optic ner... ORPHA:468631
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele OMIM:601357
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Short nose, Medial flaring of the eyebrow, Long eyelashes, Thick eyebrow, Distal a... OMIM:619833
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Short nose, Congenital contracture OMIM:615042
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Delayed cranial suture closure, Depressed nasal tip, Absence of subcutaneous fat,... OMIM:620005
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Intrauterine growth retardation ORPHA:163976
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Patent ductus arteriosus ORPHA:77298
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Anteverted nares, Epicanthus, Recurrent upper respiratory tract infections, Depressed... OMIM:614069
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Abnormal dental enamel morphology, Absent eyelas... ORPHA:85199
Vacterl With Hydrocephalus
Microphthalmia, Inguinal hernia, Anophthalmia, Femoral hernia, Intrauterine growth retardation, H... ORPHA:3412
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Broad nasal tip, Upslanted palpebral fissure, Wide nasal bridge OMIM:615716
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Short nose, Frontal bossing, Epicanthus, Bulbous nose, Depressed na... OMIM:618430
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in childhood, Death in infancy, Omphalocele, Enamel hypoplasia, Intrauterine growth retarda... OMIM:243150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Short nose, Microphthalmia, Patellar hypoplasia, Inguinal hernia, Dislocated... OMIM:609945
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Short nose, Generalized lipodystrophy, Progressive clavicul... OMIM:608612
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Long nose, Lambdoidal craniosynostosis, Buphthalmos, Parietal foram... OMIM:101400
Distal Duplication 18Q
Short nose, Anteverted nares, Choanal atresia, Camptodactyly of finger, Dolichocephaly, Prominent... ORPHA:1716
Fryns Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Anteverted nares, Omphalocele, Wide nasal bridge ORPHA:2059
Macrocephaly-Intellectual Disability-Autism Syndrome
Frontal bossing, Short nose, Multiple lipomas, Depressed nasal bridge ORPHA:210548
14Q22Q23 Microdeletion Syndrome
Brachycephaly, Anophthalmia, Ptosis, Downslanted palpebral fissures, Optic nerve aplasia, Epicant... ORPHA:264200
Macrocephaly/Autism Syndrome
Short nose, Biparietal narrowing, Cutis laxa, Frontal bossing, Epicanthus, Joint hypermobility, D... OMIM:605309
Omphalocele Syndrome, Shprintzen-Goldberg Type
Telecanthus, Abnormal eyelash morphology, Omphalocele, Sparse lateral eyebrow, Downslanted palpeb... ORPHA:3164
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Abnormally large globe, Decreased calvarial ossification OMIM:614592
Waardenburg Syndrome Type 1
Short nose, Telecanthus, Synophrys, Ptosis, Thick eyebrow, White eyelashes, White eyebrow, Wide n... ORPHA:894
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Short nose, Microphthalmia, Recurrent fractures, Delayed cranial suture closure, Ost... OMIM:601812
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Genu valgum, Telecanthus, Anosmia, Synophrys, Joint stif... ORPHA:1295
Harel-Yoon Syndrome
Frontal bossing, Short nose, Upslanted palpebral fissure OMIM:617183
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Short nose, Biparietal narrowing, Downslanted palpebral fissures... ORPHA:251071
White-Kernohan Syndrome
Short palpebral fissure, Short nose, Telecanthus, Anteverted nares, Underdeveloped nasal alae, Sy... OMIM:619426
Tetrasomy 18P
Short nose, Downslanted palpebral fissures, Epicanthus ORPHA:3307
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short nose, Wide nose, Anteverted nares, Synophrys, Downslanted palpebral fissures, Epicanthus, D... ORPHA:391408
Craniosynostosis And Dental Anomalies
Brachycephaly, Convex nasal ridge, Turricephaly, Lambdoidal craniosynostosis, Wide nose, Prominen... OMIM:614188
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Omphalocele, Neonatal death, Epicanthus, Patent ductus arteriosus, Intrauterine ... OMIM:269860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Plagiocephaly, Prominent metopic ridge, Long palpebral fissure, Ptosis, Shallow orbit... ORPHA:453499
15Q Overgrowth Syndrome
Turricephaly, Telecanthus, Downslanted palpebral fissures, Dolichocephaly, Contracture of the pro... ORPHA:314585
Periventricular Nodular Heterotopia 7
Short nose, Anteverted nares, Dolichocephaly, Contracture of the proximal interphalangeal joint o... OMIM:617201
Pfeiffer Syndrome Type 1
Bicoronal synostosis, Short nose, Brachycephaly, Depressed nasal bridge ORPHA:93258
Fraser Syndrome
Microphthalmia, Cleft ala nasi, Anophthalmia, Underdeveloped nasal alae, Midline nasal groove, Om... ORPHA:2052
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Short nose, Inguinal hernia, Anteverted nares, Aplasia/Hypoplasi... ORPHA:373
Dubowitz Syndrome
Telecanthus, Wide anterior fontanel, Delayed cranial suture closure, Intrauterine growth retardat... ORPHA:235
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly, Short nose, Ptosis, Flexion contracture, Wide nasal bridge OMIM:218000
Leukodystrophy, Hypomyelinating, 10
Short nose, Anteverted nares, Downslanted palpebral fissures, Prominent eyelashes, Upslanted palp... OMIM:616420
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Short nose, Telecanthus, Anteverted nares, Prominent metopic ridge, Sparse lateral eyebrow, Ptosi... ORPHA:314655
Carpenter Syndrome 2
Brachycephaly, Patent ductus arteriosus, Highly arched eyebrow, Anteverted nares, Camptodactyly, ... OMIM:614976
Cranioectodermal Dysplasia 3
Telecanthus, Dry skin, Cutis laxa, Frontal bossing, Dolichocephaly, Joint hypermobility, Sagittal... OMIM:614099
Van Den Ende-Gupta Syndrome
Convex nasal ridge, Camptodactyly of 2nd-5th fingers, Dislocated radial head, Underdeveloped nasa... OMIM:600920
Tetrasomy 5P
Short nose, Redundant neck skin, Wide anterior fontanel, Anteverted nares, Epicanthus, Aplasia/Hy... ORPHA:3309
Say-Barber-Miller Syndrome
Convex nasal ridge, Panniculitis, Patellar hypoplasia, Ankle clonus, Highly arched eyebrow, Elbow... ORPHA:3132
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Long nose, Bicoronal synostosis, Tracheobronchomalacia, Joint stiffness, Enamel hypoplasia, Promi... OMIM:619184
Gapo Syndrome
Plagiocephaly, Short nose, Wide anterior fontanel, Delayed cranial suture closure, Anteverted nar... OMIM:230740
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short palpebral fissure, Plagiocephaly, Short nose, Death in childhood, Highly arched eyebrow, Lo... OMIM:619005
Fryns Syndrome
Stillbirth, Microphthalmia, Anteverted nares, Aplasia of the left hemidiaphragm, Camptodactyly, O... OMIM:229850
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Frontal ... OMIM:259700
Distal Deletion 9P
Short nose, Trigonocephaly, Epicanthus, Hernia, Upslanted palpebral fissure, Wide nasal bridge ORPHA:1642
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Brachycephaly, Abnormal columella morphology, Cubitus valgus, In... ORPHA:96121
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Turricephaly, Proximal tibial and fibular fusion, Craniosynostosis, Tarsal synostosis, Elbow flex... ORPHA:95699
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Bilateral ptosis, Short nose, Highly arched eyebrow, Anteverted nares, Synophrys, ... OMIM:614701
Cenani-Lenz Syndrome
Ectropion, Short nose, Abnormal dental enamel morphology, Synostosis of carpal bones, Synostosis ... ORPHA:3258
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Vacterl/Vater Association
Congenital diaphragmatic hernia, Large fontanelles, Intrauterine growth retardation, Omphalocele ORPHA:887
Prolidase Deficiency
Short nose, Skin ulcer, Petechiae, Ptosis, Depressed nasal bridge, Concave nasal ridge OMIM:170100
Pediatric-Onset Graves Disease
Intrauterine growth retardation, Craniosynostosis, Abnormal eyelid morphology, Small anterior fon... ORPHA:525731
Curry-Jones Syndrome
Craniosynostosis, Microphthalmia ORPHA:1553
Holoprosencephaly 9
Short nose, Microphthalmia, Single naris, Anophthalmia, Wide anterior fontanel, Optic nerve hypop... OMIM:610829
Jacobsen Syndrome
Short nose, Microphthalmia, Telecanthus, Anteverted nares, Abnormal eyelash morphology, Trigonoce... OMIM:147791
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Lambdoidal craniosynostosis, Metopic synostosis, Optic nerve hypoplasia, Shallow orbi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Lambdoidal craniosynostosis, Metopic synostosis, Optic nerve hypoplasia, Shallow orbi... ORPHA:352665
16P12.1P12.3 Triplication Syndrome
Short palpebral fissure, Short nose, Unilateral ptosis, Thick eyebrow, Epicanthus, Intrauterine g... ORPHA:485405
Bladder Exstrophy
Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy ORPHA:93930
Monosomy 9P
Congenital diaphragmatic hernia, Brachycephaly, Short nose, Microphthalmia, Highly arched eyebrow... ORPHA:261112
Acrodysostosis
Brachycephaly, Short nose, Joint dislocation, Telecanthus, Epiphyseal stippling, Anteverted nares... ORPHA:950
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Short nose, Upslanted palpebral fissure, Wide nasal bridge OMIM:618437
Pseudotrisomy 13 Syndrome
Microphthalmia, Upslanted palpebral fissure, Omphalocele OMIM:264480
Poikiloderma With Neutropenia
Short nose, Underdeveloped nasal alae, Sparse lateral eyebrow, Blepharitis, Sparse eyebrow, Joint... OMIM:604173
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Plagiocephaly, Short nose, Abnormally large globe, Highly arched eyebrow, Delayed ossification of... OMIM:239300
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Brachycephaly, Short palpebral fissure, Short nose, Camptodactyly, Trigonocephaly, Ptosis, Downsl... OMIM:309590
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Telecanthus, Anteverted nares, Choanal atresia, Trigonocephaly, Downslanted palpebral... OMIM:610536
Non-Syndromic Posterior Hypospadias